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Welcome to the ASHG 64th Annual Meeting
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TABLE OF CONTENTS ASHG’s Mission/Vision/2014 Board of Directors .................................................. 4 Welcome from the 2014 President .......................................................................... 5 2014 ASHG Program Committee Members ............................................................ 6 Welcome from the 2014 Program Chair .................................................................. 7 2014 ASHG Abstract Reviewers ............................................................................... 9 Annual Meeting Support ......................................................................................... 11 Schedules ........................................................................................................... 15–34 Scientific Sessions and Ancillary/Exhibitor Education Events............................... 16 Expo Ed: Exhibit Theater ........................................................................................ 33 Professional Development Theater/Trainee Lounge/Career Resources ............... 34 Maps San Diego Convention Center ................................................................................ 35 San Diego Marriott Hotel & Marina (Headquarters Hotel) ..................................... 37 Hotel Locator Map .................................................................................................. 39 General Information About the Meeting................................................................................................ 41 Abstracts/Abstract Search ................................................................................. 41 Invited Sessions .................................................................................................. 41 Featured Plenary Presentations (abstract-driven) .............................................. 41 Platform/Poster Sessions (abstract-driven) ....................................................... 41 Mobile App .......................................................................................................... 42 Social Media Policy ............................................................................................. 42 Internet/Wi-Fi/Cyber Café ................................................................................. 42 Photography/Camera/Recording Policy ............................................................ 42 Food Service ....................................................................................................... 42 Registration/Badge and Program Pickup ......................................................... 43 Registration Categories/Hours/Fees .................................................................. 43 Replacement/Lost/Forgotten Badge.................................................................. 43 Meeting Offices and Key Locations ................................................................... 44 ASHG Trainee Lounge.......................................................................................... 45 Charles J. Epstein Trainee Awards for Excellence in Human Genetics Research: Finalists and Semifinalists About the Awards/18 Finalists ............................................................................ 46 List of Semifinalists ............................................................................................. 48 FASEB MARC Travel Awardees .............................................................................. 49 INVITED, PLENARY, AWARD AND PLATFORM SESSIONS SCHEDULE Session #1 through Session #77 .................................................................51–102 Poster Sessions ............................................................................................. 103–200 Poster Mounting/Removal Hours/Author Presentation Times............................. 103 Poster Walks Schedule......................................................................................... 104 Poster Sessions by Topic ..................................................................................... 105 Exhibitors
TABLE OF CONTENTS
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Exhibit Hall Features and Hours ........................................................................... 201 Floor Plan of Exhibit and Poster Area .................................................................. 203 Alpha Listing of Exhibitors/Company Description .............................................. 205 Continuing Education (CEU/CME/PACE CEU Credits) ..................................... 233 Speaker and Author Disclosures/Conflict-of-Interest ...................................... 237 Speaker Instructions and Presentation Guidelines........................................... 240 Invited Speaker and First Author Index............................................................... 243 Advertisers ............................................................................................................. 257
AMERICAN SOCIETY OF HUMAN GENETICS DISCOVER • EDUCATE • ADVOCATE www.ashg.org The American Society of Human Genetics (ASHG), founded in 1948, is the primary professional membership organization for human genetics specialists worldwide. The Society’s nearly 8,000 members are scientists, health care professionals, and others with an interest in human genetics who work in a wide range of settings, including universities, hospitals, institutes, and medical and research laboratories. ASHG Mission ASHG’s mission is to advance human genetics in science, health, and society through excellence in research, education, and advocacy. Vision Members of ASHG enter the 21st century with a commitment to become fluent in the language of the genome, understand human variation, and promote the public health. As we transfer new knowledge to the next generation of genetics professionals and the public, we will translate new ideas into improved clinical practice.
2014 Board of Directors Cynthia C. Morton, President Neil J. Risch, President-Elect Brendan Lee, Secretary Geoffrey M. Duyk, Treasurer Mary-Claire King, Past President 2012 Jeffrey C. Murray, Past President 2013 David L. Nelson, Editor
Directors: Han G. Brunner Sally A. Camper Vivian G. Cheung Evan E. Eichler William A. Gahl Richard A. Gibbs Helen H. Hobbs Elaine A. Ostrander, Stephen W. Scherer
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WELCOME FROM THE PRESIDENT Welcome to our 2014 Annual Meeting in San Diego, a terrific city in which we have met on several previous occasions and where we have enjoyed our visits together immensely. The theme I have chosen for this meeting is “The Time of Our Lives.” I have had the good fortune over the past 35 years to have a career as a human and medical geneticist, and I can assure you that in every one of those years I have witnessed important discoveries. Never before, however, has it been so clear that the study of the human genome will impact human health and medicine in such a profound way. With that perspective, it is a moment of great privilege and responsibility, and the path we take now will be a legacy for humankind. It is surely “The Time of Our Lives” as human geneticists. Our annual meeting is a wonderful reunion of geneticists from across the lifespan and from around the globe--from those who are the founders of our discipline to the trainees who will become our future leaders. Here we embrace old friends and make new ones, we celebrate remarkable accomplishments of colleagues, and we witness progress not imagined only a few short years ago. We work hard and we play hard, and we have “The Time of Our Lives”. During this meeting we celebrate the 65th anniversary of The American Journal of Human Genetics, our Society’s highly regarded journal that publishes a record of research and review relating to heredity in humans and to the application of genetic principles in medicine and public policy, as well as in related areas of molecular and cell biology. A special “Best of the AJHG” anniversary issue, which awaits you at the meeting, includes a collection of articles published over the years illustrating changes the field has undergone and highlighting the rich tradition of the Journal. For many of us, paging through this issue will be a nostalgic experience. For younger members, who may be reading these papers for the first time, it will provide perspective on the numerous fundamental contributions of human geneticists over more than six decades. Be sure to stop by the AJHG booth to speak with the AJHG Editors about this record of our history and about the next paper you plan for submission to our Journal! Throughout this year we have begun to implement various initiatives from a strategic planning process undertaken by the Board of Directors. You will see some of that planning roll out here in San Diego. An important focus is on trainees. A new feature of the meeting is the “Poster Walk,” which will be an opportunity for trainees to spend time reviewing selected posters with an expert member in a selected area of interest. Trainees will be taking their places on ASHG Committees that will meet here this week, and we will welcome an elected trainee as a full member of the Board of Directors. Another important focus of our strategic plan will be an enhanced educational effort in genetics directed at healthcare professionals. Exciting plans are already underway, and further information will be available from ASHG staff at the Society booth (ASHG Central) in the Exhibit Hall and in reports during the open Business Meeting of the Society on Wednesday. It’s a wonderful honor for me to serve as your President. I look forward to visiting with many of you over the coming days. Enjoy being in San Diego, enjoy the fellowship of your friends and colleagues, enjoy learning about some amazing science, and enjoy yet another fabulous annual meeting of the American Society of Human Genetics. Enjoy “The Time of Our Lives!” With warmest wishes, Cynthia Casson Morton ASHG President Brigham and Women’s Hospital and Harvard Medical School
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PROGRAM COMMITTEE
AMERICAN SOCIETY oF HUMAN GENETICS 64TH Annual Meeting October 18–22, 2014 • San Diego, California ASHG gratefully acknowledges the expertise, hard work, and dedication of the 2014 Program Committee ************************************ 2014 Program Committee Andrew S. McCallion, Chair Joshua Akey
Ruth Loos
Anthony Antonellis
Daniel MacArthur
Dimitri Avramopoulos
Karen Mohlke
Joann Bodurtha
Doug Mortlock
Gregory M. Enns
Kelly E. Ormond
Clair A. Francomano
Tayfun Ozcelik
Christian Gilissen
Sharon E. Plon
Chris Gunter
Barbara R. Pober
Madhuri Hegde
Michael A. Province
Sekar Kathiresan
Michael R. Speicher
Suzanne M. Leal
Rosanna Weksberg
Guillaume Lettre
Michael E. Zwick
************************************
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WELCOME FROM THE PROGRAM CHAIR On behalf of the ASHG Program Committee and the Board of Directors, welcome to the Society’s 64th Annual Meeting in San Diego! This is truly an exciting time to be in human genetics. The 2014 Program Committee has developed an exceptional program. This year, we received 3566 abstracts, from which 406 were chosen for plenary/platform oral presentations and more than 3100 are being presented as scientific posters. In addition, there are 16 invited sessions chosen from submitted proposals. The Program Committee has worked to assemble an exciting and fulfilling scientific program that balances basic, translational, and clinical research with sessions that address timely issues. The schedule features separate tracks (trainee, clinical, social issues, and education) to help you select the sessions most relevant to your interests. The meeting begins on Saturday at 5:00 pm with the Presidential Address “The Time of Our Lives” by Cynthia Morton. The address will be streamed live on the ASHG website and will be followed by the first of three sets of featured plenary presentations. A distinguished speakers’ symposium highlighting challenges and opportunities presented by big data in the genomics era has been scheduled for Sunday morning. This symposium, entitled Separating Signal from Noise, features speakers from Google, IBM Thomas J. Watson Research Center, and the CDC. Each day will feature concurrent platform presentations, and poster presentations. Invited sessions are scheduled on Sunday and Wednesday mornings. This year’s welcome reception is being held on Sunday, in the exhibit hall, to encourage networking. The poster topic categories are natural convening sites if you’re looking for a colleague in your discipline. The Society’s Board of Directors and the Program Committee continue to share a strong commitment to the academic and career development of trainees. The Program offers several events designed to assist our trainee members in their transition toward professional independence. In response to survey requests from prior meeting attendees, the Program Committee is introducing a range of new initiatives this year, including a joint symposium with the European Society of Human Genetics addressing uncertainty in genomic sequencing, multiple invited speaker sessions proposed and moderated by trainees, a joint satellite symposium with the American Society for Bioethics and Humanities, poster walks, featured abstract-driven plenary sessions on Monday and Tuesday mornings, and the Genetics Portrait Project Interactive Art Exhibit, which uses art to explore current perceptions of genetics research and its implications for the future. I hope that you enjoy the meeting, and again, a warm welcome to San Diego. Andy McCallion Program Committee Chair Johns Hopkins University
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WELCOME FROM THE PROGRAM CHAIR
Feedback: To determine whether the programmatic changes we implemented were successful, and to gather suggestions for future meetings, we will be sending an online survey after the meeting to all attendees. Please take the time to complete the survey and provide us with valuable feedback that we can consider for future meetings. As this year demonstrates, we DO use your feedback to continually improve our meeting. Acknowledgments: Developing a program for the ASHG Annual Meeting is a complex process, requiring the coordinated efforts of many individuals over thousands of person-hours. This past year, I have had the privilege of working with a truly exceptional Program Committee – each member generously volunteering his or her expertise and time to develop an outstanding scientific program. I am also grateful to the Information and Education, Social Issues, and Awards committees for their valuable contributions to the meeting. Finally, my deepest appreciation goes to our ASHG administrative staff for their enthusiastic dedication and tireless work in making our Annual Meeting the success that it is. Policy Change: This year, after thorough deliberation, ASHG has changed its policy to allow members of the Program Committee (PC) to be first authors on abstracts and to present during sessions at the annual meeting. We have made this change to help ensure that PC members are not precluded from presenting their own research at the world’s largest genetics meeting during their three-year service on the committee. We are confident that the external-review process that applies to all abstracts and proposals for invited sessions addresses potential concerns about conflict-of-interest.
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ABSTRACT REVIEWERS ASHG gratefully acknowledges the expertise, hard work, and dedication of the 2014 Abstract Reviewers. *Indicates 2014 Program Committee Member Bioinformatics and Genomic Technology *Chris Gunter *Daniel MacArthur *Christian Gilissen Deanna M. Church Yaniv Erlich Aaron Quinlan
Complex Traits and Polygenic Disorders *Karen Mohlke *Sekar Kathiresan *Ruth Loos Soumya Raychaudhuri Michael A. Hauser Karen N. Conneely
Cancer Genetics *Sharon E. Plon *Rosanna Weksberg John D. McPherson Paul Scheet Stephen Meyn Sam Hanash
Cytogenetics *Michael R. Speicher Terry Hassold Anne Bassett
Cardiovascular Genetics *Guillaume Lettre Paul Livermore Auer Calum MacRae Clinical Genetics and Dysmorphology *Barbara R. Pober *Clair A. Francomano Daryl A. Scott David Chitayat Ozlem Goker-Alpan Mitzi L. Murray Clinical Genetic Testing *Madhuri Hegde Katie Rudd Marwan K. Tayeh
Development *Doug Mortlock Reid S. Alisch John A. Capra Epigenetics *Rosanna Weksberg John M. Greally Marisa Bartolomei Ethical, Legal, Social and Policy Issues in Genetics *Kelly E. Ormond Joann Bodurtha Jennifer B. McCormick Evolutionary and Population Genetics *Joshua Akey Jeffrey M. Kidd Joseph Pickrell Genetic Counseling *Kelly E. Ormond Kevin Sweet Susan E. Hahn
Genetics/Genomics Education *Joann Bodurtha Arti Pandya Siobhan M. Dolan Genome Structure, Variation and Function *Michael R. Speicher *Doug Mortlock Sebastien Jacquemont Santhosh Girirajan Reid S. Alisch John A. Capra Health Services Research *Joann Bodurtha Arti Pandya Kevin Sweet Metabolic Disorders *Gregory M. Enns William L. Nyhan Stephen Cederbaum Molecular Basis of Mendelian Disorders *Anthony Antonellis *Tayfun Ozcelik Stephanie Bielas Marina Kennerson Alessandra Renieri Mustafa Tekin Pharmacogenetics *Gregory M. Enns William L. Nyhan Cornelia M. van Duijn
10 Prenatal, Perinatal and Reproductive Genetics *Clair A. Francomano Lee P. Shulman Nancy C. Rose Psychiatric Genetics, Neurogenetics and Neurodegeneration *Dimitri Avramopoulos *Michael E. Zwick Jennifer Gladys Mullé Tao Wang David J. Cutler Joseph F. Cubells
Statistical Genetics and Genetic Epidemiology *Suzanne M. Leal *Michael A. Province Peter N. Robinson Cornelia M. van Duijn Ingrid Borecki John S. Witte Therapy for Genetic Disorders *Barbara R. Pober Joseph G. Hacia Gerald Raymond
Thank you to the following members for serving as additional reviewers: *Andy McCallion, 2014 Program Chair Joseph McInerney, ASHG’s Executive Vice President Michael Dougherty, ASHG’s Director of Education
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ANNUAL MEETING SUPPORT The American Society of Human Genetics gratefully acknowledges the following Annual Meeting supporters.
For the Ice Cream Social during Poster Sessions on Monday
For the Diagnostic Challenges session on Sunday
For the Trainee-Mentor Luncheon on Sunday
For the Trainee Peer Networking Breakfast on Sunday
For the Abstract Search/Itinerary Planner
For the #ASHG14 Tweetup on Saturday
Invited Proposals and Workshops Accepted Until December 5, 2014 Seeking invited sessions proposals in: ] Emerging Genomic and Bioinformatic Methods and Tools ] Functional or Mechanistic Studies of Genetic Disease ] Comparative Genomics (Population or Species) ] Advances in Mendelian or Complex Trait Analysis ] WES or WGS in Clinical or Research Settings ] Evolutionary Genetics and Genomics ] Engagement of Stakeholders in Clinical Genetics/Genomics ] Social Issues, Education, Policy ] and more! June 11, 2015
Abstract Submission Deadline TRAINEES At least one slot has been set aside for an invited session that is proposed, moderated and presented by trainees! When submitting a proposal, please mark the appropriate checkbox to indicate your status as a trainee.
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SCHEDULE OF SCIENTIFIC SESSIONS AND ANCILLARY/EXHIBITOR EDUCATION EVENTS
(*) Asterisk denotes meetings/events that the organizer specified are by invitation or preregistration only. Otherwise, attendance may be assumed to be open to all registrants on a first-come, first-served basis. Listings in bold face indicate the event is an ASHG-sponsored scientific session/event open only to scientific registrants. Indicates ASHG Committee Meetings.
Tracks
A track addresses the needs of an audience that represents a subset of ASHG attendees. Sessions are tagged as a specific track when at least half of the talks within the session fall under the track description. Indicates Trainee-focused events The Trainee Track highlights sessions, events, and workshops focused on skills development, career development, and networking that may be of particular interest to trainees (e.g., graduate student, postdoc, fellow, resident). Indicates Education-focused events The Education Track highlights sessions, events, and workshops falling into two categories. The first category encompasses research and best practices in genetics education at all levels. The second category includes content presented at a level accessible to those without specific expertise in the session/event/ workshop topic. Indicates Clinically focused events The Clinical Track highlights sessions, events, and workshops focused on clinical aspects of human genetics. Indicates Social Issues-focused events The Social Issues Track highlights sessions, events, and workshops focused on social, legal, and ethical issues in basic and clinical human genetics. Indicates Exhibitor Education or Exhibit Theater Events The Exhibitor Events Track highlights educational programming by companies exhibiting at ASHG 2014. Topics range from presentation of new research to case studies and best practices.
SCHEDULE
Ancillary and satellite meetings, exhibitor education events or other special workshops, reunion/ university receptions, or meetings of editorial boards, committees, etc., are not official ASHG functions.
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SCHEDULE
FRIDAY, October 17 (*) Asterisk denotes meetings that are by invitation or pre-registration only. Otherwise, attendance may be assumed to be open to all registrants. 7:00 AM 4:30 PM
8:15 AM 2:40 PM 8:30 AM 5:30 PM
*9:00 AM 1:00 PM *3:00 PM 8:00 PM *4:00 PM 5:45 PM *6:00 PM 9:00 PM *6:00 PM 9:00 PM *6:00 PM 9:00 PM
FSH Society Facioscapulohumeral Muscular Dystrophy [FSHD] 2014 International Research Consortium & Research Planning Meeting Day 1 ASHG High School Workshop (for local San Diego students and teachers)
Marriott Marquis Hotel San Diego Ballroom A, North Tower, Lobby Level Convention Center Room 25ABC, Upper Level Sanford Consortium for UCSD Institute for Genomic Medicine Regenerative Medicine, Symposium: Genomics of the Single Cell University of California, (separate registration required) San Diego Convention Center ESHG Executive Board Meeting Room 27B, Upper Level Marriott Marquis Hotel ASHG Board of Directors Meeting #1 Coronado, South Tower, Level 4 Marriott Marquis Hotel ABMGG Finance Committee Meeting Vista, South Tower, Level 1 ABMGG Accreditation Committee Meeting Marriott Marquis Hotel Oceanside, South Tower, Level 1 Marriott Marquis Hotel ABMGG Credentials Committee Meeting Leucadia, South Tower, Level 1 Marriott Marquis Hotel ABMGG MOC Committee Meeting Vista, South Tower, Level 1
SATURDAY, October 18 (*) Asterisk denotes meetings that are by invitation or pre-registration only. Otherwise, attendance may be assumed to be open to all registrants. *7:00 AM 4:30 PM
*7:30 AM 4:00 PM
FSH Society Facioscapulohumeral Muscular Dystrophy [FSHD] 2014 International Research Consortium & Research Planning Meeting Day 2 ACMG Board Meeting
*7:30 AM 4:30 PM
ABMGG Board of Directors Meeting
8:00 AM 4:00 PM
ASHG Undergraduate Faculty Genetics Education Workshop Separate advance registration required.
Marriott Marquis Hotel San Diego Ballroom A, North Tower, Lobby Level Marriott Marquis Hotel Point Loma, South Tower, Level 1 Marriott Marquis Hotel Leucadia, South Tower, Level 1 Convention Center Room 24AB, Upper Level
SCHEDULE
Exhibitor Registration Open
*8:30 AM 3:00 PM
ASHG Board of Directors Meeting #2
8:30 AM 3:45 PM *9:00 AM 12:00 PM 10:00 AM 3:00 PM
HGVS: Germline and Somatic Mosaicism (separate registration required) Philippine Genome Center Scientific Advisory Committee Meeting ASHG/ASBH Joint Symposium: From Clinical to Community Sequencing: Emerging Ethical, Legal and Social Issues in Genomics Space is limited. Admission on a first-come first-serve basis. Please show your meeting badge to gain admittance. Speaker Presentation/Upload Room Open Speakers are required to upload their presentations here. We recommend uploading at least 3 hours before your presentation time. Scientific Registration Open
10:00 AM 5:00 PM
12:00 PM 6:00 PM
Convention Center Lobby D, Ground Level Convention Center Room 26A, Upper Level Embassy Suites Downtown Convention Center Room 21, Upper Level Convention Center Room 25ABC, Upper Level
Convention Center Room 33C, Upper Level
Convention Center Lobby D, Ground Level Convention Center Room 26B, Upper Level Marriott Marquis Hotel Coronado, South Tower, Level 4
*12:00 PM 4:00 PM
ASHG Program Committee Meeting #1
12:00 PM 4:00 PM
Ataxia-Telangiectasia, DNA Repair and Genome Instability Open Workshop (for information contact:
[email protected] or
[email protected]) Hereditary Hearing Impairment Consortium Convention Center Room 31C, Upper Level Getting the Most from the Human Genome: Convention Center Understanding Updates and Making Use of Room 28A, Upper Improvements in the Reference Assembly Level ASHG Interactive Workshop: Convention Center Introduction to Accessing and Applying Room 32AB, Upper ENCODE Data: An Interactive Workshop Level Separate advance ticket purchase required. ASHG Interactive Workshop: Ensembl Convention Center Highlights (Intermediate/Advanced Room 31AB, Upper Workshop) Level Separate advance ticket purchase required. Baylor College of Medicine Exhibitor Convention Center Education Event Room 28B, Upper Level
12:00 PM 4:00 PM 1:00 PM 4:00 PM 2:30 PM 4:00 PM
2:30 PM 4:00 PM
2:30 PM 4:30 PM
SCHEDULE
8:00 AM 5:00 PM
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SCHEDULE
5:00 PM 5:30 PM
5:30 PM 6:50 PM *7:00 PM 8:00 PM
1. ASHG Presidential Address: The Time of Our Lives Cynthia Casson Morton, Brigham and Women’s Hospital/Harvard Medical School 2. Plenary Abstracts Featured Presentation I ACMG Committee Chairs Meeting
*7:00 PM 9:00 PM
American Journal of Medical Genetics Editorial Board Meeting
7:15 PM 8:45 PM
Navigating the Thorny Landscape on a Path from Newborn Screening to Genome Sequencing: A Play Brings to Life the Drama of DNA. RSVP in advance to Lynn Bush:
[email protected] #ASHG14 Tweetup Join your fellow #ASHG14 tweeters for drinks and conversation after the Presidential Address and Plenary Abstract Presentations. SickKids Genetics & Genome Biology Program Reception
7:30 PM 9:30 PM
7:30 PM 11:30 PM
Convention Center Hall B1, Ground Level
Convention Center Hall B1, Ground Level Marriott Marquis Hotel Point Loma, South Tower, Level 1 Marriott Marquis Hotel Catalina, South Tower, Level 4 Marriott Marquis Hotel Marina G, South Tower, Level 3
Southpaw Social Club Beer Garden Patio
Marriott Marquis Hotel Marina F, South Tower, Level 3
SUNDAY, October 19 (*) Asterisk denotes meetings that are by invitation or pre-registration only. Otherwise, attendance may be assumed to be open to all registrants. 7:00 AM 8:00 AM 7:00 AM 5:00 PM 7:00 AM 5:00 PM
*7:00 AM 8:00 AM
ASHG Trainee Peer Networking Breakfast Separate advance ticket purchase required. Scientific Registration Open
Speaker Presentation/Upload Room Open Speakers are required to upload their presentations here. We recommend uploading at least 3 hours before your presentation time. ASHG Communications Committee Meeting
*7:00 AM 8:00 AM
ACMG Program Committee Meeting
8:00 AM 9:30 AM
3. Distinguished Speakers Symposium: Separating Signal from Noise
Convention Center Room 25ABC, Upper Level Convention Center Lobby D, Ground Level Convention Center Room 33C, Upper Level
Convention Center Room 27A, Upper Level Marriott Marquis Hotel Point Loma, South Tower, Level 1 Convention Center Hall B1, Ground Level
SCHEDULE
Exhibitor Registration Open
10:00 AM 12:00 PM
Concurrent Invited Session I (4-11): 4. Beyond Canonical CNVs: Interpreting Other Forms of Genomic Structural Variation 5. Beyond Mendel: Complexities of Simple Mendelian Disorders 6. Crowdsourced Genetics 7. Curiouser and Curiouser! Navigating Career Transitions and Challenges in Genetics 8. Targeted Drug Therapies for Progressive Genetic Disorders
10:00 AM 5:00 PM
11:00 AM 7:00 PM
9. The X-Factor of Complex Disease: From Evolution to Association Studies of the X Chromosome 10. Using Zebrafish to Model Human Genetic Disease Variation 11. Whole Genome/Exome Sequencing: Patient Expectations, Literacy, and Preferences for Genomic Information How Do You Think Genetic Research Will Affect the Future? The Genetic Portrait Project — An Interactive Art Initiative Exhibits Open
11:00 AM 7:00 PM
Posters Open for Viewing
11:00 AM 7:00 PM
ASHG Trainee Lounge
11:00 AM 7:00 PM
ASHG/FASEB Career Resources Open Coaches will be available to give attendees free career guidance, provide interview tips, and critique resumes or CVs. Stop by to make your appointment. Lunch Break, Open Viewing for Posters and Visiting the Exhibits Complimentary light lunch refreshments served at ASHG Central and in the Trainee Lounge starting at 12:15. Cash and carry food concessions selling a variety of hot and cold items will also be available.
12:00 PM 1:30 PM
Convention Center Lobby D, Ground Level Convention Center
Room 6CF, Upper Level Room 20A, Upper Level Room 6AB, Upper Level Room 20BC, Upper Level Room 6DE, Upper Level Room 30, Upper Level
Room 29, Upper Level Room 20D, Upper Level Convention Center Lobby 20, Upper Level Convention Center Exhibit Hall E, Ground Level Convention Center Exhibit Hall E, Ground Level Convention Center Exhibit Hall E, Ground Level Convention Center Exhibit Hall E, Ground Level
Convention Center Exhibit Hall E, Ground Level
SCHEDULE
8:00 AM 6:00 PM
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20
SCHEDULE
12:00 PM 1:30 PM 12:00 PM 1:30 PM
12:00 PM 1:30 PM
12:00 PM 1:30 PM
*12:00 PM 1:30 PM *12:00 PM 1:30 PM *12:00 PM 1:30 PM *12:00 PM 1:30 PM 12:00 PM 1:30 PM *12:00 PM 1:30 PM 12:00 PM 1:15 PM
12:00 PM 1:30 PM
12:00 PM 1:30 PM
ASHG Trainee-Mentor Luncheon Convention Center Separate advance ticket purchase required. Room 25ABC, Upper Level ASHG Trainee Professional Development Convention Center Exhibit Hall E, Ground Program 12:00 pm: How to Choose Your Ideal Career Level 12:45 pm: Nailing the Job Talk & Interview Prep Space is limited. Admittance on a firstcome, first-served basis. Convention Center ASHG Event: Diagnostic Challenges: Review and Discussion of Unique Cases Room 2, Upper Level Separate advance ticket purchase required. ASHG acknowledges Children’s Hospital of Los Angeles for providing a grant in support of this session. ASHG Interactive Workshop: Epigenomic Convention Center Annotation of Genetic Variants Using Room 32AB, Upper The Washington University Epigenome Level Browser Separate advance ticket purchase required. IFHGS Board Meeting Convention Center Room 7B, Upper Level ACMG PPG Committee Meeting Convention Center Room 21, Upper Level Human Variome Project International Convention Center Scientific Advisory Committee Meeting Room 27B, Upper Level Human Molecular Genetics Editorial Board Convention Center Meeting Room 26A, Upper Level Clinical Genetics Editorial Board Meeting Convention Center Room 26B, Upper Level MGM Editorial Board Meeting - Elsevier Convention Center Room 27A, Upper Level Convention Center Illumina Exhibitor Education Event #1: From Sample to Answer – Comprehensive Room 4, Upper Level Next-Generation Sequencing Solutions to turn Genomic Information into Disease Insight Convention Center Affymetrix Exhibitor Educational Event: Room 3, Upper Level Don't Jeopardize your Cancer Research by Relying Solely on Somatic Mutation Analysis: Evidence of Clinical Utility of Copy Number in Solid Tumor FFPE Tissue Convention Center Ambry Genetics Exhibitor Education Room 11B, Upper Level Event: Diagnostic Exome Sequencing In Neonatal Patients: A Rapid Option for Diagnosis and Management in a Fragile Patient Population
SCHEDULE
12:00 PM 1:30 PM
12:00 PM 1:30 PM 12:00 PM 1:30 PM 12:00 PM 1:30 PM 12:00 PM 1:30 PM 12:00 PM 1:30 PM
12:00 PM 1:30 PM 1:30 PM 3:30 PM
Concurrent Platform Session A (12-21): 12. Patterns and Determinants of Genetic Variation: Recombination, Mutation, and Selection 13. Genomic Studies of Autism 14. Statistical Methods for PedigreeBased Studies 15. Prostate Cancer: Expression Informing Risk 16. Variant Calling: What Makes the Difference? 17. New Genes, Incidental Findings and Unexpected Observations Revealed by Exome Sequencing 18. Type 2 Diabetes Genetics 19. Genomic Methods in Clinical Practice 20. Genetics and Mechanisms in Neurological Disorders
Convention Center Room 7A, Upper Level Convention Center Room 1B, Upper Level Convention Center Room 5B, Upper Level Convention Center Room 28A, Upper Level Convention Center Room 1A, Upper Level Convention Center Room 31C, Upper Level Convention Center Room 9, Upper Level
Marriott Marquis Hotel Mission Hill, South Tower, Level 3 Convention Center Hall B1, Ground Level
Room 6AB, Upper Level Room 6CF, Upper Level Room 6DE, Upper Level Room 20A, Upper Level Room 20BC, Upper Level Room 20D, Upper Level Room 28, Upper Level Room 29, Upper Level
SCHEDULE
12:00 PM 1:30 PM
Ayasdi Exhibitor Education Event: Application of Topological Data Analysis (TDA) to Precision Medicine Bio-Rad Laboratories Exhibitor Education Event: Exploring Depths of the Human Genome With Droplet Digital PCR Building your Genomics Business with SBIR/STTR Support from NHGRI and the NIH LGC Exhibitor Education Event: Functional Validation of Genetic Variation in Population Genomics Macrogen Exhibitor Education Event: Next Generation Sequencing: A Key to New Discoveries Roche Diagnostics Exhibitor Education Event: A Glimpse into the Future of NextGeneration Sequencing Personalis Exhibitor Education Event: ACE Exome for Research and Clinical Diagnostics: The Most Comprehensive and Advanced Exome Coverage Available VAAST Workshop: Identifying Disease Causing Genes in Genomes
21
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SCHEDULE
4:00 PM 6:00 PM
21. Developmental Genetics: Immunodeficiencies and Autoimmune Disorders Poster Session I (Sunday Poster Authors Present)
6:00 PM 7:00 PM
ASHG Welcome Reception
6:30 PM 7:30 PM
2014 Gruber Genetics Prize Ceremony and Lecture
6:00 PM 7:30 PM *6:00 PM 9:00 PM
American Board of Bioanalysis (ABB) Board Certification in Molecular Diagnostics Reception ACMG Lab QA Biochemical Genetics Subcommittee Meeting
*6:00 PM 9:00 PM
ACMG Lab QA Cytogenetics Subcommittee Meeting
*6:00 PM 9:00 PM
ACMG Lab QA Molecular Genetics Committee Meeting
*6:30 PM 7:30 PM
Beckman Coulter Genomics Customer Reception
*6:30 PM 8:00 PM
Human Mutation Editorial Board Meeting
7:15 PM 9:00 PM
Association of Chinese Geneticists in America (ACGA) Annual Meeting
7:30 PM 9:30 PM 7:30 PM 9:30 PM
University of Pittsburgh Reunion
7:45 PM 9:30 PM
1000 Genomes Data Tutorial
Duke University Human Genetics Alumni Reception
Room 30, Upper Level
Convention Center Exhibit Hall E, Ground Level Convention Center Exhibit Hall E, Ground Level Convention Center Room 20A, Upper Level Convention Center Room 11B, Upper Level Marriott Marquis Hotel Point Loma, South Tower, Level 1 Marriott Marquis Hotel Oceanside, South Tower, Level 1 Marriott Marquis Hotel Vista, South Tower, Level 1 Marriott Marquis Hotel Newport Beach, South Tower, Level 4 Marriott Marquis Hotel Catalina, South Tower, Level 4 Marriott Marquis Hotel Marina F, South Tower, Level 3 Café Sevilla 353 Fifth Avenue Marriott Marquis Hotel La Costa, South Tower, Level 4 Convention Center Room 24ABC, Upper Level
MONDAY, October 20 (*) Asterisk denotes meetings that are by invitation or pre-registration only. Otherwise, attendance may be assumed to be open to all registrants. 6:30 AM 8:00 AM
Genzyme CME Program: Small Molecule Therapy for Gaucher Disease
Convention Center Room 25ABC, Upper Level
SCHEDULE
7:00 AM 5:00 PM
7:30 AM 5:00 PM 8:00 AM 4:00 PM 8:00 AM 8:25 AM 8:30 AM 8:45 AM 8:45 AM 9:00 AM 9:15 AM 9:30 AM 9:30 AM 10:00 AM 10:00 AM 4:00 PM 10:00 AM 4:00 PM 10:00 AM 4:00 PM 10:00 AM 4:00 PM
10:00 AM 5:00 PM
10:30 AM 12:30 PM
Scientific Registration Open Exhibitor Registration Open
Convention Center Room 33C, Upper Level
Marriott Marquis Hotel Oceanside, South Tower, Level 1 Convention Center Lobby D, Ground Level Convention Center Lobby D, Ground Level Convention Center Hall B1, Ground Level Convention Center Hall B1, Ground Level
22. Plenary Abstracts Featured Presentation II 23. ASHG Award for Excellence in Human Genetics Education Presentation 24. ASHG Victor A. McKusick Leadership Convention Center Award Presentation Hall B1, Ground Level 25. ASHG Curt Stern Award Presentation Convention Center Hall B1, Ground Level 26. ASHG William Allan Award Convention Center Presentation Hall B1, Ground Level Exhibits Open Convention Center Exhibit Hall E, Ground Level Posters Open for Viewing Convention Center Exhibit Hall E, Ground Level ASHG Trainee Lounge Convention Center Exhibit Hall E, Ground Level ASHG/FASEB Career Resources Open Convention Center Coaches will be available to give attendees Exhibit Hall E, Ground free career guidance, provide interview Level tips, and critique resumes or CVs. Stop by to make your appointment. How Do You Think Genetic Research Convention Center Will Affect the Future? The Genetic Lobby 20, Upper Portrait Project — An Interactive Art Level Initiative Concurrent Platform Session B (27-36): Convention Center 27. Cloudy with a Chance of Big Data 28. Architecture and Impact of Human Knockout Alleles 29. Population Structure, Admixture, and Human History 30. Neurogenetics: From Gene to Mechanism (I)
Hall B1, Ground Level Room 6AB, Upper Level Room 6CF, Upper Level Room 6DE, Upper Level
SCHEDULE
*7:00 AM 8:00 AM
Speaker Presentation/Upload Room Open Speakers are required to upload their presentations here. We recommend uploading at least 3 hours before your presentation time. ACMG Education Committee Meeting
23
24
SCHEDULE
12:30 PM 2:00 PM
12:30 PM 2:00 PM
12:30 PM 2:00 PM
31. Cardiovascular Genetics I: Single Gene Stories 32. Molecular Insights into Mendelian Disorders
Room 20A, Upper Level Room 20BC, Upper Level
33. Genomic Alterations of Tumors
Room 20D, Upper Level Room 28, Upper Level
34. Metabolic Disorders: New Diagnostics and Pathogenic Insights 35. Looking between the Streetlamps: Variant Phasing and Imputation 36. Chromatin, Gene Regulation and Expression Lunch Break, Open Viewing for Posters and for Visiting the Exhibits Complimentary light lunch refreshments served at ASHG Central and in the Trainee Lounge starting at 12:30. Cash and carry food concessions selling a variety of hot and cold items will also be available. ASHG Trainee Professional Development Program 12:30 pm: Nailing the Job Talk & Interview Prep 1:15 pm: Negotiating Strategies for Scientists Space is limited. Admission on a firstcome, first-served basis. ASHG Interactive Workshop: Advanced Features of the UCSC Genome Browser Separate advance ticket purchase required.
Room 29, Upper Level Room 30, Upper Level Convention Center Exhibit Hall E, Ground Level
Convention Center Exhibit Hall E, Ground Level
Convention Center Room 32AB, Upper Level
12:30 PM 2:00 PM
Behind the Scenes: Mock NIH Study Convention Center Section Workshop Room 25ABC, Upper Separate advance ticket purchase required. Level
12:30 PM 2:00 PM
Convention Center ASHG Interactive Workshop: iSeqTools Room 24ABC, Upper to De-mistify the Cloud and Genomics Level Analysis for Researchers Seeking Ways to Analyze High-Throughput DNA Sequencing Data Separate advance ticket purchase required. Convention Center AJHG Editorial Board Meeting Room 26B, Upper Level ASHG Information and Education Convention Center Committee Meeting Room 27A, Upper Level ASHG/NHGRI Public Policy Fellows Convention Center Luncheon Room 23, Upper Level ACMG Economics of Genetic Services Marriott Marquis Hotel Committee Meeting Oceanside, South Tower, Level 1
*12:30 PM 2:00 PM *12:30 PM 2:00 PM *12:30 PM 2:00 PM *12:30 PM 2:00 PM
SCHEDULE
ACMG Foundation Development Committee Meeting Genetic Epidemiology Editorial Board Meeting
*12:30 PM 2:00 PM
Human Variome Project Genetics Journal Editors Interest Group Meeting
12:30 PM 1:30 PM
NanoString Technology Exhibitor Education Event: A Proven Technology for the Rapid Translation of Genomic Discovery to a Clinically Validated Assay: Multiplexed, Amplification-Free, SingleMolecule Digital Counting of DNAs, RNAs and Proteins Affymetrix Exhibitor Education Event: New Insights in Genotyping
12:30 PM 2:00 PM 12:30 PM 2:00 PM 12:30 PM 2:00 PM 12:30 PM 2:00 PM 12:30 PM 2:00 PM
12:30 PM 2:00 PM
12:30 PM 2:00 PM 12:30 PM 2:00 PM 12:30 PM 2:00 PM 12:30 PM 2:00 PM
Agilent Technologies Exhibitor Education Event: Advances in Next-Gen Sequencing Target Enrichment BGI Exhibitor Education Event: Human Disease Research and Drug Development in the Era of Next-Gen Sequencing Bina Technologies Exhibitor Education Event: Fast, Accurate, Easy to Use Data Analysis Solutions BioNano Genomics Exhibitor Education Event: Exploring the Dark Matter of the Genome: Uncovering the Full Impact of Structural Variation in Cancer and the Human Genome Cartagenia, Inc. Exhibitor Education Event: Combining NGS and CNV Assays: Diagnostic Interpretation and Reporting for Prenatal, Postnatal and Oncology Applications Clinical Genome (ClinGen) Resource Program Luncheon DNANexus Exhibitor Education Event: Addressing the Challenges in Genomic Analysis and Data Management DNASTAR Exhibitor Education Event: Gene Panel Workflows in Lasergene Genomics Suite Illumina Exhibitor Education Event #2: Developing IVD Assays using the First FDA-Cleared Next-Generation Sequencing System, the MiSeqDx™
Marriott Marquis Hotel, Encinitas Room Convention Center Room 26A, Upper Level Convention Center Room 27B, Upper Level Convention Center Room 5A, Upper Level
Convention Center Room 3, Upper Level Convention Center Room 5B, Upper Level Convention Center Room 9, Upper Level Convention Center Room 21, Upper Level Convention Center Room 28A, Upper Level
Convention Center Room 7A, Upper Level
Convention Center Room 11B, Upper Level Convention Center Room 2, Upper Level Convention Center Room 11A, Upper Level Convention Center Room 4, Upper Level
SCHEDULE
*12:30 PM 2:00 PM *12:30 PM 1:45 PM
25
26
SCHEDULE
12:30 PM 2:00 PM
12:30 PM 2:00 PM
Life Technologies-Thermo Fisher Scientific Exhibitor Education Event: Digital & qPCR Applications to Accelerate Understanding in Human Genetics & Disease New England Biolabs Exhibitor Event: NEBNext® NGS sample prep: New Developments and Applications Nextcode Health Exhibitor Education Event: One Proven Platform Enables the Use of NGS Data Both for Clinical Diagnostic Interpretation and Massive Cohort-based Discovery Omicia Exhibitor Education Event: Disease Gene Ranking by Phenotype with Phevor
12:45 PM 1:45 PM
Poster Walk I Advance Registration Required
2:00 PM 4:00 PM
Poster Session II (Monday Poster Authors Present)
4:30 PM 6:30 PM
Concurrent Platform Session C (37-46):
12:30 PM 2:00 PM 12:30 PM 2:00 PM
37. From Bytes To Phenotypes 38. Rare Mutations, Well Done 39. Cardiovascular Genetics II: Genetic Discovery and Characterization 40. Genetics of Complex Neuropsychiatric Disorders 41. Statistical Methods for Population Based Studies 42. Genome Variation and its Impact on Autism and Brain Development 43. ELSI Issues in Genetics
6:30 PM 8:00 PM
44. Prenatal, Perinatal, and Reproductive Genetics 45. Advances in Defining the Molecular Mechanisms of Mendelian Disorders 46. Epigenomics of Normal Populations and Disease States ASHG Trainee Networking Session Network with professionals in a wide range of genetics-related careers. Separate advance ticket purchase required.
Convention Center Room 8, Upper Level
Convention Center Room 1A, Upper Level Convention Center Room 1B, Upper Level
Convention Center Room 31C, Upper Level Convention Center Exhibit Hall E, Ground Level Convention Center Exhibit Hall E, Ground Level Convention Center Hall B1, Ground Level Room 6AB, Upper Level Room 6CF, Upper Level Room 6DE, Upper Level Room 20A, Upper Level Room 20BC, Upper Level Room 20D, Upper Level Room 28, Upper Level Room 29, Upper Level Room 30, Upper Level Convention Center Lobby 20, Upper Level
SCHEDULE
27
ICHG 2016 Scientific Program Committee Meeting
*6:30 PM 7:30 PM
ACMG Social, Ethical and Legal Issues (SELI) Committee Meeting
6:30 PM 9:30 PM
Global Alliance for Genomics and Health Information Session CCMG & CIHR Institute of Genetics Mixer Marriott Marquis Hotel with SickKids Centre for Genetic Medicine Marina E, South Tower, Level 3 Marriott Marquis Hotel Cleveland Clinic Genomic Medicine Catalina, South Tower, Institute Reception Level 4 Baylor College of Medicine Department of Marriott Marquis Hotel Molecular and Human Genetics Reception Marina D, South Tower, Level 3 The Ohio State University Comprehensive Marriott Marquis Hotel Santa Rosa, South Cancer Center (OSUCCC) James Scarlet Tower, Level 1 and Gray Reception
6:30 PM 8:00 PM 6:30 PM 8:00 PM 6:30 PM 8:30 PM 6:30 PM 8:30 PM 6:30 PM 9:00 PM
Regeneron Pharmaceuticals Reception
6:45 PM 8:00 PM
PALB2 Interest Group Meeting (for information contact: Marc Tischkowitz
[email protected]) ACMG Lab QA Full Committee Meeting
*7:00 PM 10:00 PM *7:00 PM 9:00 PM
Mount Sinai Alumni Reception
7:00 PM 9:30 PM
Johns Hopkins Institute of Genetic Medicine Reception
*7:00 PM 10:00 PM
RUCDR Infinite Biologics and BioProcessing Solutions Networking Reception University of Maryland School of Medicine/Program in Personalized & Genomic Medicine/Institute for Genome Sciences Reception 2014 Annual University of Chicago Department of Human Genetics Dessert Reception University of Michigan Department of Human Genetics Alumni Gathering
7:30 PM 9:30 PM
7:30 PM 10:30 PM 8:00 PM 10:00 PM
Marriott Marquis Hotel Cardiff/Carlsbad, Level 3 Marriott Marquis Hotel Oceanside, South Tower, Level 1 Convention Center Room 8, Upper Level
Convention Center Room 11B, Upper Level Convention Center Room 26B, Upper Level Marriott Marquis Hotel Point Loma, South Tower, Level 1 Marriott Marquis Hotel La Costa, South Tower, Level 4 Marriott Marquis Hotel Coronado, South Tower, Level 4 Marriott Marquis Hotel Solana, South Tower, Level 1 Marriott Marquis Hotel Balboa, South Tower, Level 3 Marriott Marquis Hotel Mission Hill, South Tower, Level 3 Marriott Marquis Hotel Leucadia, South Tower, Level 1
SCHEDULE
*6:30 PM 10:30 PM
28
SCHEDULE
8:00 PM 11:30 PM
UCSF Reception
8:00 PM 10:00 PM
Department of Genetics and Genome Sciences at Case Western Reserve University Reception CHOP/PENN Reunion
9:00 PM 11:00 PM
Marriott Marquis Hotel DelMar, South Tower, Level 3 Marriott Marquis Hotel Rancho Santa Fe, North Tower, Level 1 Marriott Marquis Hotel Newport Beach, South Tower, Level 3
TUESDAY, October 21 (*) Asterisk denotes meetings that are by invitation or pre-registration only. Otherwise, attendance may be assumed to be open to all registrants. *6:00 AM 8:00 AM
ACMG Maintenance of Certification Committee Meeting
*7:00 AM 8:00 AM *7:00 AM 8:00 AM
ACMG GGRC Planning Committee
7:00 AM 5:00 PM
7:30 AM 5:00 PM
ASHG Training and Development Committee Meeting Speaker Presentation/Upload Room Open Speakers are required to upload their presentations here. We recommend uploading at least 3 hours before your presentation time. Scientific Registration Open
8:00 AM 4:15 PM
Exhibitor Registration Open
8:00 AM 8:25 AM
47. Plenary Abstracts Featured Presentation III 48. ASHG/ESHG Building Bridges Session: Towards Finding Global Agreement on Topical Discussions in Genetics: Evolving Uncertainties in Genomic Medicine Exhibits Open
8:30 AM 10:00 AM
10:00 AM 4:15 PM 10:00 AM 4:00 PM
Posters Open for Viewing
10:00 AM 4:00 PM
ASHG Trainee Lounge
Marriott Marquis Hotel Leucadia, South Tower, Level 1 Convention Center Room 7B, Upper Level Convention Center Room 27A, Upper Level Convention Center Room 33C, Upper Level
Convention Center Lobby D, Ground Level Convention Center Lobby D, Ground Level Convention Center Hall B1, Ground Level Convention Center Hall B1, Ground Level
Convention Center Exhibit Hall E, Ground Level Convention Center Exhibit Hall E, Ground Level Convention Center Exhibit Hall E, Ground Level
SCHEDULE
10:00 AM 4:00 PM
10:30 AM 12:30 PM
12:30 PM 2:00 PM
*12:30 PM 2:00 PM *12:30 PM 2:00 PM
Convention Center Exhibit Hall E, Ground Level
Convention Center Lobby 20, Upper Level Convention Center
49. Detailing the Parts List Using Genomic Studies 50. Statistical Methods for Multigene, Gene Interaction and Pathway Analyses 51. Neurogenetics: From Gene to Mechanism (II) 52. Contribution of Common and Rare Variation to Obesity-Related Traits 53. The Dynamic Genome: Structural and Somatic Variation 54. Expanding Clinical Phenotypes
Hall B1, Ground Level
55. Cancer Susceptibility Genes: Identification and Implementation 56. Balanced and Unbalanced Chromosomal Rearrangements 57. Diagnostic Yield of New Genomic Technologies 58. Genetic/Genomic Education and Services Delivery
Room 20D, Upper Level Room 28, Upper Level
Lunch Break, Open Viewing for Posters and Exhibits Complimentary light lunch refreshments served at ASHG Central and in the Trainee Lounge starting at 12:30. Cash and carry food concessions selling a variety of hot and cold items will also be available. ASHG Advocates Luncheon: Genetic Testing in Children and Adolescents
Convention Center Exhibit Hall E, Ground Level
ASHG Program Committee Meeting #2
Room 6AB, Upper Level Room 6CF, Upper Level Room 6DE, Upper Level Room 20A, Upper Level Room 20BC, Upper Level
Room 29, Upper Level Room 30, Upper Level
Convention Center Room 7B, Upper Level Convention Center Room 26B, Upper Level
SCHEDULE
10:00 AM 5:00 PM
ASHG/FASEB Career Resources Open Coaches will be available to give attendees free career guidance, provide interview tips, and critique resumes or CVs. Stop by to make your appointment. How Do You Think Genetic Research Will Affect the Future? The Genetic Portrait Project — An Interactive Art Initiative Concurrent Platform Session D (49-58):
29
30
SCHEDULE
12:30 PM 2:00 PM
12:30 PM 2:00 PM
12:30 PM 2:00 PM
12:30 PM 2:00 PM
ASHG Trainee Professional Development Program 12:30 pm: Negotiating Strategies for Scientists 1:15 pm: How to Choose Your Ideal Career Space is limited. Admission on a firstcome, first-served basis. Behind the Scenes: ASHG Publications Workshop Separate advance ticket purchase required. ASHG Interactive Workshop: Best Practices for Variant Discovery with the GATK Separate advance ticket purchase required. ASHG Interactive Workshop: Clinical Genomics at NCBI Separate advance ticket purchase required.
*12:30 PM 2:00 PM
ACMG Secondary Finding Maintenance Working Group
12:30 PM 2:00 PM
Association of Professors of Human and Medical Genetics (APHMG) and SIGs Business Meeting and Lunch MGM Reports Editorial Board Meeting Elsevier
*12:30 PM 2:00 PM 12:30 PM 1:45 PM 12:30 PM 2:00 PM *12:30 PM 2:00 PM 12:30 PM 2:00 PM
12:30 PM 2:00 PM 12:45 PM 1:45 PM
QIAGEN Exhibitor Education Event: Your Best Data: Teaming QIAGEN Chemistry & Informatics to Drive Samples to Insight Complete Genomics (A BGI Company) Exhibitor Education Event: Clinical Applications of Whole Genome Sequencing Human Variome Project Sequence Variant Description Workshop Life Technologies-Thermo Fisher Scientific Exhibitor Education Event: NGS Breakthroughs in Genetics Research with Ion Torrent Sequencing: From Research to the Clinic Pacific Biosciences Exhibitor Education Event: Long Read Sequencing of Structural Variants and Transcript Isoforms Poster Walk II Advance Registration Required
Convention Center Exhibit Hall E, Ground Level
Convention Center Room 25ABC, Upper Level Convention Center Room 24ABC, Upper Level Convention Center Room 32AB, Upper Level Convention Center Room 27A, Upper Level Convention Center Room 11B, Upper Level Convention Center Room 27B, Upper Level Convention Center Room 11A, Upper Level Convention Center Room 9, Upper Level Convention Center Room 28A, Upper Level Convention Center Room 8, Upper Level
Convention Center Room 2, Upper Level Convention Center Exhibit Hall E, Ground Level
SCHEDULE
1:00 PM 2:00 PM
4:30 PM 6:30 PM
Concurrent Platform Session E (59-68): 59. We Have the Technology: NextGeneration Genomic Methods 60. Hereditary Breast-Ovarian Cancer 61. Genomic Studies of Schizophrenia and Bipolar Disorder 62. From Association to Function in Complex Traits 63. Therapy for Genetic Disorders
*6:30 PM 8:00 PM
64. Exome Sequencing as Standard of Care in Clinical Genetics 65. Beyond the Sequence: Genomic Regulation and Disease 66. A Clear Vision for Genetic Eye Diseases 67. Autoimmune Genes: Discovery & Function 68. Pharmacogenetics: From Association to Action ASHG Awards Committee Meeting
Convention Center Room 5B, Upper Level
Convention Center Exhibit Hall E, Ground Level Convention Center Hall B1, Ground Level Room 6AB, Upper Level Room 6CF, Upper Level Room 6DE, Upper Level Room 20A, Upper Level Room 20BC, Upper Level Room 20D, Upper Level Room 28, Upper Level Room 29, Upper Level Room 30, Upper Level Convention Center Room 27A, Upper Level
WEDNESDAY, October 22 (*) Asterisk denotes meetings that are by invitation or pre-registration only. Otherwise, attendance may be assumed to be open to all registrants. 7:00 AM 10:00 AM
7:30 AM 10:00 AM 9:00 AM 11:00 AM
Speaker Presentation/Upload Room Open Speakers are required to upload their presentations here. We recommend uploading at least 3 hours before your presentation time. Scientific Registration Open
Concurrent Invited Session II (69-76): 69. Circulating Cell-Free Nucleic Acids as Clinical Biomarkers
Convention Center Room 33C, Upper Level
Convention Center Lobby D, Ground Level Convention Center
SCHEDULE
2:00 PM 4:00 PM
RainDance Technology Exhibitor Education Event: Detecting Circulating Nucleic Acids by Fluid Biopsy™ and Profiling Somatic Tumors with Next-Gen DNA Poster Session III (Tuesday Poster Authors Present)
31
32
SCHEDULE
11:15 AM 12:30 PM
*12:30 PM 5:00 PM
70. Genomic Medicine Case Conference: Illustrative Clinical Examples 71. Genomic Variation: Interpreting the Uninterpreted 72. Genetics of Sleep and Circadian Disorders 73. Heritability and Risk Prediction for Complex Traits: Regulatory Variants and Polygenic Models 74. Stakeholder Engagement in Genomics Policy Development: What Is It? Why Do It? How? 75. Variation, Mutation, and Selection through the Lens of Regulatory Genomics 76. Viruses, Genomic Instability, and the Pathogenesis of Human Cancers 77. ASHG Membership/Business Meeting and Announcement of the C.W. Cotterman Award Winners and the Charles J. Epstein Trainee Awards for Excellence in Human Genetics Research Winners ACMG ClinGen Worshop
Convention Center Room 20BC, Upper Level
Convention Center Room 21, Upper Level
EXHIBIT THEATER
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Expo Ed: Exhibit Theater Exhibit Hall, Booth #1605
Sunday 12:15 pm1:00 pm 3:45 pm4:30 pm 4:45 pm5:30 pm 5:45 pm6:30 pm
Quantifying the Public Health Burden of Foodborne Extraintestinal Pathogenic Escherichia coli. Beckman Coulter Genomics New International Guidelines for the Management and Treatment of Morquio A Syndrome. BioMarin Pharmacuticals Solutions to Help Maximize Throughput for High-Capacity Next Generation Sequencing. Beckman Coulter Genomics Best Practices in Manual Pipetting. Artel
Monday 12:45 pm1:30 pm 1:45 pm2:30 pm 2:45 pm3:30 pm
Superior Sequencing Coverage and Uniformity in Affordable Gene Panels That You Can Customize. Integrated DNA Technologies Why Accuracy Matters: Improving Discovery and Diagnostics for Whole Genomes and Exomes. Personalis Arrays and NGS: High Resolution Analysis of the Medical Exome. Oxford Gene Technology
Tuesday 12:45 pm1:30 pm 1:45 pm2:30 pm 2:45 pm3:30 pm
Revolutionizing Carrier Screening: Leveraging NGS & Powerful Data Analytics to Build a Single Test for Hundreds of Diseases, Without Population Exclusivity. Gene by Gene An Integrated Molecular Medicine Platform for Interpreting and Reporting on Patient Genomic Profiles. Thomson Reuters The Regeneron Geisinger Genetics Collaboration: Large-Scale Population-Based Gene Discovery. Regeneron Pharmaceuticals
EXHIBIT THEATER
Visit the Exhibit Theater and hear presentations of product findings, case studies, and more from exhibiting companies in a quieter, smaller setting conveniently located on the Exhibit Hall floor. Presentations will be held in 45-minute increments.
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PROFESSIONAL DEVELOPMENT PROGRAM, TRAINEE LOUNGE AND CAREER RESOURCES BOOTH
PROFESSIONAL DEVELOPMENT PROGRAM Exhibit Hall, Booth 1535 Sunday 12:00 pm: How to Choose Your Ideal Career, Bill Lindstaedt 12:45 pm: Nailing the Job Talk & Interview Prep, Andrew Green Monday 12:30 pm: Nailing the Job Talk & Interview Prep, Andrew Green 1:15 pm: Negotiating Strategies for Scientists, Debra Behrens Tuesday 12:30 pm: Negotiating Strategies for Scientists, Debra Behrens 1:15 pm: How to Choose Your Ideal Career, Bill Lindstaedt
****************************************** TRAINEE LOUNGE AND CAREER RESOURCES BOOTH Exhibit Hall Sunday: 11:00 am-7:00 pm Monday: 10:00 am-4:00 pm Tuesday: 10:00 am-4:00 pm The Trainee Lounge is trainee-dedicated area specifically designed for our early career attendees and provides an area to give trainees an additional opportunity to network, discuss poster and session highlights, and relax away from the excitement of the meeting. Trainee members of ASHG committees will be available at designated times to answer any questions and explain the opportunities ASHG has to offer trainees at the meeting and beyond. The Career Resources Booth 1533 operated by FASEB and ASHG is located next to the Professional Development Theater and offers career guidance, interview tips, resume/CV critiques, one-on-one coaching (by appointment only), and more. Employment Boards will be available in this area for viewing and posting positions.
THE GRUBER GENETICS Prize Ceremony and Lecture Ballroom 20A San Diego Convention Center Sunday, October 19 6:30 pm – 7:30 pm The Genetics Prize is awarded annually by The Gruber Foundation. The Genetics Prize is presented to a leading scientist, or up to three, in recognition of groundbreaking contributions to any realm of genetics research. The recipients will each be presented with a gold laureate pin and will share the $500,000 unrestricted cash award.
Victor Ambros, PhD Professor of Molecular Medicine University of Massachusetts Medical School
Sir David Baulcombe, PhD Professor of Botany University of Cambridge
Gary Ruvkun, PhD Professor of Genetics Massachusetts General Hospital
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For further information see www.gruber.yale.edu
All three recipients are pioneers in the study of small non-coding RNAs, molecules that are recognized as playing a critical role in regulating gene expression. While working both independently and collaboratively, Ambros and Ruvkun identified the existence of microRNAs in animals and how they repress genes whose activities are essential for development. Baulcombe established that small RNAs perform a similar silencing process in plants. These discoveries launched an exciting new field of scientific research with wide-ranging implications for human health and disease and for improving agricultural production.
The Gruber Genetics Prize has been presented annually since 2001. Laureates are: Rudolf Jaenisch, H. Robert Horvitz, David Botstein, Mary-Claire King, Robert H. Waterston, Elizabeth H. Blackburn, Maynard V. Olson, Allan C. Spradling, Janet Davison Rowley, Gerald Fink, Ronald Davis, Douglas Wallace, Svante Pääbo.
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UPPER LEVEL Nursing Mothers/ Family Room
WALKWAY Room 30 Scientific Session
Speaker Ready Room
ion
Sails Pavil
Ballroom 20D Scientific Sessions
Room 28 Scientific Sessions
Ballroom 20B/20C Scientific Sessions
Walkway to
Ballroom 6DE Scientific Sessions
Coat and Luggage Check
Press Office Room 22
WALKWAY
Escalators down to Lower Level: Exhibits/Posters Hall B1
Escalators down to Lower Level: Exhibits/Posters Hall B1
Escalators down to Lower Level: Exhibits/Posters Hall B1
HILTON SAN DIEGO BAYFRONT HOTEL
Ballroom 6CF Scientific Sessions
Genetics Portrait Project
Ballroom 20A Scientific Sessions ASHG Office Room 23
ssions
and from Se
Ballroom 6AB Scientific Sessions
GROUND LEVEL
Take stairs to Prayer Room, Mezzanine Level
Exhibits and Posters ASHG Central/AJHG Booth Career Resources and the Professional Development Theater Trainee Lounge
Hall B1: Scientific Sessions Presidential Address Plenary Sessions ASHG Award Presentations Distinguished Speakers Symposium ASHG/ESHG Building Bridges Session ASHG Business Meeting
Entrance Registration
Escalators to Upper Level
FIRST AID
Escalators up to Sessions Rooms and Meeting Rooms /Offices
Business Center
T RESTAURAN ON INFORMATI CENTER
Escalators up to Sessions Rooms and Meeting Rooms
SAN DIEGO MARRIOTT HOTEL & MARINA
Room 29 Scientific Session
MAP 1: CONVENTION CENTER San Diego Convention Center 111 W. Harbor Drive, San Diego, CA 92101 Tel: 619-525-5000
THE PORCH THE KITCHEN TABLE
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South Tower - Level 3
THE PANTRY
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THE DINING ROOM
PRIVATE DINING ROOMS
SAN DIEGO BAY
Lobby Level
GUEST REGISTRATION
(LEVEL 1)
TEQUILA BAR & GRILLE
PRESIDIO ROOMS
TORREY PINES ROOMS
RANCHO SANTA FE ROOMS
South Tower - Level 4
CONFERENCE ROOM 7
CABANAS (LEVEL 1)
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MAP 2: MARRIOTT HOTEL & MARINA (Headquarters Hotel) 333 W. Harbor Drive, San Diego, CA 92101 Tel: 619-234-1500
BROADWAY
San Diego Marriott Marquis & Marina Embassy Suires Hotel San Diego Bay- Downtown Hard Rock Hotel San Diego Hilton San Diego Bayfront Hotel Hilton San Diego Gaslamp Quarter Horton Grand Hotel Manchester Grand Hyatt San Diego Omni San Diego Hotel San Diego Marriott Gaslamp Quarter
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Walking time (in minutes) from SDCC
San Diego Bay
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Embarcadero Broadway Pier
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10TH AVE.
October 18-22, 2014 San Diego Convention Center
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Hotel Locator Map
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American Society of Human Genetics 64th Annual Meeting
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MAP 3: HOTEL LOCATOR MAP The housing counter telephone number is 619-525-6203. You may also contact onPeak at 312-329-9513 or 800-219-8916; email
[email protected]. Below is a list RIRI¿FLDO$6+*KRWHOV Marriott Hotel & Marina: 619-234-1500 Manchester Grand Hyatt Hotel: 619-232-1234 Embassy Suites: 619-239-2400 Hard Rock Hotel: 619-702-3000 Hilton Bayfront: 619-564-3333 Hilton Gaslamp: 619-231-4040 Horton Grand Hotel: 619-544-1886 Marriott Gaslamp Quarter: 619-696-0234 Omni Hotel: 619-231-6664
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GENERAL INFORMATION ABOUT THE MEETING All events for the 64th Annual Meeting of the American Society of Human Genetics will be held at the San Diego Convention Center (Convention Center), unless otherwise indicated. The Convention Center, also referred to as the SDCC, is located at 111 W. Harbor Drive, San Diego, CA 92101. Tel: 619-525-5000. All Annual Meeting details are available on the ASHG 2014 Annual Meeting website at www.ashg.org/2014meeting.
Invited Sessions: The program is highlighted by 16 invited scientific sessions that have been scheduled over two concurrent time periods as follows: • Concurrent Invited Sessions I: Sunday from 10:00 am-12:00 pm • Concurrent Invited Sessions II: Wednesday from 9:00 am-11:00 am Featured Plenary Presentations (abstract-driven): These sessions include a diverse set of presentations selected from the top-rated abstracts submitted and have been programmed as listed below. Each author will give a 15-minute presentation, with an additional five minutes for discussion. • Featured Presentation I: Saturday from 5:30 pm-7:00 pm (four abstracts) • Featured Presentation II: Monday from 8:00 am-8:25 am (one abstract) • Featured Presentation III: Tuesday from 8:00 am-8:25 am (one abstract) Platform Sessions (abstract-driven): The Program Committee has assembled 50 abstract-driven platform sessions totaling 400 oral presentations. Each presenting author will give a 10-minute talk followed by five minutes of discussion. There are five sets of ten concurrent platform sessions, consisting of eight presentations each and programmed as follows: • • • • •
Concurrent Platform Sessions A: Sunday from 1:30 pm-3:30 pm Concurrent Platform Sessions B: Monday from 10:30 am-12:30 pm Concurrent Platform Sessions C: Monday from 4:30 pm-6:30 pm Concurrent Platform Sessions D: Tuesday from 10:30 am-12:30 pm Concurrent Platform Sessions E: Tuesday from 4:30 pm-6:30 pm
Poster Sessions (abstract-driven): Poster listings include the title of abstracts and the first/presenting author’s name, preceded by the abstract/poster board numbers in bold print. Each number is followed by an S (Sunday), M (Monday), or T (Tuesday) to indicate the day on which authors must be present at their poster board. Each author is expected to be present for one of the two hours during that day. The posters are expected to remain on the boards for all three poster sessions.
GENERAL INFORMATION
Abstracts of the plenary, platform, and poster presentations may be viewed online only at the ASHG meeting website, www.ashg.org/2014meeting. Abstract search/ printing stations will be located in the registration area of the Convention Center. Abstracts are not available in print. Speakers in the invited sessions do not provide published abstracts.
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GENERAL INFORMATION
Mobile App Download the ASHG 2014 Mobile App to your smartphone (iOS and Android platforms). The Mobile App gives you the meeting at your fingertips wherever you go. Once the app has been downloaded, you do not need an internet connection to view information. Users of Blackberrys or Windows Mobile Devices have full access to the Program through the web version available at ashg.org/2014meeting. Social Media Policy Please refer to the ASHG 2014 Annual Meeting website under general information for the dos and don’ts of Social Media. Remember, everything is tweetable and can be blogged, unless a speaker requests to opt out. Attendees are encouraged to post their thoughts on exciting scientific or clinical advances they have heard about during the meeting, and on challenges that the field and the Society will face in the coming years. Use hashtag #ASHG14 on Twitter or post on our Facebook page at https://www.facebook. com/GeneticsSociety. Follow ASHG on Twitter for the latest meeting updates at http://twitter.com/geneticssociety. Internet/Wi-Fi/Cyber Café Complimentary Wi-Fi is available in all public lobbies and meeting space of the Convention Center. To access the Wi-Fi, select the wireless browser SSID ASHG14 and enter the password ASHG14. If you have technical issues, contact the Smart City Networks help line: 619-525-5500. Please refrain from downloading large files and/or videos, which tend to use a lot of bandwidth. Remember to log off when you are not using the wireless service. A Cyber Café is located in Lobby D. Attendees are asked to limit their time on the computers in the Cyber Café to 15 minutes per session. Photography/Camera/Recording Policy Attendees are strictly prohibited from using cameras, including mobile phone and tablet cameras, and all other video/audio recording devices in all meeting session rooms, on the Exhibit Hall floor, and in all poster/oral presentations. This means that attendees are not permitted to take pictures or videos of speaker slides, posters, or exhibit booths. Attendees not adhering to this policy may be asked to leave the room and will be asked to delete all pictures or videos already taken; additional action may be taken with repeated or egregious offenders. When registering, you are required to agree that you will adhere to this policy. Food Service ASHG will provide coffee service each morning outside Hall B1 and in the Sails Pavilion. In addition, ASHG will provide light lunch refreshments inside the Exhibit Hall Sunday through Tuesday. Starbucks is located in Lobby A and Lobby D. Café Express, offering hot and cold sandwiches, salads, pizza, and fries will be open inside the Exhibit Hall each day. In addition, portable coffee and snack stations will be available in various areas throughout the building. Hours vary and will be posted at each location.
GENERAL INFORMATION
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REGISTRATION, BADGE, AND PROGRAM PICKUP Scientific meeting registration, badge, program, and bag pickup is located in Lobby D of the Convention Center and is open during the following hours: Saturday Sunday Monday Tuesday Wednesday
12:00 pm – 6:00 pm 7:00 am – 5:00 pm 7:30 am – 5:00 pm 7:30 am – 5:00 pm 7:30 am – 10:00 am
Exhibitor registration is also located in Lobby D. On-site registration fees are shown below in U.S. dollars. $600 $850 $300 $525 $95 $400 $125
The registration fee includes entry to all invited scientific sessions, platform sessions, award presentations, the distinguished speakers symposium, the ASHG/ESHG building bridges session, the business meeting, poster sessions, exhibits, and the welcome reception. The fee does not include admission to separate ticketed events and does not include meals. Guest registration is available for family members or guests of registered delegates. Guests may register for a fee of $125, which includes admission to the Exhibit Hall, including the welcome reception on Sunday night. The guest registration does not include access to scientific sessions. To register as a guest, you must be accompanied by a paying scientific registrant. The back of your badge is your registration receipt. Please retain this for your records. A $10 fee will be charged to registrants for each replacement badge requested, i.e., to replace badges that are left at home or in hotel rooms, lost, or forgotten.
GENERAL INFORMATION
ASHG Member Non-member Trainee ASHG Member Trainee Non-member Trainee One-day Developing Country Guest Registration
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GENERAL INFORMATION
MEETING OFFICES AND KEY Y LOCATIONS Office hours will be posted on site. All telephone numbers listed below will be operational from Saturday, October 18 through Wednesday, October 22. ASHG Office and Meeting Logistics Room 23, Upper Level Telephone: 619-525-6205
ASHG Central/Membership Services Exhibit Hall (Booth 1331), Ground Level Telephone: 619-525-6207
Business Center Lobby D, Ground Level Telephone: 619-525-5450
Luggage Storage and Coat Check Sails Pavilion, Upper Level
Exhibit Registration/Exhibit Management Lobby E, Ground Level Telephone 619-525-6200 Refer to page 43 for hours. Family/Nursing Mothers Room Room 10, Upper Level First Aid Lobby E, Ground Level Dial 5490 from any house phone located in the hallways outside all meeting rooms. Call 619-525-6215 from your mobile device.
Prayer/Meditation Room Show Office D, Mezzanine Level Press Office and Press Registration Room 22, Upper Level Telephone: 619-525-6209 Registration Management/ Registration Help Lobby D, Ground Level Telephone: 619-525-6202 San Diego/Restaurant Information/ Tours and Activities Lobby E, Ground Level Telephone: 619-525-5616
Housing/Hotels Lobby D, Ground Level
Security/Emergency Dial 5490 from any house phone located in the hallways outside all meeting rooms.
Housing Counter: 619-525-6203 ASHG 2014 Housing Bureau (onPeak) Tel: 312-329-9513 or 800-219-8916 Email:
[email protected] Refer to page 39 for a map of hotels in the official ASHG block.
Speaker-Ready/Presentation Uploads Room 33C, Upper Level Telephone: 619-525-6208 Refer to page 240 for hours and instructions.
Information Lobby D, Ground Level Telephone: 619-525-6201
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TRAINEE AWARDS
ASHG CHARLES J. EPSTEIN TRAINEE AWARDS FOR EXCELLENCE IN HUMAN GENETICS RESEARCH ASHG honors excellence in research conducted by predoctoral and postdoctoral trainees, including genetic counseling trainees, through merit-based awards that recognize highly competitive abstracts submitted to the Annual Meeting. Congratulations to the 51 semifinalists (see page 48). Semifinalists were selected based on abstract score and awarded complimentary registration plus $750 each. Of those semifinalists, 18 finalists (selected by the Awards Committee) received an additional $250. The finalists’ presentations will be reviewed by the ASHG Awards Committee and volunteer judges during the Annual Meeting. Six winners will be chosen to receive an additional $1000 each. The winners will be announced on Wednesday, October 22 at the Business Meeting Members of the Awards Committee are Beth Sullivan, Chair; Fowzan Alkuraya; Valerie Arboleda; Georgia Dunston; Raju Kucherlapati; Charles Lee; Silvère M. van der Maarel; and Cynthia Morton (ex officio). Finalists Name, Presentation, Date, and Time
Session Number
Program Number
Award Category
Room
Nuttle, X. Saturday, 5:50 pm (Plenary) Human-specific gene evolution and ...
02
2
Predoctoral
Hall B1 Ground Level
Hatton, E. Sunday, 1:30 pm (Platform) Re-engineering meiotic recombination in ...
12
5
Predoctoral
Hall B1 Ground Level
Blumenthal, I. Sunday, 3:00 pm (Platform) Transcriptional consequences of 16p11.2 ...
13
19
Predoctoral
Room 6AB Upper Level
van de Bunt, M. Sunday, 3:00 pm (Platform) Integrated analysis of pancreatic islet ...
18
59
Postdoctoral Room 20D Upper Level
Kulzer, J. R. Sunday, 3:15 pm (Platform) T2D-associated ARAP1 regulates GTPase ...
18
60
Predoctoral
Karczewski, K. J. Monday, 8:00 am (Plenary) The Human Knockout Project: systematic ...
22
85
Postdoctoral Hall B1 Ground Level
Room 20D Upper Level
TRAINEE AWARDS
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Kretzschmar, W. Monday, 10:30 am (Platform) A genotype likelihood based phasing and ...
35
150
Predoctoral
Maurano, M. T. Monday, 10:30 am (Platform) Large-scale profiling of sequence ...
36
158
Postdoctoral Room 30 Upper Level
Ongen, H. Monday, 11:00 am (Platform) Cis-regulatory drivers in colorectal ...
33
136
Postdoctoral Room 20D Upper Level
Hwang, Y.-C. Monday, 12:00 noon (Platform) Identification and characterization of ...
36
164
Predoctoral
Yu, B. Monday, 12:15 pm (Platform) Loss-of-function variants influence the ...
28
101
Postdoctoral Room 6AB Upper Level
Gruhn, J. Monday, 5:00 pm (Platform) Bringing homologs together: Sex- and ...
44
224
Postdoctoral Room 28 Upper Level
Campbell, I. M. Tuesday, 10:45 am (Platform) Parental somatic mosaicism contributes an ...
53
280
Predoctoral
Viñuela, A. Tuesday, 11:00 am (Platform) Analysis of the genetic variation and age ...
53
281
Postdoctoral Room 20A Upper Level
Gu, S. Tuesday, 11:45 am (Platform) Alu-enriched genomic structure facilitates ...
56
308
Postdoctoral Room 28 Upper Level
Zamani Esteki, M. Tuesday, 4:30 pm (Platform) Whole-genome single-cell haplotyping, a ...
59
327
Predoctoral
60 *Glubb, D. M. Tuesday, 4:45 pm (Platform) Candidate causal variants from three ...
336
Postdoctoral Room 6AB Upper Level
59
329
Predoctoral
Room 30 Upper Level
Room 20A Upper Level
Hall B1 Ground Level
Hall B1 Ground Level
*Dr. Glubb also is the recipient of a travel award provided by ASHG in honor of Dr. Richard Gibbs (Baylor College of Medicine), a native of Australia, and an ASHG Board member who was recently awarded the prestigious honor of the Companion of the Order of Australia.
TRAINEE AWARDS
Findlay, G. M. Tuesday, 5:00 pm (Platform) Saturation genome editing by multiplex ...
Room 29 Upper Level
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TRAINEE AWARDS
ASHG/CHARLES J. EPSTEIN TRAINEE AWARDS FOR EXCELLENCE IN HUMAN GENETICS RESEARCH SEMIFINALISTS
The number next to each name indicates the author’s abstract number. Predoctoral Belbin, Gillian, 175 Bryois, Julien, 283 Feng, Shuang, 22 Frank, Christopher, 163 Heidary, Maryam, 138 Hore, Victoria, 262 Hsiao, Meng-Chang, 309 Kichaev, Gleb, 868S Kim, David, 359 Ko, Arthur, 183 Kwong, Alan, 385 Lee, Arthur, 222 Narasimhan, Vagheesh, 99 Nelson, Sarah, 220 Samocha, Kaitlin, 198 Uricchio, Lawrence, 201 Wang, Miaoyan, 25 Wolf, Zena, 77
Postdoctoral Blackburn, August, 21 Brand, Harrison, 16 Civelek, Mete, 278 Gambin, Tomasz, 51 Han, Buhm, 258 Hare, Abby, 208 Hause, Ronald, 247 Kilpeläinen, Tuomas, 1044T Loh, Marie, 187 Loh, Po-Ru, 200 Madar, Aviv, 254 Manning, Alisa, 56 Paternoster, Lavinia, 391 Quon, Gerald, 248 Stessman, Holly, 210
MARC AWARDS
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WELCOME TO THE 2014 FASEB MARC TRAVEL AWARDEES Each year, the ASHG/FASEB-MARC Program sponsors Travel Awards to help support the participation of faculty/mentors, postdoctoral fellows, and students from minority institutions and historically black colleges and universities in the United States. Underrepresented minority faculty, students, and postdoctoral fellows from majority institutions are also eligible to apply for these travel awards. The MARC travel awards provide up to $1,850 in funding for travel-related expenses. The travel awards are supported by a federal training grant from the NIGMS/NIH (T36-GM08059-32).
Faculty/Mentor & Student/Mentee Dr. Nadeem Fazal, Chicago State University Devin Ross, Chicago State University
MARC TRAVEL AWARDEES
Poster/Oral presenter Kinsley Belle, University of Miami Calvin Carter, University of Iowa Monique Courtenay, University of Miami Kacie Deters, Indiana University School of Medicine Michael Gonzalez, University of Miami Wenndy Hernandez, University of Chicago Crystal Humphries, University of Miami Latifa Jackson, Drexel University Janina Jeff, Mount Sinai School of Medicine Tennille Leak-Johnson, University of Michigan Sahar Mozaffari, University of Chicago Nicole Restrepo, Vanderbilt University Melissa Spear, University of California, San Francisco Krystal Tsosie, Vanderbilt University Nora Urraca, University of Tennessee, Health Science Center
INVITED AND PLATFORM SESSIONS
Saturday, October 18 5:00 PM–5:30 PM
Saturday, October 18 5:30 PM–6:50 PM
SESSION 1. ASHG Presidential Address: The Time of Our Lives
2. Plenary Abstracts Featured Presentation I
Hall B1, Ground Level, Convention Center Presenter: Cynthia Casson Morton Brigham and Women’s Hospital/Harvard Medical School
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Hall B1, Ground Level, Convention Center Moderator: Andrew S. McCallion, Johns Hopkins Univ, Baltimore These sessions include a diverse set of presentations selected from the top-rated abstracts. Each author will give a 15-minute presentation, with an additional five minutes for discussion. 1/5:30 The UK10K project: Rare variants in health and disease. N. Soranzo, UK10K Consortium.
While every instant ever known to me as a human geneticist has been exciting, we now live in a moment in history when our science is poised as never before to improve personal and public health. The rapidity of technological advances in sequencing has been nothing short of amazing, and the biomedical applications of genomics surround us and are steadily increasing. Presently, we face formidable challenges in variant interpretation and in the optimal way to deliver information from genetic tests. We find ourselves engaged in frequent discourse about how to validate the function of variants and what results should be communicated to individuals. Yet, we have a history of delivering genetic information that is of uncertain clinical significance and that is incidental in nature. I believe this experience has prepared us for our next steps in this journey, and that we will go forward in earnest on a daily basis to provide state-of-the-art knowledge to all those who seek our assistance. It is our privilege. But it also is our responsibility to improve that knowledge at the greatest possible speed. How will we go about this task? This will be a legacy of our times, and is the time of our lives as human geneticists.
2/5:50 Human-specific gene evolution and structural diversity of the chromosome 16p11.2 autism CNV. X. Nuttle, G. Giannuzzi, M. H. Duyzend, P. H. Sudmant, O. Penn, G. Chiatante, M. Malig, J. Huddleston, L. Denman, L. Harshman, C. Baker, A. Raja, K. Penewit, F. Antonacci, R. Bernier, A. Reymond, E. E. Eichler. 3/6:10 Discovery and functional characterization of recurrent gene fusions from 7,470 primary tumor transcriptomes across 28 human cancers. C. Bandlamudi, P. Lin, J. Tian, R. Grossman, K. White. 4/6:30 Phase III trial of afamelanotide 16 mg subcutaneous bioresorbable implants for the treatment of erythropoietic protoporphyria. R. J. Desnick, K. E. Anderson, D. M. Bissell, J. R. Bloomer, H. L. Bonkovsky, M. Lebwohl, H. Lim, C. Parker, J. Phillips, H. Naik, M. Balwani.
INVITED AND PLATFORM SESSIONS Taking photographs or sound/audio recordings of speakers and slides in all meeting rooms is strictly prohibited. You agreed to this policy when registering for the meeting. Thank you for your cooperation.
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INVITED AND PLATFORM SESSIONS
Sunday, October 19 8:00 AM–9:30 AM SESSION 3. Distinguished Speakers Symposium: Separating Signal from Noise Hall B1, Ground Level, Convention Center Moderators: Cynthia Casson Morton, Brigham and Women’s Hosp/Harvard Med Sch; Andrew S. McCallion, Johns Hopkins Univ, Baltimore This symposium will address the challenges inherent in the pursuit of genome sequencing/genomic data as a universal diagnostic/prognostic/therapeutic guide in human disease research and clinical application. This discussion, which will include experts from outside the ASHG community, will highlight the challenges and opportunities presented by big data in the genomics era. 8:00 AM Genomic Analytics with IBM Watson. A. Royyuru. IBM Watson Research Center. 8:30 AM Lessons from a Mixed Marriage: Big Sequencing Meets Big Data. D. Glazer. Google. 9:00 AM CDC.
Medicine and Public Health. M. Khoury.
Sunday, October 19 10:00 AM–12:00 PM Concurrent Invited Session I 4. Beyond Canonical CNVs: Interpreting Other Forms of Genomic Structural Variation Room 6CF, Upper Level, Convention Center Moderators: Ryan E. Mills, Univ Michigan, Ann Arbor; Jan Korbel, European Molec Biol Lab (EMBL), Heidelberg, Germany Although the past decade has greatly expanded our knowledge of copy number variations (CNVs) and their role in human health and disease, technological limitations have hampered the discovery and characterization of several remaining forms of structural variation, including multi-allelic CNVs, sequence insertions, as well as balanced inversions. The emergence of longer sequencing reads coupled with advances in computational approaches for structural variant inference has now allowed for the accurate detection of balanced rearrangements as well as insertions of repetitive, retroduplicated, and non-template genomic material, and can be used as a starting point to dissect the structure of genomic loci that have undergone repeated duplications. In this session, we will describe the progress that has been made in examining these important forms of structural variation with the latest technologies and assessing their impact on population diversity and evolution. We will also discuss the analysis and interpretation of multi-allelic genomic regions. Topics will include an exploration into functional effects at the transcriptome level as well as genetic and epigenetic preferences for variant formation mechanisms. A retrospective look at what was missed in previous large-scale studies will also be discussed. 10:00 A M Analysis of SVs in human populations. M. Gerstein. Yale Univ, New Haven. 10:30 A M Complex and multi-allelic forms of copy number variation. S. McCarroll. Harvard Med Sch, Boston. 11:00 A M Genomic landscape of polymorphic nuclear mitochondrial insertions in humans and other primates. R. E. Mills. Univ Michigan, Ann Arbor. 11:30 A M Discovery and impact of balanced inversion polymorphisms. J. Korbel. European Molec Biol Lab (EMBL), Heidelberg, Germany.
Taking photographs or sound/audio recordings of speakers and slides in all meeting rooms is strictly prohibited. You agreed to this policy when registering for the meeting. Thank you for your cooperation.
INVITED AND PLATFORM SESSIONS
Sunday, October 19 10:00 AM–12:00 PM Concurrent Invited Session I
Sunday, October 19 10:00 AM–12:00 PM Concurrent Invited Session I
5. Beyond Mendel: Complexities of Simple Mendelian Disorders
6. Crowdsourced Genetics
Room 20A, Upper Level, Convention Center Moderators: Jeenah Park, Johns Hopkins Sch Med, Baltimore; Shira G. Ziegler, Johns Hopkins Sch Med, Baltimore Single-gene disorders are called Mendelian disorders because they display patterns of inheritance largely consistent with Mendel’s laws. Single-gene disorders with classic Mendelian inheritance can be autosomal or sex-linked, and dominant or recessive. The more we learn about the molecular etiology of classic Mendelian disorders, the more we realize that our view of disease transmission frequently represents an oversimplification of reality. For instance, patients with the same disorder, which is inherited in a monogenic fashion following the Mendelian model, often exhibit a wide range of phenotypic presentation/severity. Identification of the specific disease genes has played a significant role in improving our understanding of gene functions and biological pathways associated with the corresponding diseases. Nonetheless, we should look for ways in which we can close the gap in our understanding of the factors that modify disease severity. What makes these so-called “simple” Mendelian disorders complex? To answer this question, we will explore four classic Mendelian disorders – Cystic Fibrosis, Retinitis Pigmentosa, Spinocerebellar Ataxia, and Muscular Dystrophy – many of which are characterized by vast phenotypic heterogeneity. Allelic heterogeneity and nonpenetrance can obscure the patterns of inheritance and make it difficult to predict the consequence of each mutation. Moreover, genetic modifiers modulate so-called Mendelian phenotypes more than we have appreciated. Through a deeper understanding of the allelic contribution and interactions with other factors, we can broaden our view and integrate new insights uncovered by recent research on disease etiology, progression, and differential therapeutic strategies.
10:30 A M Opening Pandora’s box: The molecular basis of non-penetrance in PRPF31-associated retinitis pigmentosa. A. M. Rose. UCL Inst Ophthalmol, London, United Kingdom. 11:00 A M RNA-sequencing reveals a complex role of Ataxin-1 in SCA1. M. A. Ingram. Univ Minnesota, Minneapolis.
Room 6AB, Upper Level, Convention Center Moderators: Itisk Pe’er, Columbia Univ, New York; Yaniv Erlich, Whitehead Inst Biomed Res, Cambridge, MA Crowd science aims to leverage the power of the masses to tackle scientific tasks that are challenging to address with traditional methodologies. The history of crowd science goes back to Galton, who was the first to report that estimations by a large number of amateurs can collectively yield similar values to precise measurements by conventional means. In the last few years, we have witnessed renewed interest in crowd science approaches. The advent of social media has created vast opportunities to partner with large crowds and engage individuals to participate in various parts of the scientific process. This session will present crowd science models that have been successfully applied to fundamental challenges in human genetics. First, we will show how crowd data mining by citizen genealogists enabled the building of an ultra-large family tree of millions of people, which provided sufficient statistical power to dissect the genetic architecture of complex traits. Second, we will show how crowd computation leverages the brainpower of hundreds of thousands of gamers to fold proteins, a challenging problem for traditional bioinformatics algorithms. Third, we will show crowd experiments that integrate genetic signals and clinical data to gain insight into drug repositioning for type 2 diabetes and inflammatory bowel disease. Finally, we will present the successful crowdfunding for research on a very rare genetic disorder, fatal familial insomnia, using Experiment.com. Together, this session will highlight technical frameworks and methodologies for crowd science in human genetics and common themes and lessons learned from reaching out to the crowd. 10:00 A M Crowd mining: Dissecting the genetic architecture of complex traits with millions of people. Y. Erlich. Whitehead Inst Biomed Res, Cambridge, MA. 10:30 A M Crowd computing: Scientific discoveries by protein folding game. F. Khatib. Univ Massachusetts, Dartmouth. 11:00 A M Crowd experiments: Translating a trillion points of data into new disease insights. A. Butte. Stanford Univ. 11:30 A M Crowd funding: A personal quest to cure prion disease. S. Vallabh, E. Minikel. PrionAlliance, Boston.
11:30 A M The muscular dystrophies: Revealing the genetic and phenotypic variability. N. M. Vieira. Boston Children’s Hosp, Harvard Med Sch.
Taking photographs or sound/audio recordings of speakers and slides in all meeting rooms is strictly prohibited. You agreed to this policy when registering for the meeting. Thank you for your cooperation.
INVITED AND PLATFORM SESSIONS
10:00 A M Elucidating the contribution of CFTR allelic variation and modifier genes to phenotypic variation in cystic fibrosis. J. Park. Johns Hopkins Sch Med, Baltimore.
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INVITED AND PLATFORM SESSIONS
Sunday, October 19 10:00 AM–12:00 PM Concurrent Invited Session I
Sunday, October 19 10:00 AM–12:00 PM Concurrent Invited Session I
7. Curiouser and Curiouser! Navigating Career Transitions and Challenges in Genetics
8. Targeted Drug Therapies for Progressive Genetic Disorders
Room 20BC, Upper Level, Convention Center Moderators: Amy L. Stark, Univ Chicago; Krista A. Geister, Seattle Children’s
Room 6DE, Upper Level, Convention Center Moderators: Joseph G. Hacia, Univ Southern California, Los Angeles; Nancy E. Braverman, McGill Univ, Montreal
The training of a young geneticist prepares him or her to make decisions regarding the planning and execution of genetic research. However, there are some components of a successful career that are not incorporated in formalized training programs. The majority of this type of learning is achieved through mentoring and life experience. For example, the act of self-promotion may seem straightforward, but there are different and more effective ways to promote oneself at various stages of one’s career. What are the secrets to success at various stages? What are these unforeseen challenges facing young scientists, and how can they be met? How does one bring together clinical and basic science interests to form a productive and stimulating career? What are the challenges that face women and how can they be overcome? The goal of this session is to answer these questions and many more with presentations from individuals with experience in tackling the numerous challenges trainees experience as they progress in their careers. 10:00 AM When, where, why, what, and how: Finding/recruiting for the right postdoctoral position. B. E. Stranger. Univ Chicago. 10:30 AM Clinical connection: Careers in genetic diagnostics. K. Deak. Duke Univ, Durham. 11:00 AM Launching your academic career: Take off the training wheels and enjoy the ride. S. Camper. Univ Michigan, Ann Arbor. 11:30 AM Hitting your Stride with Work and Life: Balancing a Career in Genetics with Family Life. M. Urbanek. Northwestern Univ, Chicago.
Expanded newborn screening and genome sequencing provide powerful means to identify individuals with progressive genetic disorders at an early or presymptomatic stage of disease. This presents an unprecedented opportunity for therapeutic interventions that delay disease onset and/or halt progression before irreversible damage occurs. Here, we will review recent progress towards developing drug therapies targeted to the molecular mechanisms underlying diverse progressive genetic disorders including cystic fibrosis, Duchenne muscular dystrophy, lysosomal storage disorders, and tuberous sclerosis. We will discuss large-scale NIH drug screening initiatives and highlight an FDA-approved mutation-specific drug therapy for cystic fibrosis as a model in which disease identification at birth can precede clinical symptoms. Furthermore, we will describe results from clinical trials that evaluate the efficacy of rationally designed drug therapies that target dysfunctional cell regulation at the level of signaling and growth factor pathways. 10:00 AM Drug screening for genetic disorders: Recent progress and future developments. J. Inglese. NCATS/NIH, Rockville. 10:30 AM Genotype-specific targeted small molecule therapies for cystic fibrosis. B. Ramsey. Univ Washington Sch Med, Seattle. 11:00 AM Exon skipping and nonsense suppressor therapies to treat Duchenne muscular dystrophy. S. F. Nelson. UCLA. 11:30 AM Targeting molecular signaling pathways to treat Mendelian disorders with progressive neurologic involvement. M. J. Gambello. Emory Univ Sch Med, Atlanta.
Taking photographs or sound/audio recordings of speakers and slides in all meeting rooms is strictly prohibited. You agreed to this policy when registering for the meeting. Thank you for your cooperation.
INVITED AND PLATFORM SESSIONS
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Sunday, October 19 10:00 AM–12:00 PM Concurrent Invited Session I
Sunday, October 19 10:00 AM–12:00 PM Concurrent Invited Session I
9. The X-Factor of Complex Disease: From Evolution to Association Studies of the X Chromosome
10. Using Zebrafish to Model Human Genetic Disease Variation
Room 30, Upper Level, Convention Center Moderators: Alon Keinan, Cornell Univ, Ithaca; Melissa A. Wilson Sayres, Arizona State Univ, Tempe
Room 29, Upper Level, Convention Center Moderators: Barry H. Paw, Brigham and Women’s Hosp, Boston; Nicholas Katsanis, Duke Univ, Durham
Despite sexual dimorphism of most complex human diseases studied in genome-wide association studies, the sex chromosomes have been mostly omitted. Not only can they explain a portion of “missing heritability” of currently available genotyping data across thousands of studies, but without appropriate methods they will remain unexplored in the era of sequencebased studies. Many problems need to be resolved for the X chromosome to be studied thoroughly. In this session speakers will describe progress and novel results in the understanding of X-inactivation, interpretation of the unique patterns of population genetic variation on the X chromosome and, importantly, how these lead to exciting new methods for analyzing the X chromosome in association and functional studies of complex human diseases and quantitative traits. Novel X-linked complex disease risk loci underlying several diseases will be presented, as well as how X-inactivation can be studied to better understand the function of long noncoding RNA. The session will show how ignoring the sex chromosomes may affect interpretations of population and medical genetic data and will demonstrate that understanding their role in medical genetics and their unique response to evolutionary history, is an important step towards uncovering sexual dimorphism in disease etiology.
As genomic sequences become more available, the bottleneck in human genetics is shifting from identifying genetic variants to understanding their function. Model organisms that are genetically tractable are a powerful tool for rapidly screening variants. As a vertebrate with relatively fast development, Danio rerio (zebrafish) is often an ideal organism for assessing the phenotypic impact of sequence changes. This session will provide insight into the technologies used to manipulate zebrafish, as well as several examples of major ongoing projects that are using zebrafish as a crucial component of a human genetics clinical research program. The speakers will describe projects that have implicated numerous genes in kidney disease, developmental disorders, and cardiac diseases, and directions for future research and clinical application. 10:00 AM Coupling exome sequencing and functional modeling in neonates. N. Katsanis. Duke Univ, Durham. 10:30 AM From association to mechanism: Using zebrafish to evaluate GWAS loci. D. J. Milan. Massachusetts Gen Hosp, Charlestown.
10:00 aM Population genomics of sex chromosome evolution. M. A. Wilson Sayres. Arizona State Univ, Tempe.
11:00 AM Zebrafish genome editing tools using random and targeted engineering for individualized medicine applications. S. C. Ekker. Mayo Clin Col Med, Rochester.
10:30 AM Contrasting the impact of natural selection on the X chromosome and autosomes amongst apes. K. R. Veeramah. Stony Brook Univ.
11:30 AM Using zebrafish genetics to discover the developmental basis of human disease. C. B. Moens. Fred Hutchinson Cancer Res Ctr, Seattle.
11:30 AM Dosage regulation of the X chromosome: Role of Sex Differences in Health and Disease. C.M. Disteche. Univ of Washington, Seattle.
Taking photographs or sound/audio recordings of speakers and slides in all meeting rooms is strictly prohibited. You agreed to this policy when registering for the meeting. Thank you for your cooperation.
INVITED AND PLATFORM SESSIONS
11:00 AM Methods for association studies of the X chromosome and their application to unraveling its role in autoimmune diseases. A. Keinan. Cornell Univ, Ithaca.
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INVITED AND PLATFORM SESSIONS
Sunday, October 19 10:00 AM–12:00 PM Concurrent Invited Session I
Sunday, October 19 1:30 PM–3:30 PM Concurrent Platform Session A
11. Whole Genome/Exome Sequencing: Patient Expectations, Literacy, and Preferences for Genomic Information
12. Patterns and Determinants of Genetic Variation: Recombination, Mutation, and Selection
Room 20D, Upper Level, Convention Center Moderators: Amy L. McGuire, Baylor Col Med, Houston; Gail Henderson, Univ North Carolina Sch Med, Chapel Hill A primary challenge in the integration of whole genome and whole exome sequencing into clinical care is to develop best practices for offering testing and communicating test results to patients in a way that is highly responsive to patients’ expectations, genetic knowledge and literacy, and preferences for genomic information. In 2010 the NIH initiated a Clinical Sequencing Exploratory Research (CSER) program intended to develop methods needed for clinical integration of whole genome and whole exome sequencing and to conduct ethical, legal, and psychosocial research to help inform the responsible application of genomic sequencing to clinical practice. During this session we will report baseline findings from four NHGRI-funded CSER studies, summarize lessons learned, and discuss implications of our data for offering and conducting clinical sequencing in diverse patient populations. 10:00 AM The MedSeq Pilot Project: Patient perspectives from a randomized trial of whole genome sequencing. A. L. McGuire. Baylor Col Med, Houston. 10:30 AM The CanSeq Project: Opportunities and challenges of integrating whole exome sequencing into the care of advanced care patients. S. Gray. Dana Farber Cancer Inst, Brookline, MA. 11:00 AM NCGENES: Factors related to expectations for WES testing and decisions to receive incidental findings among a diverse patient population. C. Rini. Univ North Carolina at Chapel Hill. 11:30 AM PEDISEQ: Parent perspectives and the inclusion of children in decisions about whole exome sequencing. B. A. Bernhardt. Perelman Sch Med, Univ Pennsylvania, Philadelphia.
Hall B1, Ground Level, Convention Center Moderators: Emilia Huerta-Sanchez, UC Berkeley; Joseph Pickrell, New York Genome Center 5/1:30 Re-engineering meiotic recombination in the mouse. E. Hatton, B. Davies, J. Hussin, F. Pratto, D. Biggs, N. Altemose, N. Hortin, C. Preece, D. Moralli, A. Gupta-Hinch, K. Brick, C. Green, D. Camerini-Otero, S. Myers, P. Donnelly. 6/1:45 Examining variation in recombination levels in the human female: A test of the production line hypothesis. R. Rowsey, J. Gruhn, K. Broman, P. Hunt, T. Hassold. 7/2:00 The fine-scale landscape of meiotic gene conversion. A. L. Williams, J. Blangero, M. Przeworski. 8/2:15 Recombination maps for Latino populations based on ancestry inference. S. Shringarpure, D. Wegmann, C. Gignoux, B. Maples, A. FerrerAdmetlla, A. Moreno-Estrada, K. Sandoval, C. Eng, S. Huntsman, A. Ko, T. Tusie-Luna, C. Aguilar-Salinas, P. Pajukanta, D. Torgerson, E. Burchard, J. Below, B. Pasaniuc, S. Gravel, J. Novembre, C. Bustamante. 9/2:30 The human X chromosome is the target of megabase wide selective sweeps associated with multi-copy genes expressed in male meiosis and involved in reproductive isolation. M. H. Schierup, K. Munch, K. Nam, T. Mailund, J. Y. Dutheil. 10/2:45 New insights on human de novo mutation rate and parental age. W. S. W. Wong, B. Solomon, D. Bodian, D. Thach, R. Iyer, J. Vockley, J. Niederhuber. 11/3:00 Cholera resistance in Bangladesh: Combining signals of ancient, pathogen-driven selection with genome-wide association to understand immune response. E. K. Karlsson, I. Shylakhter, F. Qadri, J. B. Harris, S. B. Calderwood, E. T. Ryan, R. C. LaRocque, P. C. Sabeti. 12/3:15 Direct detection of genetic dominance from natural variation in human populations. D. Balick, R. Do, D. Reich, S. Sunyaev.
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INVITED AND PLATFORM SESSIONS
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Sunday, October 19 1:30 PM–3:30 PM Concurrent Platform Session A 13. Genomic Studies of Autism Room 6AB, Upper Level, Convention Center Moderators: James S. Sutcliffe, Vanderbilt Sch Med, Nashville; Alex Bassuk, Univ Iowa, Iowa City
20/3:15 Most genetic risk for autism resides with common variation. J. D. Buxbaum, B. Devlin, K. Roeder, Population-based Autism Genetics and Environment Study (PAGES) Consortium.
13/1:30 Exome analyses reveal new autism genes in synaptic, transcriptional, and chromatin networks. S. De Rubeis, K. Roeder, B. Devlin, M. J. Daly, J. D. Buxbaum, The Autism Sequencing Consortium. 14/1:45 Defining the contribution of different classes of de novo mutation to autism. I. Iossifov, B. J. O’Roak, S. J. Sanders, N. Krumm, M. Ronemus, D. Levy, J. Shendure, E. E. Eichler, M. W. State, M. Wigler. 15/2:00 Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder. M. Uddin, K. Tammimies, G. Pellecchia, B. Alipanahi, P. Hu, Z. Wang, D. Pinto, L. Lau, T. Nalpathamkalam, C. Marshall, B. Blencowe, B. Frey, D. Merico, R. Yuen, S. Scherer. 16/2:15 The landscape and clinical impact of cryptic structural variation in autism and related neuropsychiatric disorders. H. Brand, V. Pillalamarri, R. Collins, S. Eggert, M. Stone, I. Blumenthal, C. O’Doushlaine, E. Braaten, J. Rosenfeld, S. Mccarroll, J. Smoller, A. Doyle, M. Talkowski. 17/2:30 Diagnostic utility of whole exome sequencing and chromosomal microarray in a clinically well-defined autism spectrum disorder cohort. K. Tammimies, B. A. Fernandez, S. Walker, B. Thiruvahindrapuram, G. Kaur, A. C. Lionel, W. Roberts, R. Weksberg, J. L. Howe, M. Uddin, R. K. C. Yuen, Z. Wang, L. Lau, P. Szatmari, K. Whitten, C. Vardy, V. Crosbie, B. Tsang, R. Liu, L. D’Abate, S. Luscombe, T. Doyle, S. Stuckless, D. Merico, D. J. Stavropoulos, C. R. M. Marshall, S. W. Scherer.
19/3:00 Transcriptional consequences of 16p11.2 microdeletion/microduplication syndrome in mouse cortex converges on genes and pathways associated with autism and known intellectual disability syndromes. I. Blumenthal, A. Ragavendran, S. Erdin, C. Golzio, A. Sugathan, J. Guide, V. Wheeler, A. Reymond, N. Katsanis, J. F. Gusella, M. E. Talkowski.
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INVITED AND PLATFORM SESSIONS
18/2:45 Integrative functional genomics following suppression of CHD8 identifies transcriptional signatures that are enriched for autism genes and macrocephaly. M. Biagioli, A. Sugathan, C. Golzio, I. Blumenthal, S. Erdin, P. Manavalan, A. Ragavendran, D. Lucente, J. Miles, S. D. Sheridan, A. Stortchevoi, S. J. Haggarty, J. F. Gusella, N. Katsanis, M. E. Talkowski.
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Sunday, October 19 1:30 PM–3:30 PM Concurrent Platform Session A
Sunday, October 19 1:30 PM–3:30 PM Concurrent Platform Session A
14. Statistical Methods for Pedigree-Based Studies
15. Prostate Cancer: Expression Informing Risk
Room 6CF, Upper Level, Convention Center Moderators: Ingrid Borecki, Washington Univ in St. Louis; Frances Gagnon, Univ Toronto, Canada
Room 6DE, Upper Level, Convention Center Moderators: Paul Scheet, Univ Texas, MD Anderson Cancer Ctr, Houston; Amanda E. Toland, The Ohio State Univ, Columbus
21/1:30 Utilizing rare variants for phasing and imputation in pedigrees. A. Blackburn, J. Blangero, H. Göring. 22/1:45 The “Jackpot” Effect: When do family samples provide more power to detect traitassociated rare variants? S. Feng, G. Pistis, A. Mulas, M. Zoledziewska, F. Busonero, S. Sanna, D. Liu, F. Cucca, G. R. Abecasis. 23/2:00 Sequence kernel association test for multivariate quantitative phenotype in family samples. Q. Yan, B. Li, W. Chen, N. Liu. 24/2:15 Genetic network inference in studies of multiple phenotypes from related individuals. J. Marchini, A. Dahl, V. Hore. 25/2:30 G-STRATEGY: Optimal selection of individuals to genotype in genetic association studies with related individuals. M. Wang, J. Jakobsdottir, A. V. Smith, M. S. McPeek. 26/2:45 Using a population-based linkage analysis approach to identify transcript QTL in skeletal muscle tissues in a founder population. W.-C. Hsueh, S. Kobes, R. L. Hanson. 27/3:00 Testing for disease association with rare compound heterozygous and recessive mutations in case-parent sequencing studies. A. Allen, Y. Jiang, J. McCarthy. 28/3:15 Statistical approaches for rare-variant association testing in affected sibships. M. P. Epstein, E. Ware, M. A. Jhun, L. F. Bielak, W. Zhao, J. Smith, P. A. Peyser, S. L. R. Kardia, G. A. Satten.
29/1:30 Functional partitioning of prostate cancer heritability in European Americans and African Americans from AAPC and BPC3 consortia reveals tissue specific regulation. B. Pasaniuc, A. Gusev, F. R. Schumacher, S. Lindstrom, M. Pomerantz, F. Li, H. Long, P. Kraft, A. L. Price, M. Freedman, C. A. Haiman, BPC3 Consortium, AAPC Consortium. 30/1:45 Prostate cancer risk locus at 8q24 as a regulatory hub by physical interactions with multiple genomic loci across the genome. M. Du, T. Yuan, K. Schilter, R. Dittmar, A. Mackinnon, X. Huang, M. Tschannen, E. Worthey, H. Jacob, S. Xia, J. Gao, L. Tillmans, Y. Lu, P. Liu, S. Thibodeau, L. Wang. 31/2:00 Genome-wide association study of 35K men with 300K prostate specific antigen measures identifies numerous novel loci: potential for personalized screening for prostate cancer. J. S. Witte, T. J. Hoffmann, L. Sakoda, E. Jorgenson, D. S. Aaronson, J. Shan, L. A. Habel, J. C. Presti, C. Schaefer, N. Risch, S. K. Van Den Eeden. 32/2:15 Germline sequencing for genetic markers of aggressive prostate carcinoma susceptibility. D. Koboldt, K. Kanchi, D. Larson, R. Fulton, E. Mardis, A. Kibel. 33/2:30 Identification of candidate target genes for prostate cancer risk-SNPs utilizing a normal prostate tissue eQTL dataset. S. N. Thibodeau, A. J. French, S. K. McDonnell, J. C. Cheville, S. Middha, S. M. Riska, S. Baheti, Z. C. Fogarty, L. S. Tillmans, M. C. Larson, N. B. Larson, A. A. Nair, D. R. O’Brien, J. I. Davila, Y. Zhang, L. Wang, J. M. Cunninghman, D. J. Schaid. 34/2:45 Association of prostate cancer risk variants with gene expression in normal prostate and tumor tissue. K. L. Penney, J. A. Sinnott, S. Tyekucheva, T. Gerke, I. Shui, P. Kraft, H. D. Sesso, M. L. Freedman, M. Loda, L. A. Mucci, M. J. Stampfer. 35/3:00 Discovery and functional characterization of an oncogenic PTEN mutation: Implications for personalized cancer genome therapy. H. A. Costa, M. G. Leitner, M. L. Sos, A. Mavrantoni, A. Rychkova, M. C. Yee, F. M. De La Vega, J. M. Ford, K. M. Shokat, D. Oliver, C. R. Halaszovich, C. D. Bustamante.
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INVITED AND PLATFORM SESSIONS
Sunday, October 19 1:30 PM–3:30 PM (SESSION 15, continued)
Sunday, October 19 1:30 PM–3:30 PM Concurrent Platform Session A
36/3:15 Convergent Genomics Validates C2orf43 Role in Prostate Cancer. B. B. Currall, K. E. Wong, N. G. Robertson, A. Lunardi, M. Reschke, P. P. Pandolfi, C. C. Morton.
16. Variant Calling: What Makes the Difference?
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Room 20A, Upper Level, Convention Center Moderators: Deanna M. Church, Personalis, Menlo Park, CA; Aaron Quinlan, Univ Virginia, Charlottesville 37/1:30 Alignment to an ancestry specific reference genome discovers additional variants among 1000 Genomes ASW Cohort. R. A. Neff, J. Vargas, G. H. Gibbons, A. R. Davis. 38/1:45 Detecting novel sequence insertions in 3000 individuals from short read sequencing data. B. Kehr, P. Melsted, A. Jónasdóttir, A. Sigurðsson, A. Gylfason, D. Guðbjartsson, B. V. Halldórsson, K. Stefánsson. 39/2:00 SNAP: Fast, accurate sequence alignment enabling biological applications. R. Pandya, W. Bolosky, M. Zaharia, T. Sittler, K. Curtis, C. Hartl, A. Fox, S. Schenker, I. Stoica, D. Patterson. 40/2:15 Precise identification of copy number variants in whole-genome data using median coverage profiles. G. Glusman, T. Farrah, D. E. Mauldin, A. B. Stittrich, S. Ament, L. Rowen, J. C. Roach, M. Brunkow, M. Robinson, A. F. A. Smit, R. Hubley, D. Bodian, J. Vockley, I. Shmulevich, J. Niederhuber, L. Hood. 41/2:30 Accurate read mapping using a graphbased human pan-genome. W. Lee, E. Garrison, D. Kural, G. Marth. 42/2:45 The impact of GRCh38 on clinical sequencing. D. M. Church, J. Harris, G. Bartha, M. Pratt, A. Patwardhan, S. Chervitz, S. Kirk, M. Clark, S. Garcia, J. West, R. Chen. 43/3:00 Optimized exome sequencing for discovery research: Improved metrics and methods to enhance variant discovery across the biomedical footprint of the genome. M. Pratt, S. Luo, G. Bartha, J. Harris, N. Leng, C. Haudenschild, R. Chen, J. West.
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INVITED AND PLATFORM SESSIONS
44/3:15 SpeedSeq: A 24-hour alignment, variant calling, and genome interpretation pipeline. C. Chiang, R. M. Layer, G. G. Faust, M. R. Lindberg, A. R. Quinlan, I. M. Hall.
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Sunday, October 19 1:30 PM–3:30 PM Concurrent Platform Session A 17. New Genes, Incidental Findings and Unexpected Observations Revealed by Exome Sequencing Room 20BC, Upper Level, Convention Center Moderators: Joris A. Veltman, Radbound Univ Med Ctr, Nijmegen, Netherlands; Thomas Meitinger, Technical Univ Munich, Germany
50/2:45 Assessment of the success rate of two years of large-scale exome sequencing efforts to identify genes for Mendelian conditions at the University of Washington Center for Mendelian Genomics. J. X. Chong, J. Shendure, D. A. Nickerson, M. J. Bamshad, University of Washington Center for Mendelian Genomics.
45/1:30 Genomic sequencing approach identifies novel rare variants in patients with Mendelian neurologic diseases. E. Karaca, D. Pehlivan, T. Harel, S. Weitzer, H. Shiraishi, T. Gambin, Y. Bayram, W. Wiszniewski, S. N. Jhangiani, G. Yesil, S. Isikay, O. Ozalp Yuregir, S. Bozdogan, H. Aslan, T. Tos, D. Gul, B. Yilmaz, O. Cogulu, K. Karaer, H. Ulucan, D. Muzny, M. Seven, A. Yuksel, T. Clausen, T. Tuschl, A. Hess, R. A. Gibbs, J. Martinez, J. M. Penninger, J. R. Lupski.
51/3:00 A comparative analysis of allele frequencies for incidental findings among five populations based on the analyses of 11K whole exome sequences. T. Gambin, S. Jhangiani, J. E. Below, J. Staples, A. Morrison, A. Li, I. Campbell, W. Wiszniewski, D. M. Muzny, M. N. Bainbridge, R. A. Gibbs, J. R. Lupski, E. Boerwinkle.
46/1:45 Individualized iterative phenotyping for genome-wide analysis of loss of function mutations. J. J. Johnston, K. Lewis, D. Ng, L. N. Singh, J. Wynter, C. Brewer, B. P. Brooks, I. Brownell, F. Candotti, S. G. Gonsalves, P. S. Hart, H. H. Kong, K. I. Rother, R. Sokolic, B. D. Solomon, W. M. Zein, D. N. Cooper, P. D. Stenson, J. C. Mullikin, L. G. Biesecker. 47/2:00 Genomic approach identifies novel proteins necessary for inner ear function and development across multiple species. O. Diaz-Horta, M. Grati, C. Abad, A. DeSmidt, G. Bademci, A. Subasioglu-Uzak, J. Foster II, S. Tokgoz-Yilmaz, D. Duman, F. B. Cengiz, S. H. Blanton, X. Z. Liu, A. Farooq, Z. Lu, K. Walz, M. Tekin.
52/3:15 Why next-generation sequencing studies may fail: Challenges and solutions for gene identification in the presence of familial locus heterogeneity. R. L. P. Santos-Cortez, A. U. Rehman, M. C. Drummond, M. Shahzad, K. Lee, R. J. Morell, M. Ansar, A. Jan, X. Wang, A. Aziz, S. Riazuddin, J. D. Smith, G. T. Wang, Z. M. Ahmed, K. Gul, A. E. Shearer, R. J. H. Smith, J. Shendure, M. J. Bamshad, D. A. Nickerson, J. Hinnant, S. N. Khan, R. A. Fisher, W. Ahmad, K. H. Friderici, S. Riazuddin, T. B. Friedman, E. S. Wilch, S. M. Leal, University of Washington Center for Mendelian Genomics.
48/2:15 A Drosophila genetic resource to study human disease genes and its use for gene discovery in human exome data. M. F. Wangler, S. Yamamoto, M. Jaiswal, W. L. Charng, T. Gambin, E. Karaca, G. Mirzaa, W. Wiszniewski, H. Sandoval, N. Haelterman, V. Bayat, D. Pehlivan, S. Penney, L. Vissers, S. Jhangiani, S. Tsang, Y. Xie, Y. Parman, E. Battaloglu, D. Muzny, Z. Liu, R. Clark, C. Curry, E. Boerwinkle, W. Dobyns, R. Allikmets, R. Gibbs, R. Chen, J. R. Lupski, H. Bellen. 49/2:30 Genome sequencing identifies major causes of severe intellectual disability. C. Gilissen, J. Y. Hehir-Kwa, D. Thung, M. van de Vorst, B. W. M. van Bon, M. H. Willemsen, M. Kwint, I. M. Janssen, A. Hoischen, A. Schenck, R. Leach, R. Klein, R. Tearle, T. Bo, R. Pfundt, H. G. Yntema, B. B. A. de Vries, T. Kleefstra, H. G. Brunner, L. E. L. M. Vissers, J. A. Veltman.
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Sunday, October 19 1:30 PM–3:30 PM Concurrent Platform Session A 18. Type 2 Diabetes Genetics Room 20D, Upper Level, Convention Center Moderators: Maggie Ng, Wake Forest Sch Med, Winston-Salem; Craig Hanis, Univ Texas Hlth Sci Ctr, Houston
59/3:00 Integrated analysis of pancreatic islet eQTLs and regulatory state maps identifies putative causal mechanisms at T2D-associated loci. M. van de Bunt, J. E. Manning Fox, K. J. Gaulton, A. Barrett, X. Q. Dai, M. Ferdaoussi, P. E. MacDonald, M. I. McCarthy, A. L. Gloyn.
53/1:30 Genome-wide association study imputed to 1000 Genomes reveals 18 novel associations with type 2 diabetes. R. A. Scott, R. Magi, A. P. Morris, L. Marullo, K. Gaulton, M. Boehnke, J. Dupuis, M. I. McCarthy, L. J. Scott, I. Prokopenko, DIAGRAM+ Consortium.
60/3:15 T2D-associated ARAP1 regulates GTPase activity, insulin processing and secretion in the pancreatic beta cell. J. R. Kulzer, R. C. McMullan, M. P. Fogarty, K. L. Mohlke.
54/1:45 Genome-wide association and exome sequence data analysis for more than 100 traits in Mexican Americans. J. E. Below, B. E. Cade, D. Aguilar, E. Brown, H. M. Highland, S. Redline, G. I. Bell, N. J. Cox, C. L. Hanis. 55/2:00 Three common recessive variations explain more than 20% of all cases of type 2 diabetes in Greenland. A. Albrechtsen, I. Moltke, M. E. Jørgensen, P. Bjerregaard, E. V. R. Appel, R. Nielsen, O. Pedersen, N. Grarup, T. Hansen. 56/2:15 A low frequency AKT2 coding variant enriched in the Finnish population is associated with fasting insulin levels. A. K. Manning, H. H. Highland, X. Sim, N. Grarup, T. Tukiainen, J. Gasser, A. Mahajan, M. A. Rivas, A. E. Locke, J. Tuomilehto, M. Laakso, S. Ripatti, J. B. Meigs, D. Altshuler, M. Boehnke, M. I. McCarthy, A. L. Gloyn, C. M. Lindgren, T2D Genes, GoT2D.
58/2:45 Dense fine-mapping reveals FOXA2-bound sites as a genomic marker of type 2 diabetes risk. K. J. Gaulton, T. M. Teslovich, T. Ferreira, M. Reschen, A. Mahajan, Y. Lee, M. van de Bunt, N. W. Rayner, A. Raimondo, C. O’Callaghan, A. L. Gloyn, A. P. Morris, M. I. McCarthy, DIAGRAM Consortium.
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INVITED AND PLATFORM SESSIONS
57/2:30 Association of genetic variants with metabolic traits and multiple disease outcomes to inform therapeutic target validation: Strengths and limitations of a GLP1R variant. D. F. Freitag, R. A. Scott, L. Li, J. L. Aponte, S. M. Willems, J. Wessel, A. Y. Chu, S. Wang, P. Munroe, M. den Hoed, I. B. Borecki, C. Liu, G. M. Peloso, J. M. M. Howson, A. S. Butterworth, J. Danesh, J. Dupuis, J. I. Rotter, J. B. Meigs, M. O. Goodarzi, S. O’Rahilly, M. G. Ehm, N. J. Wareham, D. Waterworth, CVD50 Consortium, CHARGE Consortium, CHD Exome+ Consortium, CARDIOGRAM Exome.
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Sunday, October 19 1:30 PM–3:30 PM Concurrent Platform Session A
Sunday, October 19 1:30 PM–3:30 PM Concurrent Platform Session A
19. Genomic Methods in Clinical Practice
20. Genetics and Mechanisms in Neurological Disorders
Room 28, Upper Level, Convention Center Moderators: Yaping Yang, Baylor Col Med, Houston; Swaroop Aradhya, Invitaue Inc, Palo Alto 61/1:30 Discordant non-invasive prenatal testing and cytogenetic results: Is there a cause for concern? J. Wang, T. Sahoo, S. Schonberg, K. Kopita, L. Ross, K. Patek, C. Strom. 62/1:45 Implementation of microarray analysis for oncology samples: Effectiveness for detection of both copy number changes and copy-neutral loss of heterozygosity. S. Schwartz, R. Burnside, I. Gadi, V. Jaswaney, E. Keitges, A. Penton, K. Phillips, H. Risheg, J. Schleede, J. Tepperberg, P. Papenhausen. 63/2:00 A cost-effective screen for identifying novel transposable element insertions in human genomes. E. M. Kvikstad, G. Lunter. 64/2:15 NUC-seq: Single-cell exome sequencing using G2/M nuclei. M. L. Leung, Y. Wang, J. Waters, N. E. Navin. 65/2:30 Simple and robust NGS RNA-based assay to assess impact of VUS on splicing. E. Girard, J. Tarabeux, E. Bernard, A. Collet, A. Legrand, V. Moncoutier, C. Dehainault, J. P. Vert, D. StoppaLyonnet, N. Servant, C. Houdayer. 66/2:45 Making sense of sequence variation in PPARG: A comprehensive experimental approach. A. Majithia, J. Flannick, T. Mikkelsen, D. Altshuler. 67/3:00 Molecular combing for fascioscapulohumeral dystrophy type 1: Benefits of direct visualization of DNA fibers. C. M. Strom, J. C. Wang, X. J. Yang, B. H. Nguyen, V. Sulcova, P. Chan, Y. Liu, A. Anguiano, F. Z. Boyar. 68/3:15 An augmented exome providing accurate structural variant detection. A. Patwardhan, S. Chervitz, M. Li, J. Harris, G. Bartha, D. Newburger, M. Pratt, S. Garcia, J. Tirch, N. Leng, C. Haudenschild, S. Luo, D. Church, J. West, R. Chen.
Room 29, Upper Level, Convention Center Moderators: Nara Sobreira, Johns Hopkins Univ, Baltimore; Peng Jin, Emory Univ Sch Med, Atlanta 69/1:30 Mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor. H. Hor, L. Francescatto, L. Bartesaghi, S. Ortega-Cubero, M. Kousi, O. Lorenzo- Betancor, F. J. Jiménez-Jiménez, A. Gironell, J. Clarimón, O. Drechsel, J. A. G. Agúndez, D. Kenzelmann Broz, R. Chiquet-Ehrismann, A. Lleó, F. Coria, E. García-Martin, H. Alonso-Navarro, M. J. Martí, J. Kulisevsky, C. N. Hor, S. Ossowski, R. Chrast, N. Katsanis, P. Pastor, X. Estivill. 70/1:45 Mitochondrial serine protease HTRA2 p.G399S in a 6-generation kindred with Essential Tremor and Parkinson’s Disease. H. Unal Gulsuner, S. Gulsuner, N. Durmaz Mercan, O. E. Onat, T. Walsh, H. Shahin, O. Dogu, T. Kansu, H. Topaloglu, B. Elibol, C. Akbostanci, M.-C. King, T. Ozcelik, A. B. Tekinay. 71/2:00 De novo mutations in SIK1 dysregulate HDAC5-MEF2C activity and cause Ohtahara syndrome and infantile spasms. J. N. Hansen, C. Snow, E. Tuttle, D. Ghoneim, C. Smyser, C. A. Gurnett, M. Shinawi, W. B. Dobyns, J. Wheless, M. W. Halterman, L. A. Jansen, B. M. Paschal, A. R. Paciorkowski. 72/2:15 Haploinsufficiency of Pumilio1 leads to SCA1-like neurodegeneration by increasing wild-type Ataxin1 levels in a miRNA-independent manner. V. A. Gennarino, R. Singh, J. J. White, K. Han, A. De Maio, P. Jafar-Nejad, A. di Ronza, H. Kang, H. T. Orr, R. V. Sillitoe, H. Y. Zoghbi. 73/2:30 Exome sequencing unveils novel diseasecausing variation in Charcot-Marie-Tooth disease and suggests genetic burden contributes to phenotypic variability and complex neuropathy. C. Gonzaga-Jauregui, T. Harel, T. Gambin, M. Kousi, L. B. Griffin, M. N. Bainbridge, K. S. Lawson, D. Pehlivan, Y. Okamoto, M. Withers, P. Mancias, A. Slavotinek, P. J. Reitnauer, M. Shy, T. O. Crawford, M. Koenig, M. T. Goksungur, S. Jhangiani, J. Willer, B. N. Flores, W. Wiszniewski, A. Antonellis, N. Katsanis, D. M. Muzny, E. Boerwinkle, R. A. Gibbs, J. R. Lupski, BaylorHopkins Center for Mendelian Genomics. 74/2:45 Genome-wide association study identifies common variants associated with general and MMR vaccine-related febrile seizures. B. Feenstra, B. Pasternak, F. Geller, L. Carstensen, T. Wang, F. Huang, J. L. Eitson, M. V. Hollegaard, H. Svanström, M. Vestergaard, D. M. Hougaard, J. W. Schoggins, L. Y. Jan, M. Melbye, A. Hviid.
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Sunday, October 19 1:30 PM–3:30 PM (SESSION 20, continued)
Sunday, October 19 1:30 PM–3:30 PM Concurrent Platform Session A
75/3:00 A genome-wide meta-analysis of migraine in more than 59,000 cases and 313,000 controls reveals 29 new loci, increasing the total number of risk loci to 42. P. Gormley, V. Anttila, M. Muona, A. Palotie, on behalf of the International Headache Genetics Consortium (IHGC).
21. Developmental Genetics: Immunodeficiencies and Autoimmune Disorders
76/3:15 Brain somatic mutations cause focal cortical dysplasia type II in human and mouse. J. S. Lim, W. I. Kim, H. C. Kang, S. H. Kim, A. H. Park, S. Kim, D. Kim, D. S. Kim, J. H. Lee.
Room 30, Upper Level, Convention Center Moderators: Wendy K. Chung, Columbia Univ, New York; Simon Mallal, Vanderbilt Sch Med, Nashville 77/1:30 Parallel studies in humans and dogs implicate ADAMTS20 in cleft lip and palate formation. Z. Wolf, B. Arzi, E. Leslie, J. Shaffer, H. Brand, C. Willet, N. Karmi, T. McHenry, E. Feingold, X. Wang, J. Murray, M. Marazita, C. Wade, D. Bannasch. 78/1:45 Identification of a novel susceptibility locus for nonsyndromic cleft lip and palate at chromosome 15q13. K. U. Ludwig, A. C. Boehmer, H. Peters, D. Graf, P. Gültepe, P. A. Mossey, R. P. Steegers-Theunissen, M. Rubini, M. M. Nöthen, M. Knapp, E. Mangold. 79/2:00 Variants in developmental genes confer risk of hypospadias. F. Geller, B. Feenstra, L. Carstensen, T. H. Pers, I. A. L. M. van Rooij, I. B. Körberg, S. Choudhry, J. Karjalainen, T. H. Schnack, M. V. Hollegaard, W. F. J. Feitz, N. Roeleveld, D. M. Hougaard, J. N. Hirschhorn, L. S. Baskin, A. Nordenskjöld, L. F. M. van der Zanden, M. Melbye. 80/2:15 Increased frequency of de novo predicted deleterious variants in non-isolated congenital diaphragmatic hernia. L. Yu, A. Sawle, J. Wynn, G. Aspelund, C. Stolar, M. Arkovitz, D. Potoka, K. Azarow, G. Mychaliska, Y. Shen, W. Chung. 81/2:30 A mutation in transferrin receptor 1 that disrupts iron internalization causes a novel immunodeficiency. S. E. Boyden, H. H. Jabara, J. Chou, N. Ramesh, M. J. Massaad, L. Notarangelo, M. D. Fleming, W. Al-Herz, L. M. Kunkel, R. S. Geha.
83/3:00 COPA mutations disrupt intracellular transport and cause a novel autoimmune syndrome characterized by chronic pulmonary disease with pulmonary hemorrhages. W. Wiszniewski, L. B. Watkin, B. Jessen, T. Vece, L. Forbes, C. GonzagaJauregui, S. N. Jhangiani, D. M. Muzny, E. Boerwinkle, R. A. Gibbs, A. Shum, J. Orange, J. R. Lupski.
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82/2:45 TRNT1 missense mutations define an autoinflammatory disease characterized by recurrent fever, severe anemia, and B-cell immunodeficiency. M. Stoffels, Q. Zhou, A. Giannelou, D. Stone, A. Sediva, S. Rosenzweig, J. Edwan, M. Pelletier, K. Bishop, B. Carrington, R. Sood, E. F. Remmers, K. Barron, I. Aksentijevich, D. L. Kastner.
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Sunday, October 19 1:30 PM–3:30 PM (SESSION 21, continued) 84/3:15 Mendelian genetic studies of immune disorders to identify novel targets for therapeutic intervention. J. McElwee, X. Chen, J. Lyons, G. Sun, X. Yu, J. Milner, Y. Liuv, Z. Deng, A. Almeida de Jesus, R. Goldbach-Mansky, Y. Zhang, H. Matthews, H. Su, M. Lenardo.
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Monday, October 20 8:00 AM–8:25 AM
Monday, October 20 8:30 AM–8:45 AM
22. Plenary Abstracts Featured Presentation II
23. ASHG Award for Excellence in Human Genetics Education Presentation
Hall B1, Ground Level, Convention Center Moderator: Kay E. Davies, Univ. Oxford, UK 85/8:00 The Human Knockout Project: systematic discovery of loss-of-function variants in humans. K. J. Karczewski, V. Narasimhan, M. Lek, M. Rivas, S. Balasubramanian, M. Gerstein, B. Keating, T. Lappalainen, A. Palotie, M. Daly, D. van Heel, R. Trembath, R. Durbin, D. G. MacArthur.
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Hall B1, Ground Level, Convention Center The ASHG Award for Excellence in Human Genetics Education was established to recognize those who have made significant contributions of exceptional quality and great importance to human genetics education. Introduction: Shawn E. McCandless Case Western Reserve University Recipient:
Suzanne B. Cassidy, MD Clinical Professor of Pediatrics in Division of Medical Genetics University of California, San Francisco Well-known for her clinical and research leadership in Prader-Willi syndrome, Dr. Cassidy has played key roles in the genetics education of medical students, residents, and trainees as well as of patients and their families. She has developed a variety of educational materials, including three editions of the textbook Management of Genetic Syndromes, and clinical genetics training programs across the country.
A longtime member of ASHG, Dr. Cassidy belonged to the Society’s Information and Education Committee from 1987-1990, participated in its Rapid Action Task Force on Genetic Testing in 1995, and was a member of its Nominating Committee in 2007. She also served on the ASHG Board of Directors from 1993-1995. Past Recipients: Jessica G. Davis (2013); Alan Emery (2012); Giovanni Romeo (2011); Thomas D. Gelehrter (2010); Bruce R. Korf (2009); John Carey, Lynn Jorde, and Louisa Stark (2008); Robert Elston (2007); Roberta “Bonnie” Pagon (2006); Joseph McInerney (2005).
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Throughout her career, Dr. Cassidy has received numerous honors for her research and teaching, including election to several advisory boards, founding editorship for clinical genetics in the journal Genetics in Medicine, and visiting professorships at institutions in the United States and abroad. She was also a member of the founding Residency Review Committee for Medical Genetics when the field was first recognized as a medical specialty, and has served on the American Board of Medical Genetics and Genomics. She currently serves as president of the International Prader-Willi Syndrome Organisation.
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Monday, October 20 8:45 AM–9:00 AM
Monday, October 20 8:45 AM–9:00 AM (SESSION 24, continued)
24. ASHG Victor A. McKusick Leadership Award Presentation
An ASHG member since 1982, Dr. Valle belonged to ASHG’s Nominating Committee from 1995-1996 and its Awards Committee from 2001-2003, and was Chair of the Awards Committee from 2006-2008. He served on the Editorial Board of The American Journal of Human Genetics from 1989-1991, and since 1992, has co-directed the annual Short Course in Medical and Experimental Mammalian Genetics. In addition, Dr. Valle was part of ASHG’s Board of Directors from 1990-1992 and 2002-2005, including a year as its President in 2003.
Hall B1, Ground Level, Convention Center ASHG named this prestigious award to honor Dr. Victor A. McKusick’s far-reaching contributions to human genetics. The McKusick Leadership Award is presented to an individual whose professional achievements have fostered and enriched the development of human genetics. Recipients of this award exemplify the enduring leadership and vision required to ensure that human genetics will flourish and successfully assimilate into the broader context of science, medicine, and health. Introduction: Rod R. McInnes Lady Davis Res. Institute Jewish General Hospital
Past Recipients: Kurt and Rochelle Hirschhorn (2013); Francis Collins (2012); Leon E. Rosenberg (2011); Charles J. Epstein (2010); Arno G. Motulsky (2009); Victor A. McKusick (2008); Walter Nance (2007); David Rimoin (2006).
Recipient:
David Valle, MD Henry J. Knott Professor and Director, McKusick-Nathans Institute of Genetic Medicine Professor, Departments of Biology and Ophthalmology, Johns Hopkins University School of Medicine Dr. Valle’s research has focused on the genetic factors underlying human health and disease, including specific genetic diseases as well as the broader gene-protein interactions that contribute to various health conditions. Notable achievements include characterizing the molecular basis of many single-gene disorders, developing mouse models to study human disorders, and analyzing genetic variants associated with psychiatric diseases such as schizophrenia. In addition, he has led efforts to improve genetics education by developing medical genetics curricula; editing the widely-used biochemical genetics textbook The Metabolic and Molecular Bases of Inherited Disease; and directly training more than 500 students, fellows, and clinical residents. Dr. Valle was inducted into the Institute of Medicine of the National Academy of Sciences in 2002 and named a Fellow of the American Association for the Advancement of Science in 2007. He has received numerous awards for his research and teaching, including the March of Dimes Foundation’s Colonel Harland Sanders Award for Lifetime Achievement in Genetics Research and Education in 2003 and several honorary lectureships.
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Monday, October 20 9:15 AM–9:30 AM
Monday, October 20 9:15 AM–9:30 AM (SESSION 25, continued)
25. ASHG Curt Stern Award Presentation
Dr. Daly has made key advances in the genetic mapping of common diseases, including the development of the first human genome maps of single-nucleotide polymorphisms. He also helped establish a framework for the association of portions of the genome to complex disease risk and the regulation of gene expression. In addition, he has led scientific consortia focusing on genome mapping, inflammatory bowel disease, autism, and schizophrenia, and has contributed to statistical methods and software tools that are routinely used by human geneticists worldwide.
Hall B1, Ground Level, Convention Center The Curt Stern Award honors the memory of Curt Stern (1902-1981) as an outstanding pioneering human geneticist. This award is presented yearly for outstanding scientific achievements in human genetics that occurred in the first 10 years of a research career, while the recipient is still in an early career stage. The work may be a single major discovery or a series of contributions on a similar or related topic. Introduction: Michael Boehnke University of Michigan Co-Recipient:
Gonçalo R. Abecasis, DPhil Felix Moore Collegiate Professor of Biostatistics, University of Michigan School of Public Health
Publisher Thomson-Reuters has listed both Dr. Abecasis and Dr. Daly multiple times among the world’s most cited scientific authors, and they have worked together on the International HapMap Project and the 1000 Genomes Project. Both awardees have also made substantial contributions to ASHG, as longtime members of the Society and frequent presenters at its Annual Meeting. Past Recipients: John F. Moran (2013); Jay Shendure (2012); David Altshuler (2011); Vivian Cheung (2010); David Haussler and James Kent (2009); Evan Eichler (2008); Jeffrey Murray (2007); Hal Dietz (2006); Patrick Brown (2005).
Introduction: Aarno Palotie Massachusetts General Hospital Co-Recipient: Mark J. Daly, PhD Associate Professor of Medicine and Chief of the Analytic and Translational Genetics Unit, Massachusetts General Hospital/Harvard Medical School Senior Associate Member, Broad Institute
Dr. Abecasis has developed statistical and mathematical methods for the analysis of genetic data that have evolved into standard tools in human genetics. In an era of exponential growth in genetic data, his software helps geneticists analyze studies of families and unrelated individuals, characterize variation among genomes, study connections between genetic variation and human disease, and integrate information across gene-mapping studies. He has also led scientific consortia studying a variety of human traits ranging from obesity and heart disease to age-related vision loss, and is currently using next-generation sequencing technology to study large collections of human genomes. Taking photographs or sound/audio recordings of speakers and slides in all meeting rooms is strictly prohibited. You agreed to this policy when registering for the meeting. Thank you for your cooperation.
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This year’s Curt Stern Award honors the early-career contributions of two human geneticists, Gonçalo R. Abecasis and Mark J. Daly.
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Monday, October 20 9:30 AM–10:00 AM
Monday, October 20 10:30 AM–12:30 PM Concurrent Platform Session B
26. ASHG William Allan Award Presentation Hall B1, Ground Level, Convention Center The William Allan Award is the top prize given by the American Society of Human Genetics. It was established in 1961 in memory of William Allan (18811943), who was one of the first American physicians to conduct extensive research in human genetics. The Allan Award is presented annually to recognize substantial and far-reaching scientific contributions to human genetics, carried out over a sustained period of scientific inquiry and productivity. Introduction: Haig Kazazian Johns Hopkins University Recipient: Stuart H. Orkin, MD David G. Nathan Professor of Pediatrics, Harvard Medical School Chairman, Department of Pediatric Oncology, Dana-Farber Cancer Institute Associate Chief of Hematology/ Oncology, Boston Children’s Hospital Investigator, Howard Hughes Medical Institute Dr. Orkin has pioneered research into the genetics of blood diseases, including identifying the primary mutations that cause them, defining factors that regulate how these mutations are expressed in blood cells, and applying these findings to medicine. In the 1970s and early 1980s, his laboratory comprehensively KLMPULKT\[H[PVUZ[OH[SLHK[V[OLʹ[OHSHZZLTPHZ and in the mid-1980s, they became the first group to successfully clone a gene causing a disease without already knowing the encoded protein. More recently, Dr. Orkin’s laboratory characterized the switch from fetal to adult hemoglobin, including its regulation and the basis for genetic variation. They are currently exploring ways to translate these insights into new treatments for thalassemias and sickle cell anemia.
27. Cloudy with a Chance of Big Data Hall B1, Ground Level, Convention Center Moderators: Paul Flicek, European Bioinformatics Inst, Cambridge, UK; Terry Gaasterland, UC San Diego 86/10:30 Using compressed data structures to capture variation in thousands of human genomes. S. A. McCarthy, Z. Lui, J. T. Simpson, Z. Iqbal, T. M. Keane, R. Durbin. 87/10:45 Exploring genetic variation and genotypes among millions of genomes. R. M. Layer, A. R. Quinlann. 88/11:00 Databases, genome repositories, and clinical applications to interpret personal genome for precision and preventative therapies. R. Chen. 89/11:15 dbGaP genotype fingerprint collection. Y. Jin, S. Stefanov, S. Dracheva, Z. Wang, N. Sharopova, A. Sturcke, S. Sherry, M. Feolo. 90/11:30 Integrated analysis of microRNA expression, UTR binding sites, and human variation in ocular tissues. T. Gaasterland, A. N. Dubinsky, L. E. Edsall, T. S. Mondala, P. Ordoukhanian, S. R. Head. 91/11:45 Second-generation PLINK: Rising to the challenge of larger and richer datasets. C. C. Chang, C. C. Chow, L. C. A. M. Tellier, S. Vattikuti, S. M. Purcell, J. J. Lee. 92/12:00 Microtask crowdsourcing for annotating diseases in PubMed abstracts. A. I. Su, B. M. Good, M. Nanis. 93/12:15 Automating literature reviews: Predicting variant pathogenicity using the bibliomic index. C. A. Cassa, D. M. Jordan, S. R. Sunyaev.
Dr. Orkin was elected to the National Academy of Sciences (NAS) in 1991 and the Institute of Medicine in 1992. In 2005, he received the Association of American Medical Colleges Distinguished Research Award and in 2013, he received the NAS Jessie Stevenson Kovalenko Medal. In addition to his contributions to human genetics, Dr. Orkin is a longtime member of ASHG and has served on the editorial board of The American Journal of Human Genetics. Past Recipients: Aravinda Chakravarti (2013); Uta Francke (2012); John M. Opitz (2011); Jurg Ott (2010); Huntington F. Willard (2009); Haig Kazazian (2008); Arthur Beaudet (2007); Dorothy Warburton (2006); Francis Collins (2005).
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Monday, October 20 10:30 AM–12:30 PM Concurrent Platform Session B
Monday, October 20 10:30 AM–12:30 PM Concurrent Platform Session B
28. Architecture and Impact of Human Knockout Alleles
29. Population Structure, Admixture, and Human History
Room 6AB, Upper Level, Convention Center Moderators: Tuuli Lappalainen, Columbia Univ, New York; Eric Boerwinkle, Baylor Col Med, Houston
Room 6CF, Upper Level, Convention Center Moderators: Eimear Kenny, Icahn Sch Med Mount Sinai, New York; Jeff Kidd, Univ Michigan, Ann Arbor
94/10:30 Integrated analysis of protein-coding variation in over 90,000 individuals from exome sequencing data. D. G. MacArthur, M. Lek, E. Banks, R. Poplin, T. Fennell, K. Samocha, B. Thomas, K. Karczewski, S. Purcell, P. Sullivan, S. Kathiresan, M. I. McCarthy, M. Boehnke, S. Gabriel, D. M. Altshuler, G. Getz, M. J. Daly, Exome Aggregation Consortium.
102/10:30 Capture of 390,000 SNPs in dozens of ancient central Europeans reveals a population turnover in Europe thousands of years after the advent of farming. I. Lazaridis, W. Haak, N. Patterson, N. Rohland, S. Mallick, B. Llamas, S. Nordenfelt, E. Harney, A. Cooper, K. W. Alt, D. Reich.
95/10:45 Identification of a large set of rare complete human knockouts. P. Sulem, H. Helgason, A. Oddson, H. Stefansson, SA. Gudjonsson, F. Zink, E. Hjartasson, G. Sigurdsson, A. Jonasdottir, A. Sigurdsson, O. Magnusson, A. Kong, A. Helgason, U. Thorsteinsdottir, G. Masson, D. Gudbjartsson, K. Stefansson. 96/11:00 Making sense of nonsense: Consequence of premature stop mutations. S. Balasubramanian, Y. Fu, M. Pawashe, M. Jin, J. Liu, D. MacArthur, M. Gerstein. 97/11:15 Analysis of stop-gain and frameshift variants in human innate immunity genes. A. Rausell, P. Mohammadi, PJ. McLaren, I. Bartha, I. Xenarios, J. Fellay, A. Telenti. 98/11:30 Insights into protein truncating variation from high-quality indel calling in 1000 UK population exomes - implications for disease gene discovery and clinical utility. E. Ruark, A. Renwick, E. Ramsay, S. Seal, K. Snape, S. Hanks, A. Rimmer, M. Munz, A. Elliott, G. Lunter, N. Rahman.
100/12:00 Analysis of loss-of-function variants in 8,612 deeply-phenotyped individuals identifies novel loci for common chronic disease. A. H. Li, A. C. Morrison, G. Metcalf, L. A. Cupples, J. A. Brody, L. M. Polfus, B. Yu, N. Veeraraghavan, X. Liu, T. Lumley, D. Muzny, T. H. Mosley, R. A. Gibbs, E. Boerwinkle.
104/11:00 Fine-scale population structure in Europe. S. Leslie, G. Hellenthal, S. Myers, P. Donnelly, International Multiple Sclerosis Genetics Consortium. 105/11:15 The population structure and demographic history of Sardinia in relationship to neighboring populations. J. Novembre, C. Chiang, J. Marcus, C. Sidore, M. Zoledziewska, M. Steri, H. Alasadi, G. Abecasis, D. Schlessinger, F. Cucca. 106/11:30 Population structure in AfricanAmericans. S. Gravel, M. Barakatt, B. Maples, M. Aldrich, E. E. Kenny, C. D. Bustamante, S. Baharian. 107/11:45 Genetic testing of 400,000 individuals reveals the geography of ancestry in the United States. Y. Wang, J. M. Granka, J. K. Byrnes, M. J. Barber, K. Noto, R. E. Curtis, N. M. Natalie, C. A. Ball, K. G. Chahine. 108/12:00 Statistical inference of archaic introgression and natural selection in Central African Pygmies. P. Hsieh, J. D. Wall, J. Lachance, S. A. Tishkoff, R. N. Gutenkunst, M. F. Hammer. 109/12:15 Inferences about human history and natural selection from 280 complete genome sequences from 135 diverse populations. S. Mallick, D. Reich, Simons Genome Diversity Project Consortium.
101/12:15 Loss-of-function variants influence the human metabolome. B. Yu, A.H. Li, G. Metcalf, D.M. Muzny, A.C. Morrison, T.H. Mosley, R.A. Gibbs, E. Boerwinkle.
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99/11:45 Exome sequencing of fit adults with high parental relatedness identifies over 600 rare human gene knockouts. V. Narasimhan, K.J. Karczewski, K.A. Hunt, Y. Xue, P. Danecek, S. Mccarthy, C. TylerSmith, C. Griffiths, J. Wright, E.R. Maher, D. Macarthur, R.C. Trembath, D.A. van Heel, R.M. Durbin.
103/10:45 Insights into British and European population history from ancient DNA sequencing of Iron Age and Anglo-Saxon samples from Hinxton, England. S. Schiffels, W. Haak, B. Llamas, E. Popescu, L. Loe, R. Clarke, A. Lyons, P. Paajanen, D. Sayer, R. Mortimer, C. Tyler-Smith, A. Cooper, R. Durbin.
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Monday, October 20 10:30 AM–12:30 PM Concurrent Platform Session B
Monday, October 20 10:30 AM–12:30 PM (SESSION 30, continued)
30. Neurogenetics: From Gene to Mechanism (1)
117/12:15 The importance of neurosteroid hormones in the pathogenesis of protocadherin 19 female limited epilepsy and intellectual disability (PCDH19-FE). J. Gecz, C. Tan, E. Ranieri, D. Pham, C. Shard, K. Hynes, E. Douglas, L. S. Nguyen, M. Corbett, D. Leach, G. Buchanan, E. Haan, L. G. Sadleir, C. Depienne, R. S. Moller, R. Guerrini, C. Marini, S. F. Berkovic, I. E. Scheffer.
Room 6DE, Upper Level, Convention Center Moderators: Stephanie Bielas, Univ Michigan, Ann Arbor; Stephan Züchner, Univ Miami 110/10:30 Galanin mutations in temporal lobe epilepsy. M. Guipponi, A. Chentouf, K. E. B. Webling, K. Freimann, A. Crespel, C. Nobile, T. Dorn, J. Hansen, J. Lemke, G. Lesca, F. Becker, U. Stephani, H. Muhle, I. Helbig, P. Ryvlin, E. Hirsch, G. Rudolf, C. Gehrig, F. Santoni, M. Pizzato, U. Langel, S. E. Antonarakis. 111/10:45 Homozygous mutations in SLC6A17 are causative for autosomal recessive intellectual disability. H. van Bokhoven, Z. Iqbal, M. H. Willemsen, MA. Papon, H. Venselaar, W. M. Wissink-Lindhout, M. Benevento, A. T. Vulto-van Silfhout, L. E. L. M. Vissers, A. P.M. de Brouwer, N. Nadif Kasri, T. F. Wienker, H. Hilger Ropers, L. Musante, K. Kahrizi, H. Najmabadi, F. Laumonnier, T. Kleefstra. 112/11:00 De novo KCNB1 mutations in epileptic encephalopathy. A. Torkamani, K. Bersell, B. S. Jorge, R. L. Bjork, J. R. Friedman, C. S. Bloss, S. E. Topol, G. Zhang, J. Lee, J. Cohen, S. Gupta, S. Naidu, C. G. Vanoye, A. L. George, J. A. Kearney. 113/11:15 A Drosophila genetic resource facilitates the identification of variants in ANKLE2 in a unique family with severe microcephaly. W.-L. Charng, M. Jaiswal, N. Link, S. Yamamoto, T. Gambin, E. Karaca, G. Mirzaa, W. Wiszniewski, B. Xiong, V. Bayat, T. Harel, D. Pehlivan, S. Penney, L. E. Vissers, J. de Ligt, S. Jhangiani, D. Muzny, R. D. Clark, C. J. Curry, E. Boerwinkle, W. B. Dobyns, R. A. Gibbs, R. Chen, M. F. Wangler, H. J. Bellen, J. R. Lupski. 114/11:30 Additive toxicity of SOX10 mutation underlies a complex neurological phenotype of PCWH. K. Inoue, Y. Ito, N. Inoue, Y. U. Inoue, S. Nakamura, Y. Matsuda, M. Inagaki, T. Ohkubo, J. Asami, Y. W. Terakawa, S. Kohsaka, Y. Goto, C. Akazawa, T. Inoue. 115/11:45 Paving the road to elaborate the genetics of intellectual disabilities. H. Najmabadi, H. Hu, Z. Fattahi, S. Abedini, M. Hosseini, F. Larti, R. Jazayeri, M. Oladnabi, M. Mohseni, T. Wienker, L. Musante, K. Kahrizi, H. H. Ropers. 116/12:00 KIRREL3, associated with intellectual disability and autism, functions as a presynaptic organizer and interacts with proteins with roles in neurodevelopment. A. K. Srivastava, Y. F. Liu, Y. Luo, A. Chaubey, H.-G. Kim, S. M. Sowell.
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Monday, October 20 10:30 AM–12:30 PM Concurrent Platform Session B
Monday, October 20 10:30 AM–12:30 PM (SESSION 31, continued)
31. Cardiovascular Genetics I: Single Gene Stories
124/12:00 FLNC is a novel gene for dilated cardiomyopathy in two families. R. L. Begay, A. Martin, S. L. Graw, D. B. Slavov, C. A. Tharp, M. Sweet, F. Brun, K. L. Jones, K. Gowan, D. Miani, G. Sinagra, L. Mestroni, D. M. Garrity, M. R. G. Taylor.
Room 20A, Upper Level, Convention Center Moderators: Pinar Bayrak-Toydemir, Univ. Utah, Salt Lake City; Eric Villard, INSERM/UPMC, Paris, France 118/10:30 Mutations in SGOL1 cause a novel cohesinopathy affecting heart and gut rhythm. N. Gosset, P. Chetaille, J.-M. Côté, C. Houde, C. Preuss, S. Burkharda, J. Castilloux, J. Piché, S. Leclerc, F. Wünnemann, M. Thilbault, C. Gagnon, A. Galli, E. Tuck, G.-R. X. Hickson, N. El Amine, F. LeDeist, E. Lemyre, P. De Santa Barbara, S. Faure, A. Jonzon, M. Cameron, H. Dietz, E. Gallo-McFarlane, W. Benson, Y. Shen, M. Jomphe, S.-J. M. Jones, J. Bakkers, G. Andelfinger.
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125/12:15 Genome-wide association study on secundum atrial septal defects. L. RodriguezMurillo, M. Parfenov, I. Peter, W. K. Chung, L. Mitchell, A. J. Agopian, C. Seidman, J. Seidman, B. D. Gelb, Pediatric Cardiac Genomics Consortium.
119/10:45 Functional characterization of long-QT syndrome- and sudden infant death-associated OLFML2B mutations. T. A. Plötz, C. J. Gloeckner, A. Kiper, M. Vennemann, M. Kartmann, M. Schell, H. Prucha, C. Congiu, Z. Schäfer, S. Hauck, I. Sinicina, E. Kremmer, B. M. Beckmann, F. Domingues, T. Meitinger, A. Peters, M. Cohen, S. Kääb, J. J. Schott, E. R. Behr, T. Bajanowski, S. Just, H. W. Mewes, M. Ueffing, N. Decher, M. Näbauer, A. Pfeufer. 120/11:00 EIF2AK4 (GCN2) mutations cause pulmonary veno-occlusive disease, a severe form of pulmonary hypertension. F. Soubrier, M. Eyries, D. Montani, B. Girerd, C. Perret, A. Leroy, C. Lonjou, N. Chelghoum, F. Coulet, D. Bonnet, P. Dorfmuller, E. Fadel, O. Sitbon, G. Simonneau, D.-A. Tregouet, M. Humbert. 121/11:15 Delineation and therapeutic implications of a modifier locus of aortic aneurysm in Marfan syndrome. A. Doyle, J. Doyle, K. Kent, L. Myers, N. Wilson, N. Huso, D. Bedja, M. Lindsay, J. PardoHabashi, B. Loeys, J. De Backer, A. De Paepe, H. Dietz.
123/11:45 Titin truncations: dissection of genotype and cardiac phenotype. A. Roberts, J. Ware, D. Herman, S. Schafer, J. Baksi, R. Buchan, R. Walsh, S. John, S. Wilkinson, L. Felkin, A. Bick, F. Mazzarotto, M. Radke, M. Gotthardt, P. Barton, N. Hubner, J. Seidman, C. Seidman, S. Cook.
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INVITED AND PLATFORM SESSIONS
122/11:30 Mutations in FOXE3/Foxe3 cause familial thoracic aortic aneurysms and dissections. S. Q. Kuang, O. Medina-Martinez2, D. C. Guo, L. Gong, E. S. Regalado, C. Boileau, G. Jondeau, S. K. Prakash, A. M. Peters, H. Pannu, M. J. Bamshad, J. Shendure, D. A. Nickerson, C. L. Reynolds, M. Jamrich, D. M. Milewicz.
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Monday, October 20 10:30 AM–12:30 PM Concurrent Platform Session B
Monday, October 20 10:30 AM–12:30 PM Concurrent Platform Session B
32. Molecular Insights into Mendelian Disorders
33. Genomic Alterations of Tumors
Room 20BC, Upper Level, Convention Center Moderators: Daryl Scott, Baylor Col Med, Houston; Ethylin W. Jabs, Mount Sinai Sch Med, New York
Room 20D, Upper Level, Convention Center Moderators: John McPherson, Ontario Inst Cancer Res, Toronto; Li Ding, Washington Univ in St. Louis
126/10:30 Clinical comparison of Kabuki syndrome with KMT2D and KDM6A mutations. N. Miyake, E. Koshimizu, N. Matsumoto, N. Niikawa.
134/10:30 Analysis of mutational landscape and genetic heterogeneity in liver cancer with whole genome sequencing. A. Fujimoto, M. Furuta, Y. Shiraishi, H. H. Nguyen, D. Shigemizu, K. Gotoh, Y. Kawakami, T. Nakamura, M. Ueno, S. Ariizumi, T. Shibata, H. Ojima, K. Shimada, S. Hayami, Y. Shigekawa, H. Aikata, K. Arihiro, H. Ohdan, S. Marubashi, T. Yamada, O. Ishikawa, M. Kubo, S. Hirano, M. Yamamoto, H. Yamaue, K. Chayama, S. Miyano, T. Tsunoda, H. Nakagawa.
127/10:45 Mutations in KMT2D, ZBTB24, and KMT2A in patients with clinical diagnosis of Kabuki syndrome lead to shared epigenetic abnormalities of target genes. N. Sobreira, L. Zhang, C. Ongaco, J. Romm, M. Baker, K. Doheny, D. Bertola, K. Chong, A. B. A. Perez, M. Melaragno, V. Meloni, C. Ladd-Acosta, D. Valle, H. T. Bjornsson. 128/11:00 Noonan syndrome due to RIT1 mutations: Further clinical and molecular delineation in 32 cases. A. Verloes, A. Caye, A. Dieux Coeslier, C. Baumann, C. Vincent-Delorme, P. Bouvagnet, A. David, D. Lacombe, P. Blanchet, B. Isidor, M. Rio, D. Héron, S. Sauvion, J. L. Alessandri, V. Drouin-Garraud, B. Doray, N. Pouvreau, A. Cavé. 129/11:15 Whole exome sequencing in 78 Noonan syndrome individuals identifies two new candidate genes. G. L. Yamamoto, R. Atique, M. Aguena, L. Testai, M. Buscarilli, A. Jorge, A. C. Pereira, A. Malaquias, C. A. Kim, M. R. Passos-Bueno, D. R. Bertola. 130/11:30 NSD1+/- DNA methylation (DNAm) signature: A novel functional diagnostic tool for Sotos syndrome. S. Choufani, C. Cytrynbaum, B. H. Y. Chung, A. L. Turinsky, D. Grafodatskaya, Y. A. Chen, H. M. Luk, I. F. M. Lo, S. T. S. Lam, D. J. Stavropoulos, B. Gibson, M. Reardon, M. Brudno, R. MendozaLondono, D. Chitayat, R. Weksberg. 131/11:45 A new neurodevelopmental-congenital heart disease syndrome caused by variants in a novel disease gene, TELO2. J. You, N. Sobreira, D. Gable, J. Jurgens, D. Valle, M. Armanios, J. Hoover Fong. 132/12:00 A novel variant in tenascin-X may be associated with an Ehlers Danlos phenotype in patients with congenital adrenal hyperplasia. R. Morissette, W. Chen, Z. Xu, J. Dreiling, M. Quezado, N. McDonnell, D. Merke. 133/12:15 The impairment of MAGMAS function in humans is responsible for a severe skeletal dysplasia. C. Mehawej, A. Delahodde, L. LegeaiMallet, V. Delague, N. Kaci, J.-P. Desvignes, Z. Kibar, J.-M. Capo-Chichi, E. Chouery, A. Munnich, V. Cormier-Daire, A. Mégarbané.
135/10:45 Abundant somatic L1 retrotransposition occurs early during colorectal and pancreatic tumorigenesis. S. Solyom, A. D. Ewing, A. Gacita, L. D. Wood, F. Ma, A. Makohon-Moore, D. Xing, R. Hruban, C. A. Iacobuzio-Donahue, S. J. Meltzer, B. Vogelstein, K. W. Kinzler, H. H. Kazazian. 136/11:00 Cis-regulatory drivers in colorectal cancer. H. Ongen, C. L. Andersen, J. B. Bramsen, B. Oster, M. H. Rasmussen, P. G. Ferreira, J. Sandoval, E. Vidal, N. Whiffin, I. Tomlinson, R. S. Houlson, M. Esteller, T. F. Orntoft, E. T. Dermitzakis. 137/11:15 Somatic mutations modulate ceRNA drivers of tumorigenesis. J. He, H.-S. Chiu, P. Sumazin, A. Califano. 138/11:30 Divergence between high metastatic tumor burden and low circulating tumor DNA concentration in metastasized breast cancer. M. Heidary, M. Auer, P. Ulz, E. Heitzer, E. Petru, C. Gasch, S. Riethdorf, O. Mauermann, I. Lafer, G. Pristauz, S. Lax, K. Pantel, J.B. Geigl, M.R. Speicher. 139/11:45 Extrachromosomal driver mutations in glioblastoma and low grade glioma. S. I. Nikolaev, F. Santoni, M. Garieri, P. Makrythanasis, E. Falconnet, M. Guipponi, A. Vannier, I. Radovanovic, F. Bena, K. Schaller, V. Dutoit, V. Clement-Schatlo, P.-Y. Dietrich, S. E. Antonarakis. 140/12:00 Automated tumor phylogeny reconstruction using multi-sample deep sequencing somatic variants. V. Popic, R. Salari, D. KashefHaghighi, D. Newburger, R. West, S. Batzoglou. 141/12:15 Development and validation of a ultrahigh depth FFPE targeted exome sequencing platform for routine cancer patient care. K. Chen, F. Meric-Bernstam, H. Zhao, Q. Zhang, N. Ezzeddine, L. Tang, P. Song, Y. Qi, Y. Mao, T. Chen, Z. Chong, W. Zhou, X. Zheng, A. Johnson, S. Kopetz, M. Davies, J. DeGroot, S. Moulder, K. Aldape, M. Routbort, R. Luthra, K. Shaw, J. Mendelsohn, G. Mills, A. Eterovic.
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INVITED AND PLATFORM SESSIONS
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Monday, October 20 10:30 AM–12:30 PM Concurrent Platform Session B
Monday, October 20 10:30 AM–12:30 PM Concurrent Platform Session B
34. Metabolic Disorders: New Diagnostics and Pathogenic Insights
35. Looking between the Streetlamps: Variant Phasing and Imputation
Room 28, Upper Level, Convention Center Moderators: Bruce Barshot, UC San Diego; Tina Cowan, Stanford Univ, Palo Alto
Room 29, Upper Level, Convention Center Moderators: Heather Cordell, Newcastle Univ, Newcastle, UK; Dale Nyholt, QIMR, Herston, Australia
142/10:30 Novel insights regarding the pathogenesis and treatment of pseudoxanthoma elasticum. S. G. Ziegler, C. R. Ferreira, A. B. Pinkerton, J. L. Millan, W. A. Gahl, H. C. Dietz.
150/10:30 A genotype likelihood based phasing and imputation method for massive sample sizes of low-coverage sequencing data. W. Kretzschmar, J. Marchini, The Haplotype Reference Consortium.
143/10:45 Decipher mitochondrial disorders using exome sequencing. R. Kopajtich, T. Haack, L. Kremer, C. Biagosch, B. Haberberger, T. Wieland, T. Schwarzmayr, P. Freisinger, T. Klopstock, J. Mayr, W. Sperl, M. Minczuk, T. M. Strom, T. Meitinger, H. Prokisch.
151/10:45 Imputation server: Next-generation genotype imputation service. C. Fuchsberger, L. Forer, S. Schönherr, F. Kronenberg, G. Abecasis.
144/11:00 Distinct clinical phenotypes in two unrelated patients with mutations in the TRNT1 gene encoding tRNA nucleotidyl transferase. F. Sasarman, I. Thiffault, W. Weraarpachai, S. Salomon, C. Maftei, J. Gauthier, N. Webb, O. Elpeleg, C. BrunelGuitton, G. Mitchell, E. A. Shoubridge.
153/11:15 Reducing pervasive false positive identical-by-descent segments detected by largescale pedigree analysis. E. Y. Durand, N. Eriksson, C. Y. McLean.
145/11:15 Mutation in the tRNA-modification enzyme GTPBP3 causes hypertrophic cardiomyopathy with abnormal respiratory chain assembly. M. Metodiev, Z. Assouline, M. Rio, F. Feillet, B. Mousson de Cameret, D. Chretien, A. Munnich, A. Rötig. 146/11:30 Application of cellular O-linked glycomics analysis for the diagnosis of protein glycosylation disorders. M. He, X. Li, M. Raihan, L. Tan, M. Bennett, W. Gahl, M. Davids, M. Kane, C. F. Boerkoel. 147/11:45 Metabolic diversion towards non-toxic metabolites for therapy of primary hyperoxaluria type 1. R. Castello, R. Borzone, P. Annunziata, P. Piccolo, N. Brunetti-Pierri.
152/11:00 Improved haplotype phasing using identity by descent. B. L. Browning, S. R. Browning.
154/11:30 Parente2: A fast and accurate method for detecting identity by descent. S. Bercovici, J. M. Rodriguez, L. Huang, S. Batzoglou. 155/11:45 Underdog: A fully-supervised phasing algorithm that learns from hundreds of thousands of samples and phases in minutes. K. Noto, Y. Wang, M. Barber, J. Granka, J. Byrnes, R. Curtis, N. Myres, C. Ball, K. Chahine. 156/12:00 Fast PCA of very large samples in linear time. K. J. Galinsky, P. Loh, G. Bhatia, S. Georgiev, S. Mukherjee, N. J. Patterson, A. L. Price. 157/12:15 Fast detection of IBD segments associated with quantitative traits in genome-wide association studies. Z. Wang, E. Kang, B. Han, S. Snir, E. Eskin.
149/12:15 A mouse model of cblA class isolated methylmalonic acidemia displays reduced survival, growth failure, renal disease and secondary mitochondrial dysfunction. M. W. Epping, C. X. Wang, P. M. Zerfas, G. Elliot, L. Li, I. Manoli, C. P. Venditti.
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INVITED AND PLATFORM SESSIONS
148/12:00 Transcriptome and microRNA profiling reveals deregulated microRNAs and mRNAs in the brain of neuronopathic Gaucher disease mice. Y. Sun, N. Dasgupta, Y. Xu, B. Liou, R. Li, Y. Peng, M. Pandey, S. Tinch, V. Inskeep, G. A. Grabowski.
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Monday, October 20 10:30 AM–12:30 PM Concurrent Platform Session B
Monday, October 20 4:30 PM–6:30 PM Concurrent Platform Session C
36. Chromatin, Gene Regulation and Expression
37. From Bytes To Phenotypes
Room 30, Upper Level, Convention Center Moderators: Reid Alisch, Univ Wisconsin, Madison; Tony Capra, Vanderbilt Univ, Nashville
Hall B1, Ground Level, Convention Center Moderators: Ada Hamosh, Johns Hopkins Univ, Baltimore; Steven E. Brenner, UC Berkeley
158/10:30 Large-scale profiling of sequence variation affecting transcription factor occupancy in vivo. M. T. Maurano, E. Haugen, R. Sandstrom, J. Vierstra, J. A. Stamatoyannopoulos.
166/4:30 Investigation of synthetic association in GWAS using pheWAS and exome sequencing. L. Bastarache, J. Bochenek, T. Edwards, Y. Xu, J. Pulley, E. Bowton, H. Mo, W. Wei, L. Wiley, D. Roden, J. Denny.
159/10:45 Consider the geneset: Why the transcripts used for variant annotation matter. A. Frankish, J.M. Mudge, R. Petryszak, G.R.S. Ritchie, A. Brazma, J.L. Harrow, GENCODE Consortium. 160/11:00 Multi-sample isoform quantification from RNA-seq. A. E. Byrnes, J. B. Maller, A. R. Sanders, J. Nemesh, T. Sullivan, H. H. Göring, J. Duan, W. Moy, E. I. Drigalenko, P. V. Gejman, B. M. Neale. 161/11:15 Characterizing the genetic architecture of gene expression variation in wild baboons via RNA sequencing. X. Zhou, J. Tung, S. Alberts, J. Altmann, M. Stephens, Y. Gilad. 162/11:30 Genetic control of chromatin in a human population. O. Delaneau, S. Waszak, A. Gschwind, H. Kilpinen, S. Raghav, R. Witwicki, A. Orioli, M. Wiederkehr, M. Gutierrez-Arcelus, N. Panousis, A. Yurovsky, T. Lappalainen, L. Romano-Palumbo, A. Planchon, D. Bielser, I. Padioleau, G. Udin, S. Thurnheer, D. Hacker, N. Hernandez, A. Reymond, B. Deplancke, E. Dermitzakis. 163/11:45 Chromatin accessibility profiling of developing cerebellar granule neurons reveals novel neuronal enhancers and regulatory scheme for ZIC transcription factors. C. L. Frank, F. Liu, R. Wijayatunge, L. Song, C. M. Vockley, A. Safi, G. E. Crawford, A. E. West. 164/12:00 Identification and characterization of enhancer and target gene pairs in mammalian genomes. Y.-C. Hwang, C.-F. Lin, O. Valladares, J. Malamon, Q. Zheng, B. Gregory, L.-S. Wang. 165/12:15 Domains of genome-wide gene expression dysregulation in Down syndrome. S. E. Antonarakis, A. Letourneau, F. A. Santoni, X. Bonilla, M. R. Sailani, D. Robyr, D. Gonzalez, J. Kind, C. Chevalier, R. Thurman, R. S. Sandstrom, Y. Hibaoui, M. Garieri, K. Popadin, E. Falconnet, M. Gagnebin, M. Gehrig, A. Vannier, M. Guipponi, E. Migliavacca, S. Deutsch, A. Feki, J. Stamatoyannopoulos, Y. Herault, B. van Steensel, R. Guigo, C. Borel.
167/4:45 Beware of circularity: A critical assessment of the state of the art in deleteriousness prediction of missense variants. C. A. Azencott, D. Grimm, J. W. Smoller, L. Duncan, K. Borgwardt. 168/5:00 Application of clinical text data for phenome-wide association studies. S. J. Hebbring, M. Rastegar-Mojarad, Z. Ye, J. Mayer, C. Jacobson, S. Lin. 169/5:15 The warped linear mixed model: Finding optimal phenotype transformations yields a substantial increase in signal in genetic analyses. N. Fusi, C. Lippert, N. Lawrence, O. Stegle. 170/5:30 PhenomeCentral: An integrated portal for sharing patient phenotype and genotype data for rare genetic disorders. M. Brudno, M. Girdea, O. J. Buske, S. Dumitriu, H. Trang, T. Hartley, D. Smedley, S. Kohler, P. N. Robinson, T. E. Dudding, H. Lochmuller, C. F. Boerkoel, W. A. Gahl, K. Boycott, Canadian CARE for RARE, NIH Undiagnosed Diseases Program, RDConnect, CARE for RARE Australia. 171/5:45 Facilitating the interpretation of rare pathogenic variation in a clinical setting with DECIPHER. G. J. Swaminathan, E. Bragin, E. A. Chatzimichali, S. Brent, A. P. Bevan, H. V. Firth, M. E. Hurles. 172/6:00 GeneMatcher: A matching tool for identification of individuals with mutations in the same gene. A. Hamosh, N. Sobreira, F. Schiettecatte, D. Valle. 173/6:15 Findings from the Critical Assessment of Genome Interpretation, a community experiment to evaluate phenotype prediction. S. E. Brenner, J. Moult, CAGI Participants.
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INVITED AND PLATFORM SESSIONS
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Monday, October 20 4:30 PM–6:30 PM Concurrent Platform Session C
Monday, October 20 4:30 PM–6:30 PM (SESSION 38, continued)
38. Rare Mutations, Well Done
181/6:15 Exploring the role of rare and lowfrequency coding variants in adult height using an ExomeChip. M. Graff, K. Sin lo, K. Stirrups, C. Medina-Gomez, T. Esko, N. L. Heard-Costa, A. E. Justice, T. W. Winkler, L. Southam, C. Shurmann, J. Czajkowski, Y. Lu, K. L. Young, T. L. Edwards, A. Giri, C. Lindgren, I. B. Borecki, K. E. North, M. McCarthy, J. N. Hirschhorn, P. Deloukas, F. Rivadeneira, T. M. Frayling, R. J. F. Loos, G. Lettre, for BBMRI, GOT2D, CHARGE, and GIANT Consortia.
Room 6AB, Upper Level, Convention Center Moderators: Doug Kiel, Harvard Univ, Boston; Gina Peloso, Mass Gen Hosp, Boston 174/4:30 The UG2G initiative: A study of disease susceptibility in 7000 individuals from Uganda using whole genome sequencing and genotyping approaches. D. Gurdasani, T. Carstensen, S. Fatumo, C. S. Franklin, E. Wheeler, I. Tachmazidou, J. Huang, A. Karabarinde, G. Asiki. 175/4:45 Long-range haplotype mapping in Hispanic/Latinos reveals loci for short stature. G. Belbin, D. Ruderfer, K. Slivinski, M.C. Yee, J. Jeff, O. Gottesman, E.A. Stahl, R.J.F. Loos, E.P. Bottinger, E.E. Kenny. 176/5:00 A haplotype reference panel of over 31,000 individuals and next-generation imputation methods. S. Das, on behalf of Haplotype Reference Consortium. 177/5:15 A rare variant local haplotype sharing method with application to admixed populations. S. Hooker, G. T. Wang, B. Li, Y. Guan, S. M. Leal. 178/5:30 Rare mutations associating with serum creatinine and chronic kidney disease. G. Sveinbjornsson, E. Mikaelsdottir, R. Palsson, O. S. Indridason, H. Holm, A. Jonasdottir, A. Helgason, S. Sigurdsson, A. Jonasdottir, A. Sigurdsson, G. I. Eyjolfsson, O. Sigurdardottir, O. T. Magnusson, A. Kong, G. Masson, P. Sulem, I. Olafsson, U. Thorsteinsdottir, D. F. Gudbjartsson, K. Stefansson. 179/5:45 Rare coding variants in collagen genes increase risk of adolescent idiopathic scoliosis. G. Haller, D. Alvarado, J. Buchan, K. McCall, P. Yang, C. Cruchaga, M. Harms, A. Goate, M. Willing, E. Baschal, N. Miller, C. Wise, M. Dobbs, C. Gurnett.
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INVITED AND PLATFORM SESSIONS
180/6:00 Rare coding variants are associated with osteoporotic fracture: A large-scale exome-chip analysis of 44,130 adult Caucasian men and women in CHARGE and GEFOS consortia. Y. Hsu, K. Estrada, P. Leo, A. Teumer, C. Liu, C. Medina-Gomez, H. Zheng, R. Minster, L.P. Lyytikäinen, R. Pengelly, R. Cruz Guerrero, L. Oei, M. Claussnitzer, M. Kahonen, C. Cooper, A. Hannemann, D. Karasik, A. Uitterlinden, L.A. Cupples, J.A. Riancho Moral, J. Holloway, E. Duncan, T. Lehtimäki, T. Harris, H. Wallaschofski, B. Richards, F. Rivadeneira, M. Brown, D. Chasman, D. Kiel.
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Monday, October 20 4:30 PM–6:30 PM Concurrent Platform Session C
Monday, October 20 4:30 PM–6:30 PM (SESSION 39, continued)
39. Cardiovascular Genetics II: Genetic Discovery and Characterization
188/6:00 Pathologically different than coronary artery disease, myocardial infarction has a minimal heritable component. B. Horne, S. Knight.
Room 6CF, Upper Level, Convention Center Moderators: Alex Reiner, Univ Washington, Seattle; Hooman Allayee, Univ Southern California, Los Angeles 182/4:30 Increased frequency of de novo copy number variations in congenital heart disease by integrative analysis of SNP array and exome sequence data. J. T. Glessner, A. G. Bick, K. Ito, J. Homsy, L. Rodriguez-Murillo, M. Fromer, E. Mazaika, B. Vardarajan, M. Italia, J. Leipzig, S. R. DePalma, R. Golhar, S. J. Sanders, B. Yamrom, M. Ronemus, I. Iossifov, A. J. Willsey, M. W. State, J. R. Kaltman, P. S. White, Y. Shen, D. Warburton, M. Brueckner, C. Seidman, E. Goldmuntz, B. D. Gelb, R. Lifton, J. Seidman, W. K. Chung, H. Hakonarson.
189/6:15 Is type 2 diabetes a causal risk factor for coronary artery disease? Multivariate Mendelian randomization to test causal relationships among cardiometabolic traits. R. Do, M. Daly, B. Neale, S. Kathiresan.
183/4:45 Context-specific eQTLs implicate differential genomic regulatory mechanisms in obese and lean Finns. A. Ko, R. C. Cantor, E. Nikkola, M. Alvarez, B. Pasaniuc, K. L. Mohlke, M. Boehnke, F. S. Collins, J. Kuusisto, M. Laakso, P. Pajukanta. 184/5:00 Use of low read depth whole genome sequence data to examine the genomic architecture of commonly measured lipid subfractions: The UK10K study. J. Huang, J. Min, V. Iotchkova, M. Mangino, A. Gaye, M. Kleber, G. Malerba, M. Cocca, T. Michela, I. Tachmazidou, H. Chheda, A. Manning, A. Wood, R. Scott, T. Gaunt, W. Zhang, F. Rivadeneira, N. Soranzo, N. Timpson, UK10K Consortium Cohorts Group. 185/5:15 Population-specific imputations identify a deleterious coding variant in ABCA6 associated with cholesterol levels: The genome of the Netherlands. C. M. Van Duijn, E. M. van Leeuwen, M. A. Swertz, D. I. Boomsma, P. E. Slagboom, G. B. van Ommen, C. Wijmenga, P. I. W. de Bakker, on behalf of CHARGE Lipids WG and Genome of the Netherlands Consortium. 186/5:30 Null alleles at NPC1L1, the therapeutic target for the LDL-lowering drug ezetimibe, and protection from coronary heart disease. N. Stitziel, S. Kathiresan, Myocardial Infarction Genetics Consortium. 187/5:45 Trans-ethnic genome-wide association study identifies 15 new genetic loci influencing blood pressure traits and implicates a role for DNA methylation: the International Genetics of Blood Pressure Study. M. Loh, F. Takeuchi, N. Verweij, X. Wang, W. Zhang, International Genetics of Blood Pressure Study.
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INVITED AND PLATFORM SESSIONS
77
Monday, October 20 4:30 PM–6:30 PM Concurrent Platform Session C
Monday, October 20 4:30 PM–6:30 PM Concurrent Platform Session C
40. Genetics of Complex Neuropsychiatric Disorders
41. Statistical Methods for Population Based Studies
Room 6DE, Upper Level, Convention Center Moderators: Minerva Carrasquillo, Mayo Clin, Jacksonville, FL; Tao Wang, Johns Hopkins Univ, Baltimore
Room 20A, Upper Level, Convention Center Moderators: Peter N. Robinson, ChariteUniversitatsmedizin, Berlin, Germany; John Witte, UC San Francisco
190/4:30 Vertical transmission of autism spectrum disorder. N. Risch, L. Shen, Y. Qian, M. Massolo, L. Croen.
198/4:30 Leveraging genetic variation from over 55,000 exomes to explore patterns of functional constraint on human protein-coding genes. K. Samocha, M. Lek, D. MacArthur, M. Daly, Exome Aggregation Consortium.
191/4:45 Epidemiological and genomic studies suggest a significant effect of comorbidity of intellectual disability towards estimates of autism prevalence. S. Girirajan, J. A. Rosenfeld, A. Polyak. 192/5:00 Partial deletion of the monoamine oxidase A (MAOA) gene in a three-generation family with two severely affected intellectually disabled males and a healthy female carrier. N. de Leeuw, M. I. Schouten, R. van Beek, R. Pfundt, M. M. Verbeek, H. G. Brunner. 193/5:15 A Drosophila model for 16p11.2 deletion shows differential sensitivity to gene dosage. J. Iyer, L. Pizzo, T. Le, P. Patel, L. Thomas, K. Vadodaria, S. Girirajan. 194/5:30 The discovery of integrated gene networks for autism. O. Penn, F. Hormozdiari, E. Borenstein, E. E. Eichler, SSC Sequencing Consortium. 195/5:45 Transcriptome sequencing of human aging brain tissue uncovers widespread genetic effects on splicing alternations in Alzheimer’s disease. T. Raj, J. Xu, C. McCabe, J. A. Schneider, N. Pochet, D. A. Bennett, P. L. De Jager.
200/5:00 Efficient Bayesian mixed model analysis increases association power in large cohorts. P. Loh, G. Tucker, B. Bulik-Sullivan, B. J. Vilhjalmsson, H. K. Finucane, K. Galinsky, D. I. Chasman, B. M. Neale, B. Berger, N. Patterson, A. L. Price. 201/5:15 Recent demography and natural selection hamper power of rare variant association tests. L. H. Uricchio, J. S. Witte, R. D. Hernandez. 202/5:30 A statistical framework to leverage broad metabolite data in elucidating the associations between genetics and disease. C. Churchhouse, Slim Initiative in Genomic Medicine for the Americas (SIGMA) Type 2 Diabetes Consortium. 203/5:45 Prioritizing functional variants in genetic association studies. S. Sengupta, X. Wen, G. Abecasis. 204/6:00 A practical guide to study design, sample size requirements and statistical analyses methods for rare variant disease association studies. S. M. Leal, G. T. Wang, D. Zhang, Z. He, H. Dai, B. Li. 205/6:15 A logistic mixed model approach to obtain a reduced model score for KBAC to adjust for population structure and relatedness between samples. G. Linse Peterson, J. Grover, B. Vilhjalmsson, G. Christensen, A. Scherer.
197/6:15 Low-frequency variant imputation identifies rare variant candidate loci in a genomewide association study of late-onset Alzheimer disease. K. L. Hamilton, B. W. Kunkle, A. C. Naj, W. R. Perry, A. Partch, O. Valladeres, L. S. Wang, G. Jun, J. Chung, M. A. Schmidt, G. W. Beecham, E. R. Martin, R. P. Mayeux, J. L. Haines, L. A. Farrer, G. D. Schellenberg, Alzheimer’s Disease Genetics Consortium.
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196/6:00 Exome array analysis of 30,582 individuals confirms late-onset Alzheimer’s disease (LOAD) risk from common variants and identifies novel rare LOAD susceptibility variants: The International Genomics of Alzheimer’s Project. A. C. Naj, S. J. van der Lee, M. Vronskaya, R. Sims, J. Jakobsdottir, C. van Duijn, L.-S. Wang, P. Amouyel, S. Seshadri, J. Williams, G. Schellenberg, International Genomics of Alzheimer’s Project (IGAP).
199/4:45 Unveiling the genetic architectures of rare coding variants in blood lipids levels via large scale meta-analysis. D. Liu, on behalf of Global Lipids Genetics Consortium.
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Monday, October 20 4:30 PM–6:30 PM Concurrent Platform Session C
Monday, October 20 4:30 PM–6:30 PM Concurrent Platform Session C
42. Genome Variation and its Impact on Autism and Brain Development
43. ELSI Issues in Genetics
Room 20BC, Upper Level, Convention Center Moderators: Sébastien Jacqemont, CHUV, Lausanne, Switzerland; Xander Nuttle, Univ Washington, Seattle
Room 20D, Upper Level, Convention Center Moderators: James O’Leary, Genetic Alliance, District of Columbia; Jennifer McCormick, Mayo Clin, Rochester
206/4:30 A chromosome imbalance map of the human genome. M. Zarrei, J. R. MacDonald, R. Ziman, G. Pellecchia, D. J. Stavropoulos, D. Merico, S. W. Scherer.
214/4:30 The expansion of NIH’s genomic data sharing policy. E. Luetkemeier, K. Langlais, R. Baker, C. Fomous, T. Paine, D. Paltoo.
207/4:45 Detection of known genomic regions and intragenic copy-number changes by an expanded exon-targeted array with comprehensive coverage of genes implicated in autism spectrum disorders and intellectual disability. S. W. Cheung, P. Liu, T. Gambin, S. Gu, P. Hixson, C. Shaw, W. Bi, A. Breman, J. Smith, M. Haeri, A. N. Pursley, S. Lalani, C. Bacino, A. L. Beaudet, J. R. Lupski, P. Stankiewicz, A. Patel.
215/4:45 Data sharing and dbGaP: A survey of practices and opinions among human geneticists. D. Kaufman, J. Bollinger, R. Dvoskin.
208/5:00 Identification of pathogenic CNVs in a simplex autism cohort and measurement of effect size on cognitive, adaptive, and social function. A. E. Hare, D. Moreno De Luca, K. B. Boomer, S. J. Sanders, M. W. State, M. Benedetti, A. L. Beaudet, E. H. Cook, D. M. Martin, D. H. Ledbetter, C. L. Martin. 209/5:15 Autism ten thousand genomes (AUT10K) project: A roadmap for the complete genetic landscape of autism spectrum disorder. S. W. Scherer, R. K. C. Yuen, H. Cao, X. Tong, D. Cao, Y. Sun, M. Li, W. Chen, X. Jin, J. L. Howe, C. R. Marshall, P. Szatmari, D. Merico, R. H. Ring. 210/5:30 The identification of novel autism pathogenicity genes and their associated phenotypes. H. A. F. Stessman, B. J. O’Roak, E. A. Boyle, K. T. Witherspoon, B. Martin, C. Lee, L. Vives, C. Baker, J. Hiatt, D. A. Nickerson, R. Bernier, J. Shendure, E. E. Eichler. 211/5:45 The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity. S. Jacquemont, A. M. Maillard, A. Ruef, F. Pizzagalli, E. Migliavacca, L. Hippolyte, S. Adaszewski, J. Dukart, C. Ferrari, P. Conus, K. Männik, M. Zazhytska, V. Siffredi, P. Maeder, Z. Kutalik, F. Kherif, N. Hadjikhani, J. S. Beckmann, A. Reymond, B. Draganski, 16p11.2 European Consortium.
216/5:00 Experience with obtaining informed consent for genomic sequencing: Developing recommendations for best practices. B. A. Bernhardt, A. N. Tomlinson, D. Lautenbach, M. I. Roche, S. R. Scollon, D. Skinner. 217/5:15 Developing a patient facing genome sequencing report: Results of key informant interviews. J. L. Williams, A. Fan, H. Stuckey, D. Zallen, J. Green, M. Bonhag, L. Feldman, M. Segal, M. S. Williams. 218/5:30 Use of My46 to return individual research results to families of children with Joubert syndrome. S. M. Jamal, A. G. Shankar, J. Dempsey, C. Isabella, J. H. Yu, J. Crouch, T. M. Harrell, M. J. Bamshad, D. Doherty, H. K. Tabor. 219/5:45 Patient preferences for the return of individual research results derived from pediatric biobank samples. S. Savage, K. Christensen, N. Huntington, E. Weitzman, S. Ziniel, P. Bacon, C. Cacioppo, R. Green, I. Holm. 220/6:00 Weapons, boxes, and credit reports: Metaphorical language in discussions of receiving exome and whole genome sequencing results. S. C. Nelson, J. Crouch, M. J. Bamshad, H. K. Tabor, J. Yu. 221/6:15 Clinical integration of next-generation sequencing: A policy analysis. A. L. McGuire, D. J. Kaufman, G. H. Javitt, P. A. Deverka, D. Messner, R. Cook-Deegan, M. A. Curnutte, J. Bollinger, R. Dvoskin, S. Chandrasekharan, B. J. Evans.
212/6:00 Distinct properties of de novo mutations from whole genome sequencing of 50 patientparent trios. M. Pinelli, B. Tan, M. van de Vorst, R. Leach, R. Klein, L. E. L. Vissers, H. G. Brunner, J. A. Veltman, A. Hoischen, C. Gilissen. 213/6:15 Human frontal cortex is enriched for somatic variations under physiological oxidative stress compared to the corpus callosum from same individuals. A. Mukhopadhyay, A. Sharma, R. Kumari, B. Mehani, A. H. Ansari, B. Varma, R. Rehman, B. K. Desiraju, U. Mabalirajan, A. Agrawal. Taking photographs or sound/audio recordings of speakers and slides in all meeting rooms is strictly prohibited. You agreed to this policy when registering for the meeting. Thank you for your cooperation.
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Monday, October 20 4:30 PM–6:30 PM Concurrent Platform Session C
Monday, October 20 4:30 PM–6:30 PM Concurrent Platform Session C
44. Prenatal, Perinatal, and Reproductive Genetics
45. Advances in Defining the Molecular Mechanisms of Mendelian Disorders
Room 28, Upper Level, Convention Center Moderators: Lee P. Shulman, Northwestern Univ, Chicago; Nancy Rose, Intermountain Med Ctr, Salt Lake City 222/4:30 Discovery and in vivo experimental validation of a novel, non-meiotic pathway governing production of spermatozoa and oocytes in human. A. S. Lee, N. Huang, Y. Yin, R. A. Hess, L. Ma, P. N. Schlegel, A. M. Lopes, D. T. Carrell, Z. Hu, D. F. Conrad. 223/4:45 Complex dynamics of meiotic recombination initiation in laboratory mouse strains. K. Brick, F. Smagulova, R. D. Camerini-Otero, G. Petukhova. 224/5:00 Bringing homologs together: Sex- and species-specific differences in synapsis. J. Gruhn, C. Rubio, P. A. Hunt, T. Hassold. 225/5:15 Targeted resequencing identifies mutant selfish clones within the testis and unifies the concepts of somatic and germline mutation. G. J. Maher, E. Giannoulatou, S. J. McGowan, A. Goriely, A. O. M. Wilkie. 226/5:30 Prevalence of pathogenic copy number variants for specific ultrasound detected structural abnormalities using prenatal chromosomal microarray in a multi-center cohort. T. Leung, O. Chan, S.W. Cheung, Y. Kwok, K.W. Choy. 227/5:45 Comprehensive genetic analysis of pregnancy loss by chromosomal microarrays: Outcomes, benefits and challenges. T. Sahoo, M. Strecker, A. Mehta, N. Dzidic, R. W. Tyson, K. Hovanes. 228/6:00 Genomic augmentation of newborn screening. B. Solomon, D. Bodian, R. Iyer, K. Huddleston, R. Hastak, A. Chu, A. Black, G. Eley, J. Vockley, J. Niederhuber.
230/4:30 Mutations in RPL17 expand the molecular basis of Diamond-Blackfan anemia and guide insights into unique biochemical signatures underscoring ribosomopathies. E. E. Davis, D. W. Reid, J. Liang, J. R. Willer, L. Fievet, Z. A. Bhuiyan, A. L. Wall, J. S. Beckmann, N. Katsanis, C. V. Nicchitta, F. Fellmann. 231/4:45 Digenic inheritance in Alport syndrome. M. Mencarelli, L. Heidet, H. Storey, M. van Geel, B. Knebelmann, C. Fallerini, L. Dosa, N. Miglietti, M. F. Antonucci, F. Cetta, A. van den Wijngaard, S. Yau, F. Mari, M. Bruttini, F. Ariani, K. Dahan, B. Smeets, C. Antignac, F. Flinter, A. Renieri. 232/5:00 PCBD1 and diabetes: A novel player with direct implications for therapy. D. Simaite, J. Kofent, M. Gong, F. Rüschendorf, S. Jia, P. Arn, K. Bentler, C. Ellaway, P. Kühnen, G. F. Hoffmann, N. Blau, F. M. Spagnoli, N. Hübner, K. Raile. 233/5:15 The Ankrd11 mutation in the Yoda mouse mirrors the human gene defect and provides new insights into KBG syndrome. K. Walz, D. Cohen, P. M. Neilsen, J. Foster II, F. Brancati, K. Demir, R. Fisher, M. Moffat, N. E. Verbeek, K. Bjorgo, A. Lo-Castro, P. Curatolo, G. Novelli, C. Abad, C. Lei, O. Diaz-Horta, J. I. Young, D. F. Callen, M. Tekin. 234/5:30 Defects in TAPT1, involved in axial skeletal patterning, cause a complex lethal recessive disorder of skeletal development. S. Symoens, A. Barnes, C. Ghistelinck, F. Malfait, K. Vleminckx, B. Guillemyn, D. Syx, W. Steyaert, E. Parthoens, M. Biervliet, G. Gillessen-Kaesbach, J. De Backer, A. Willaert, H. P. Bächinger, A. De Paepe, J. C. Marini, P. J. Coucke. 235/5:45 Mutations in KITLG, encoding KIT ligand, cause unilateral hearing loss. C. Zazo Seco, L. S. Serrao de Castro, J. W. van Nierop, M. Schraders, E. J. Verver, M. Morín, N. Maiwald, M. Wesdrop, H. Venselaar, L. Spruijt, J. Oostrik, J. Schoots, L. H. Hoefsloot, J. H. Jansen, G. Huls, M. M. Van Rossum, H. P. Kunst, M. A. Moreno-Pelayo, H. Kremer, BaylorHopkins Center for Mendelian Genomics. 236/6:00 Molecular pathogenesis of tuberous sclerosis complex (TSC) in patients with no mutation identified in TSC1 or TSC2. M. E. Tyburczy, Y. Chekaluk, K. Dies, M. Sahin, J. Glass, D. Franz, S. Camposano, E. Thiele, D. Kwiatkowski.
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INVITED AND PLATFORM SESSIONS
229/6:15 CETN1 variations cause idiopathic male infertility. D. V. S. Sudhakar, A. Khattri, R. Phanindranath, A. K. Sharma, J. Reshma Devi, M. Deenadayal, N. J. Gupta, S. Prasad, S. Yobendra, K. Thangaraj.
Room 29, Upper Level, Convention Center Moderators: Megan Dennis, Univ Washington, Seattle; Ken Inoue, NCNP, Kodaira, Japan
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Monday, October 20 4:30 PM–6:30 PM (SESSION 45, continued)
Monday, October 20 4:30 PM–6:30 PM Concurrent Platform Session C
237/6:15 RAB11FIP1 interacts with the BLOC-1 complex to retrieve melanogenic proteins from the recycling pathway and a dominant negative mutation in RAB11FIP1 causes Hermanksy-Pudlak syndrome type 10. A. R. Cullinane, M. A. Merideth, M. B. Datiles, J. A. Curry, N. F. Hansen, J. K. Teer, J. G. White, J. C. Mullikin, M. Huizing, W. A. Gahl.
46. Epigenomics of Normal Populations and Disease States Room 30, Upper Level, Convention Center Moderators: Anshul Kundaje, Stanford Univ, Stanford; Carolyn Brown, Univ of British Columbia, Vancouver 238/4:30 Genetic basis and functional consequences of chromatin state variability across individuals. F. Grubert, J. Zaugg, M. Kasowski, O. Ursu, D. Spacek, A. Martin, L. Steinmetz, A. Kundaje, M. Snyder. 239/4:45 Integration of 111 reference human epigenomes helps interpret the molecular basis of complex traits and disease. M. Kellis, Roadmap Epigenomics Consortium. 240/5:00 An imprinting map of the human placenta based on the application of a novel population genetics approach to RNAseq data. C. T. Watson, O. Rodriguez, B. Jadhav, N. Azam, D. J. Ho, K. Cheung, D. Sachs, K. Hao, R. J. Wright, E. E. Schadt, A. J. Sharp. 241/5:15 Tissue-specific patterns of imprinting revealed by analysis of monoallelic expression in human populations. T. Lappalainen, Y. Baran, E. Tsang, T. Tukiainen, M. A. Rivas, M. Pirinen, M. Gutierrez-Arcelus, GTEx Consortium, D. G. MacArthur, S. B. Montgomery, N. A. Zaitlen. 242/5:30 Population-scale and single-cell RNA sequencing provides insight into X chromosome inactivation. T. Tukiainen, A. Kirby, T. Lappalainen, A.-C. Villani, R. Satija, J. Maller, GTEx Project Consortium, A. Regev, N. Hacohen, D. G. MacArthur. 243/5:45 Cis-methylation quantitative trait loci mapping of chromosome 15q25.1 in human brain reveals novel genetic associations with nicotine dependence. D. B. Hancock, J. C. Wang, N. C. Gaddis, N. L. Saccone, J. A. Stitzel, A. Goate, L. J. Bierut, E. O. Johnson. 244/6:00 Joint methylome- and genome-wide association studies in blood and brain identifies new disease mechanisms for schizophrenia. E. J. C. G. Van den Oord, A. Shabalin, G. Kumar, S. Clark, J. L. McClay, L. Y. Xie, R. Chan, Swedish Schizophrenia Consort., V. Vladimirov, C. Hultman, P. F. Sullivan, P. K. E. Magnusson, K. A. Aberg. 245/6:15 Whole genome bisulfite sequencing of acute lymphoblastic leukemia cells. P. Wahlberg, A. Lundmark, J. Nordlund, A. Raine, S. Busche, E. Forestier, T. Pastinen, G. Lönnerholm, A.-C. Syvänen.
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Tuesday, October 21 8:00 AM–8:25 AM
Tuesday, October 21 8:30 AM–10:00 AM
47. Plenary Abstracts Featured Presentation III
48. ASHG/ESHG Building Bridges Session:Towards Finding Global Agreement on Topical Discussions in Genetics: Evolving Uncertainties in Genomic Medicine
Hall B1, Ground Level, Convention Center Moderator: John Novembre, Univ Chicago 246/8:00 Completion of the 1000 Genomes Project: Results, lessons learned and open questions. G. Abecasis, 1000 Genomes Project.
Hall B1, Ground Level, Convention Center Moderator: Barbara Biesecker, NHGRI/NIH Introduction: Cynthia Morton, ASHG President Uncertainty is an inherent part of genomic medicine. Uncertainty pervades the associations of genes with phenotypes, the pathogenicity of variants, the role of modifiers and environment in gene penetrance and expressivity, the natural history of genetic diseases, and the efficacy and iatrogenic effects of treatments for these diseases. Geneticists working in the laboratory, medical geneticists, and genetic counselors interpreting penetrance and data on prevention or treatment confront these uncertainties daily. The introduction of genome sequencing has increased the breadth, depth, and dimensions of these uncertainties to unprecedented levels. How these uncertainties are characterized, communicated, and managed by geneticists, health care providers, and patients is critical to the integrity of the science, the validity of clinical practice guidelines on the use of genomic information, and the adequacy of patients’ understanding of the value and limitations of genomic information. Perceptions of uncertainty among geneticists affect how they interpret information returned to patients. Similarly, perceptions of uncertainty among practitioners affect how they obtain informed consent for sequencing, communicate results to patients, and formulate medical recommendations. Ultimately, perceptions of uncertainty affect how patients make informed decisions to undergo sequencing, learn results, and act on them. As such, there is a critical need for further research to conceptualize the varieties of uncertainties in genome sequencing, and to understand how laboratory scientists, genetics providers, and patients perceive, respond to, and manage these uncertainties. History of uncertainty in genomic medicine. Reed Pyeritz, Univ. of Pennsylvania
Conceptualizing and communicating uncertainty. Paul Han, Maine Med. Ctr. Res. Inst. Uncertainties in consenting to participate in sequencing studies and receive results. Barbara Biesecker, NIH Managing the ambiguity and complexity of genome sequencing. Aad Tibben, Leiden Univ. Med. Ctr.
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A taxonomy of uncertainty for clinical genomics. Les Biesecker, NIH
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Tuesday, October 21 8:30 AM–10:00 AM (SESSION 48, continued)
Tuesday, October 21 10:30 AM–12:30 PM Concurrent Platform Session D
This “Building Bridges” session is the second in a continuing series conducted in conjunction with the European Society of Human Genetics. The first session, held in Milan in June 2014, focused on incidental findings in WGS and WES.
49. Detailing the Parts List Using Genomic Studies Hall B1, Ground Level, Convention Center Moderators: Meredith L. Carpenter, Stanford Univ; Kristin Ardlie, Broad Inst, Cambridge 247/10:30 Inferring the functional effects of nonsynonymous variants using experimental results from deep mutational scanning. R. J. Hause, V. E. Gray, J. Shendure, D. M. Fowler. 248/10:45 Context-specific regulatory networks identify key regulators of complex traits. G. Quon, D. Marbach, S. Feizi, M. Grzadkowski, M. Kellis. 249/11:00 Allele-specific alternative splicing in diploid human genomes. N. Raghupathy, K. Choi, S. C. Munger, G. A. Churchill. 250/11:15 Developing a high-throughput CRISPRbased assay for saturation mutagenesis of human genes. M. L. Carpenter, C. Lee, N. Hammond, A. Li, A. Adams, C. D. Bustamante, M. C. Bassik. 251/11:30 Transcriptome-wide nuclease-mediated protein footprinting to identify RNA-protein interaction sites. I. Silverman, F. Li, Q. Zheng, B. Gregory. 252/11:45 Epigenome imputation leads to higherquality datasets and helps improve GWAS interpretation. J. Ernst, A. K. Sarkar, L. D. Ward, M. Kellis. 253/12:00 Conservation of mammalian transregulatory circuitry under high cis-regulatory turnover. A. B. Stergachis, S. Neph, R. Sandstrom, E. Haugen, A. Reynolds, M. Zhang, R. Byron, T. Canfield, S. Stelhing-Sun, K. Lee, R. Thurman, S. Vong, D. Bates, F. Neri, M. Diegel, E. Giste, D. Dunn, S. Hansen, A. Johnson, P. Sabo, M. Wilken, T. Reh, P. Treuting, R. Kaul, M. Groudine, M. Bender, E. Borenstein, J. Stamatoyannopoulos. 254/12:15 A regulatory DNA association study between autoimmune disease risk and variation in regulatory regions that are highly unique to adaptive immune cells. A. Madar, D. Chang, A. J. Sams, F. Gao, Y. Waldman, C. Van Hout, A. G. Clark, A. Keinan.
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INVITED AND PLATFORM SESSIONS
Tuesday, October 21 10:30 AM–12:30 PM Concurrent Platform Session D
Tuesday, October 21 10:30 AM–12:30 PM Concurrent Platform Session D
50. Statistical Methods for Multigene, Gene Interaction and Pathway Analyses
51. Neurogenetics: From Gene to Mechanism (II)
Room 6AB, Upper Level, Convention Center Moderators: Marcella Devoto, CHOP, Philadelphia; David Conti, USC, Los Angeles 255/10:30 Novel kernel methods for detecting gene-environment interaction. K. A. Broadaway, R. Duncan, L. M. Almli, K. J. Ressler, B. Bradley, M. P. Epstein. 256/10:45 Gene-environment dependence creates spurious gene-environment interaction. F. Dudbridge, O. Fletcher. 257/11:00 Discovery of gene-environment and epistatic interactions affecting gene expression in the TwinsUK cohort via association mapping of variance and monozygotic twin discordance. A. Brown, A. Buil, A. Viñuela, M. Davies, K. Small, T. Spector, E. Dermitzakis, R. Durbin. 258/11:15 A statistical approach to distinguish genetic pleiotropy from clinical heterogeneity: Application to autoimmune diseases. B. Han, D. Diogo, E. A. Stahl, S. Eyre, S. Rantapää-Dahlqvist, J. Martin, T. W. Huizinga, P. K. Gregersen, J. Worthington, L. Klareskog, P. I. W. de Bakker, S. Raychaudhuri. 259/11:30 Analysis of variants obtained through whole-genome sequencing provides an alternative explanation to apparent epistasis. A. R. Wood, M. A. Tuke, M. Nalls, D. Hernandez, S. Bandinelli, A. Singleton, D. Melzer, L. Ferrucci, T. M. Frayling, M. N. Weedon. 260/11:45 A joint testing framework uncovers paradoxical SNPs, improves power, and identifies new sources of missing heritability in association studies. B. C. Brown, N. A. Patsopoulos, A. Price, L. Pachter, N. Zaitlen. 261/12:00 Valid permutation testing in the presence of polygenic variation. M. Abney.
Room 6CF, Upper Level, Convention Center Moderators: Mustafa Tekin, Univ Miami; Alessandra Renieri, Univ Siena, Italy 263/10:30 Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects. J. Melki, J. Maluenda, A. Camus, L. Fontenas, K. Dieterich, F. Nolent, N. Monnier, P. Latour, J. Lunardi, M. Bayes, PS. Jouk, S. Sternberg, J. Warszawski, I. Gut, M. Gonzales, M. Tawk, A. Laquérriere. 264/10:45 A mutation in TMTC2 reveals a new mechanism causing sensorineural hearing loss. M. Olivier, A. Indap, Y. Zhou, J. W. Kent Jr., E. King, C. B. Erbe, R. Cole, J. Littrell, K. Merath, S. Mleziva, J. Jensen, L. S. Burg, F. Rüschendorf, J. E. Kerschner, G. Marth, N. Hübner, H. H. H. Göring, D. F. Friedland, W.-M. Kwok, C. L. Runge. 265/11:00 Understanding pathogenesis of lissencephaly with patient-derived induced pluripotent stem cells. M. Bershteyn, A. Kriegstein, A. Wynshaw-Boris. 266/11:15 Hypomorphic PCNA mutation underlies a novel human DNA repair disorder. E. L. Baple, H. Chambers, H. E. Cross, H. Fawcett, Y. Nakazawa, B. A. Chioza, G. V. Harlalka, S. Mansour, A. SreekantanNair, M. A. Patton, M. Muggenthaler, P. Rich, K. Wagner, R. Coblentz, C. K. Stein, .J. I. Last, A. M. R. Taylor, A. P. Jackson, T. Ogi, A. R. Lehmann, C. M. Green, A. H. Crosby. 267/11:30 Profound neuropathy target esterase impairment results in Oliver-McFarlane syndrome. R. B. Hufnagel, G. Arno, N. D. Hein, J. Hersheson, L. A. Krueger, T. J. Jaworek, L. C. Gregory, S. Hull, V. Plagnol, C. M. Willen, T. M. Morgan, C. A. Prows, R. S. Hegde, S. Riazuddin, G. A. Grabowski, R. J. Richardson, J. P. Martinez-Barbera, T. Huang, M. T. Dattani, R. A. Sisk, H. Houlden, J. K. Fink, A. T. Moore, Z. M. Ahmed. 268/11:45 A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement. V. Paquis, S. Bannwarth, S. Ait-El-Mkadem, A. Chaussenot, E. C. Genin, S. LacasGervais, K. Fragaki, L. Berg-Alonso, Y. Kageyama, V. Serre, D. G. Moore, A. Verschueren, C. Rouzier, I. Le Ber, G. Augé, C. Cochaud, F. Lespinasse, K. N’Guyen, A. de Septenville, A. Brice, P. Yu-Wai-Man, H. Sesaki, J. Pouget.
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262/12:15 Sparse Bayesian latent factor decompositions for identifying trans-eQTLs. V. Hore, J. Marchini.
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Tuesday, October 21 10:30 am–12:30 pm (SESSION 51, continued)
Tuesday, October 21 10:30 AM–12:30 PM Concurrent Platform Session D
269/12:00 Comprehensive investigation of CASK and other relevant genes in 41 patients with intellectual disability, microcephaly and disproportionate pontine and cerebellar hypoplasia (MICPCH) using next-generation sequencing. S. Hayashi, N. Okamoto, J. Takanashi, J. Inazawa.
52. Contribution of Common and Rare Variation to Obesity-Related Traits
270/12:15 ABAT is a novel human mitochondrial DNA depletion syndrome gene linking gammaaminobutyric acid (GABA) catabolism and mitochondrial nucleoside metabolism. P. Bonnen, A. Besse, P. Wu, F. Bruni, T. Donti, B. Graham, W. Craigen, R. McFarland, P. Moretti, S. Lalani, K. Scott, R. Taylor.
Room 6DE, Upper Level, Convention Center Moderators: Anne Justice, Univ North Carolina, Chapel Hill; Cecilia Lindgren, Broad Inst, Cambridge 271/10:30 GWAS meta-analysis of ten studies identifies five novel loci associated with gallstone disease in European ancestry individuals. A. D. Joshi, C. Andersson, S. Buch, M. Gala, R. Noordam, A. Teumer, S. Stender, B. G. Nordestgaard, L. Weng, A. R. Folsom, P. L. Lutsey, D. Ellinghaus, W. Lieb, C. Shafmayer, B. Boehm, A. Tybjærg-Hansen, U. Völker, H. Völzke, L. Rose, P. E. Weeke, D. M. Roden, J. C. Denny, W. Tang, B. H. Stricker, J. Hampe, D. I. Chasman, A. D. Johnson, A. T. Chan. 272/10:45 Association analyses of 100,720 individuals reveal new loci associated with body fat percentage providing new insights in related cardiometabolic traits. Y. Lu, F. Day, S. Gustafsson, T. Kilpeläinen, R. Loos, on behalf of the Genetics of Body Fat Consortium. 273/11:00 Genome-wide analysis in Africans provides novel insight into the genetic basis of the metabolic syndrome. F. Tekola-Ayele, A. P. Doumatey, G. Chen, D. Shriner, A. R. Bentley, J. Zhou, A. Adeyemo, C. N. Rotimi. 274/11:15 Contribution of low-frequency variants to variation in body mass index. V. Turcot, Y. Lu, J. Czajkowski, H. M. Highland, N. G. D. Masca, A. Giri, T. L. Edwards, T. Esko, M. Graff, A. E. Justice, C. Medina-Gomez, C. Schurmann, R. A. Scott, K. Sin Lo, S. S. Sivapalaratnam, L. Southam, K. Stirrups, T. W. Winkler, H. Yaghootkar, K. L. Young, A. L. Cupples, T. M. Frayling, J. N. Hirschhorn, G. Lettre, C. M. Lindgren, K. E. North, I. B. Borecki, R. J. F. Loos, for BBMRI, GOT2D, CHARGE, and GIANT Consortia. 275/11:30 Genome-wide identification of novel genetic variants associated with erythrocyte membrane fatty acids. A. E. Locke, A. U. Jackson, A. Stancáková, Y. Wu, T. M. Teslovich, C. Fuchsberger, N. Narisu, P. Chines, R. Welch, H. M. Stringham, X. L. Sim, J. Huyghe, M. Civelek, N. K. Saleem, A. He, C. Tilford, P. Gargalovic, T. Kirchgessner, A. J. Lusis, K. Mohlke, M. Boehnke, M. Laakso. 276/11:45 Filtering for genomic nonsense to find biological significance: SLC13A1 nonsense variants enriched in a founder population are associated with reduced serum sulfate and increased aspartate aminotransferase levels. C. G. Perry, J. A. Perry, J. R. O’Connell, L. M. Yerges-Armstrong, A. R. Shuldiner.
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INVITED AND PLATFORM SESSIONS
Tuesday, October 21 10:30 am–12:30 pm (SESSION 52, continued)
Tuesday, October 21 10:30 AM–12:30 PM Concurrent Platform Session D
277/12:00 Integrating metabolite, BMI and genetic data in phenotypic extremes, drawn from a population of 50,000 samples, to assess causality of metabolite levels in obesity. T. Esko, A. Metspalu, C. Clish, J. N. Hirschhorn.
53. The Dynamic Genome: Structural and Somatic Variation
278/12:15 Systems genetics analyses of human adipose tissue gene expression identify cis and trans regulatory networks for cardio-metabolic traits. M. Civelek, Y. Wu, C. Pan, A. He, C. Tilford, N. K. Saleem, C. Fuchsberger, A. Locke, H. M. Stringham, A. U. Jackson, N. Narisu, P. S. Chines, Y. Zhao, P. S. Gargalovic, J. Kuusisto, P. Pajukanta, K. Hao, X. Yang, T. G. Kirchgessner, F. S. Collins, M. Boehnke, M. Laakso, K. L. Mohlke, A. J. Lusis.
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Room 20A, Upper Level, Convention Center Moderators: Alexander Hoischen, Radboud Univ, Nijmegen, Netherlands; Santhosh Girirajan, Penn State, University Park 279/10:30 Origin, frequency and functional impact of de novo structural changes in the human genome. K. Ye, W. Kloosterman, L. C. Francioli, F. Hormozdiari, T. Marschall, J. Y. Hehir-Kwa, A. Abdellaoui, E. W. Lameijer, M. H. Moed, V. Koval, I. Renkens, M. J. van Roosmalen, P. Arp, L. Karssen, B. P. Coe, R. E. Handsaker, E. Cuppen, D. T. Thung, M. C. Wendl, A. Uitterlinden, C. M. van Duijn, M. Swertz, C. Wijmenga, G. van Ommen, P. E. Slagboom, D. I. Boomsma, A. Schonhuth, E. E. Eichler, P. I. W. de Bakker, V. Guryev. 280/10:45 Parental somatic mosaicism contributes an under-recognized source of potentially recurrent new mutations. I. M. Campbell, B. Yuan, C. Robberecht, R. Pfundt, P. Szafranski, M. M. McEntagart, S. C. S. Nagamani, A. Erez, M. Bartnik, B. Wisniowiecka-Kowalnik, K. S. Plunkett, A. N. Pursley, S. H. L. Kang, W. Bi, S. R. Lalani, C. A. Bacino, M. Vast, K. Marks, M. Patton, P. Olofsson, A. Patel, J. A. Veltman, S. W. Cheung, C. A. Shaw, L. E. L. M. Vissers, J. R. Vermeesch, J. R. Lupski, P. Stankiewicz. 281/11:00 Analysis of the genetic variation and age effects on gene expression using RNA-seq data from multiple tissues. A. Viñuela, A. A. Brown, A. Buil, M. N. Davies, P. Tsai, J. T. Bell, K. S. Small, E. T. Dermitzakis, R. Durbin, T. D. Spector. 282/11:15 Dynamics of personal omics profiles during periods of health, disease, weight gain and loss. M. Snyder, W. Zhou, B. Piening, K. Kukurba, K. Contrepois, C. Craig, R. Chen, G. Mias, J. Li-PookThan, S. Mitra, L. Jiang, B. Hanson, B. Leopold, S. Leopold, B. Cooper, L. Liu, V. Sikora-Wohfield, A. Butte, H. Tang, E. Sodergren, G. Weinstock, T. McLaughlin, M. Snyder.
284/11:45 High-throughput determination of long interspersed element-1 integration preferences in the human genome. D. A. Flasch, A. Macia, T. Widmann, J. L. García-Pérez, T. E. Wilson, J. V. Moran.
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283/11:30 Longitudinal study of whole blood transcriptomes in a twin cohort. J. Bryois, A. Buil, P. Ferreira, N. Panoussis, A. Planchon, D. Bielser, A. Viñuela, K. Small, T. Spector, E. T. Dermitzakis.
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INVITED AND PLATFORM SESSIONS
Tuesday, October 21 10:30 am–12:30 pm (SESSION 53, continued)
Tuesday, October 21 10:30 AM–12:30 PM Concurrent Platform Session D
285/12:00 Cryptic splicing adversely affects LINE-1 retrotransposition. P. A. Larson, C. R. Beck, J. V. Moran.
54. Expanding Clinical Phenotypes
286/12:15 Discovery of a novel retrotransposon family in the Callithrix jacchus genome. M. K. Konkel, B. Ullmer, J. A. Walker, R. Hubley, E. L. Arceneaux, S. Sanampudi, C. C. Fontenot, A. F. A. Smit, M. A. Batzer, Common Marmoset Genome Sequencing and Analysis Consortium.
Room 20BC, Upper Level, Convention Center Moderators: Ozlem Goker-Alpan, Ctr Clinical Trials, Fairfax; Mitzi L. Murray, Univ Washington, Seattle 287/10:30 Comprehensive phenotypic analysis of 19 individuals with Goltz syndrome (focal dermal hypoplasia). V. Sutton, H. Herce, T. R. Hunt, A. L. Smith, K. J. Motil, A. F. Bree, M. Fete, R. W. Goltz. 288/10:45 Multiple symmetric lipomatosis – new aspects of a forgotten syndrome. J. Schreml, A. Lindner, O. Felthaus, S. Klein, C. Pallouras, S. Schreml, I. Harsch, T. Meitinger, T. M. Strom, J. Altmüller, S. Staubach, F. G. Hanisch, H. Thiele, P. Nürnberg, L. Prantl. 289/11:00 Obstetric and gynecologic health in patients with xeroderma pigmentosum. M. Merideth, D. Tamura, J. DiGiovanna, K. Kraemer. 290/11:15 Adams-Oliver syndrome: Refining the diagnostic phenotype. S. Hassed, S. Li, J. Mulvihill, S. Palmer. 291/11:30 Alpha-fetoprotein assay on dried blood spot for hepatoblastoma screening in children with Beckwith-Wiedemann syndrome and isolated hemihyperplasia. A. Mussa, V. Pagliardini, C. Molinatto, G. Baldassarre, A. Corrias, F. Fagioli, M. Cirillo Silengo, G. B. Ferrero. 292/11:45 Clinical and radiographic study of 93 patients with a molecularly proven non-lethal type 2 collagen disorder. G. R. Mortier, R. J. A. J. Nievelstein, E. J. J. Verver, V. Topsakal, P. Van Dommelen, K. Hoornaert, M. Le Merrer, A. Zankl, M. E. H. Simon, S. F. Smithson, C. Marcelis, B. Kerr, J. Clayton-Smith, E. Kinning, S. Mansour, F. Elmslie, L. Goodwin, A. H. van der Hout, H. E. Veenstra-Knol, J. C. Herkert, A. M. Lund, R. C. M. Hennekam, A. Mégarbané, M. M. Lees, L. C. Wilson, A. Male, J. Hurst, N. V. Knoers, P. Coucke, P. A. Terhal. 293/12:00 Diagnostic criteria for Stickler syndrome based on comprehensive clinical and molecular analysis. F. Acke, P. Coucke, O. Vanakker, K. Hoornaert, I. Dhooge, A. De Paepe, E. De Leenheer, F. Malfait. 294/12:15 Updated cardiac description in Loeys Dietz syndrome. G. L. Oswald, E. M. Reynolds, H. C. Dietz, J. P. Habashi, genTAC Consortium Investigators.
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Tuesday, October 21 10:30 AM–12:30 PM Concurrent Platform Session D
Tuesday, October 21 10:30 AM–12:30 PM (SESSION 55, continued)
55. Cancer Susceptibility Genes: Identification and Implementation
300/11:45 Impact of genetic testing on reducing colorectal cancer. D. W. Neklason, H. A. Hanson, C. Schaefer, G. Mineau, M. F. Leppert, R. W. Burt, K. R. Smith.
Room 20D, Upper Level, Convention Center Moderators: Ephrat Levy-Lahad, Shaare Zedek Med Ctr, Jerusalem, Israel; Matt Deardorff, CHOP, Philadelphia 295/10:30 Mosaic loss of chromosome Y in blood cells is associated with shorter survival and higher risk of cancer in men. L. A. Forsberg, C. Rasi, N. Malmqvist, H. Davies, S. Pasupulati, G. Pakalapati, J. Sandgren, T. Diaz de Ståhl, A. Zaghlool, V. Giedraitis, L. Lannfelt, J. Score, N. C. P. Cross, D. Absher, E. Tiensuu Janson, C. Lindgren, A. P. Morris, E. Ingelsson, L. Lind, J. P. Dumanski. 296/10:45 Genetic heritability of common nonHodgkin lymphoma subtypes. S. I. Berndt, L. M. Morton, S. S. Wang, L. R. Teras, S. L. Slager, J. Vijai, K. Smedby, G. M. Ferri, L. Miligi, C. Magnani, D. Albanes, A. R. Brooks-Wilson, E. Roman, A. Monnereau, P. Vineis, A. Nieters, B. M. Birmann, G. G. Giles, M. P. Purdue, B. K. Link, C. M. Vajdic, A. Zeleniuch-Jacquotte, C. F. Skibola, Y. Zhang, J. R. Cerhan, Z. Wang, N. Rothman, S. J. Chanock, J. Sampson, on behalf of NHL GWAS Project.
301/12:00 Performance of multi-gene panels for familial cancer screening in clinical cases: The ColoSeq and BROCA experience. B. H. Shirts, S. Casadei, A. Jacobson, E. Turner, J. F. Tait, M. C. King, T. Walsh, C. C. Pritchard. 302/12:15 Unanticipated germline cancer susceptibility mutations identified by clinical exome sequencing of sequentially diagnosed pediatric solid tumor patients: The BASIC3 study. S. E. Plon, S. Scollon, K. Bergstrom, T. Wang, R. A. Kerstein, U. Ramamurthy, D. M. Muzny, S. G. Hilsenbeck, Y. Yang, C. M. Eng, R. A. Gibbs, D. W. Parsons.
297/11:00 A genome-wide scan identifies NFIB as important for metastasis in osteosarcoma patients. L. Mirabello, R. Koster, L. Spector, O. A. Panagiotou, P. S. Meltzer, B. Moriarty, D. Largaespada, N. Pankratz, J. M. Gastier-Foster, R. Gorlick, C. Khanna, A. M. Flanagan, R. Tirabosco, I. L. Andrulis, N. Gokgoz, J. S. Wunder, A. Patiño-Garcia, F. Lecanda, L. Sierrasesúmaga, S. R. C. de Toledo, A. S. Petrilli, M. Serra, C. Hattinger, P. Picci, S. Wacholder, L. Helman, M. Yeager, R. N. Hoover, S. J. Chanock, S. A. Savage.
299/11:30 Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in patients with colorectal adenomas and carcinomas. I. Spier, S. Holzapfel, J. Altmüller, B. Zhao, S. Horpaopan, S. Vogt, S. Chen, M. Morak, S. Raeder, K. Kayser, D. Stienen, R. Adam, P. Nürnberg, G. Plotz, E. Holinski-Feder, R. P. Lifton, H. Thiele, P. Hoffmann, V. Steinke, S. Aretz.
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INVITED AND PLATFORM SESSIONS
298/11:15 Enrichment of colorectal cancer associations in functional regions: Insight for combining ENCODE and Roadmap Epigenomics data in the analysis of whole genome sequencingimputed GWAS. S. Rosse, P. Auer, T. Harriason, C. Carlson, C. Qu, G. R. Abecasis, S. I. Berndt, S. Bézieau, H. Brenner, G. Casey, A. T. Chan, J. Chang-Claude, S. Chen, S. Jiao, C. M. Hutter, L. Le Marchand, S. M. Leal, P. A. Newcomb, M. L. Slattery, J. Smith, E. White, B. W. Zanke, U. Peters, D. A. Nickerson, A. Kundaje, L. Hsu.
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INVITED AND PLATFORM SESSIONS
Tuesday, October 21 10:30 AM–12:30 PM Concurrent Platform Session D
Tuesday, October 21 10:30 AM–12:30 PM (SESSION 56, continued)
56. Balanced and Unbalanced Chromosomal Rearrangements
310/12:15 De novo DYRK1A point mutations cause similar phenotypes to those observed in microdeletions including 21q22.13: Further evidence for DYRK1A’s critical role in brain development. J. Ji, N. Dorrani, J. Mann, J. A. Martinez-Agosto, N. Gallant, J. A. Bernstein, N. Gomez-Ospina, L. Hudgins, L. Slattery, B. Isidor, E. Obersztyn, B. Wis´ niowiecka-Kowalnik, M. Fox, H. Lee, J. Deignan, E. Vilain, S. F. Nelson, W. Grody, F. Quintero-Rivera.
Room 28, Upper Level, Convention Center Moderators: Terry J. Hassold, Washington State Univ, Pullman; Christa L. Martin, Geisinger Hlth Syst, Lewisburg 303/10:30 An evidence-based dosage sensitivity map towards defining the clinical genome. E. Riggs, E. Andersen, B. Hong, H. Kearney, G. Hislop, S. Kantarci, D. Pineda-Alvarez, U. Maye, D. McMullan, M. Serrano, I. Simonic, S. South, M. Speevak, K. Smith, J. Stavropoulos, K. Wain, S. Aradhya, E. Thorland, C. Martin, on behalf of Clinical Genome Resource. 304/10:45 Next-generation sequencing of duplication CNVs reveals that most are tandem and some disrupt genes at breakpoints. K. Rudd, K. E. Hermetz, B. Weckselblatt, S. Newman. 305/11:00 Balanced chromosome rearrangements rapidly annotate the morbid human genome. T. Kammin, K. E. Wong, B. B. Currall, Z. Ordulu, H. Brand, V. Pillalamarri, C. Hanscom, I. Blumenthal, J. F. Gusella, E. C. Liao, M. E. Talkowski, C. C. Morton. 306/11:15 The perplexing prevalence of familial nested 22q11.2 deletions. D. M. McDonald-McGinn, L. DiCairano, J. T. Goulet, A. Capezzuto, A. Krajewski, C. Franconi, M. McNamara, D. E. McGinn, B. S. Emanuel, E. H. Zackai. 307/11:30 9q33.3q34.11 microdeletion: Delineation of a new contiguous gene syndrome including the STXBP1, LMX1B and ENG genes using reverse phenotyping. S. Nambot, A. Mosca Boidron, A. Masurel, M. Lefebvre, N. Marle, J. Thevenon, J. De Montléon, S. Perez Martin, M. Chouchane, E. Sapin, J. Metaizeau, V. Dulieu, F. Huet, C. Thauvin Robinet, L. Chatel, V. Abadie, G. Plessis, J. Andrieux, P. Jouk, G. Billy Lopez, C. Coutton, F. Morice Picard, M. Delrue, C. Rooryck Thambo, L. Faivre. 308/11:45 Alu-enriched genomic structure facilitates chromosome 17p13.3 region susceptibility to diverse and complex pathogenic copy number variations. S. Gu, B. Yuan, I. M. Campbell, A. Patel, C. Bacino, P. Stankiewicz, S. W. Cheung, W. Bi, J. R. Lupski. 309/12:00 Decoding NF1 intragenic copy number changes. M. Hsiao, A. Piotrowski, T. Callens, C. Fu, L. Messiaen.
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INVITED AND PLATFORM SESSIONS
89
Tuesday, October 21 10:30 AM–12:30 PM Concurrent Platform Session D
Tuesday, October 21 10:30 AM–12:30 PM Concurrent Platform Session D
57. Diagnostic Yield of New Genomic Technologies
58. Genetic/Genomic Education and Services Delivery
Room 29, Upper Level, Convention Center Moderators: Heidi Rehm, Harvard Med Sch, Cambridge; Lee Jun C. Wong, Baylor Col Med, Houston
Room 30, Upper Level, Convention Center Moderators: Arti Pandya, Virginia Commonwealth Univ, Richmond; Kevin Sweet, Ohio State Univ, Columbus
311/10:30 Prenatal whole genome SNP array diagnosis as a first-line test: nature and prevalence of abnormal results in phenotypically normal and abnormal fetuses. F. A. T. de Vries, M. I. Srebniak, L. C. P. Govaerts, K. E. M. Diderich, R. J. H. Galjaard, A. M. S. Joosten, A. R. M. Van Opstal. 312/10:45 The clinical utility of molecular genetic testing strategies for the diagnosis of mitochondrial disorders. R. Bai, D. Arjona, J. Higgs, J. Scuffins, J. Juusola, P. Vitazka, J. Neidich, K. Retterer, K. Parsons, N. Smaoui, E. Haverfield, S. Suchy, G. Richard. 313/11:00 Pathogenic variant spectrum in newly described cancer genes on next-generation cancer panels. L. Susswein, L. Vincent, R. Klein, J. Booker, M. L. Cremona, P. Murphy, K. Hruska. 314/11:15 Exome sequencing for the diagnosis of 46,XY disorders of sex development. E. C. Delot, R. M. Baxter, V. A. Arboleda, H. Lee, H. Barseghyan, M. P. Adam, P. Y. Fechner, R. Bargman, K. Keegan, S. Travers, S. Schelley, L. Hudgins, R. P. Mathew, H. J. Stalker, R. Zori, O. K. Gordon, L. Ramos-Platt, A. Eskin, S. F. Nelson, E. Vilain.
319/10:30 Clinician CME tailored to individual patient’s whole exome results. M. A. Giovanni, M. F. Murray. 320/10:45 Changing the landscape of genomics education through a massive open online course: Genomic medicine gets personal. B. R. Haddad, J. Russel, S. Pennestri, D. Demaree, M. Tan, B. N. Peshkin. 321/11:00 Genome: Unlocking life’s code – a museum exhibition as a model for informal genomics education. V. Bonham, C. Easter, E. Schonman, C. Daulton, R. Wise, B. Hurle, J. Witherly. 322/11:15 Human Genetics: Medical and Societal Implications. A high school course taught on a medical school campus. M. Godfrey, J. E. Bird. 323/11:30 Whole genome sequencing in a healthy population: Processes, challenges, and insights. C.S. Richards, P. Jain, M.O. Dorschner, D.A. Nickerson, G.P. Jarvik, L.M. Amendola, D.K. Simpson, A. Rope, J. Reiss, K. Kennedy, D.I. Quigley, J. Berg, C. Harding, M. Gilmore, P. Himes, B. Wilfond, K.A.B. Goddard, on behalf of NextGen Project Team.
315/11:30 Clinical exomes for hearing loss: Surprising diagnoses and better yields. L. H. Hoefsloot, I. Feenstra, I. J. de Wijs, M. H. Siers, H. P. M. Kunst, R. J. Admiraal, R. J. E. Pennings, H. Scheffer, H. Kremer, H. G. Yntema.
324/11:45 Patient perceptions about the utility of family history review during whole genome sequencing: Initial findings from the MedSeq Study. K. D. Christensen, P. J. Lupo, J. O. Robinson, J. Blumenthal-Barby, J. L. Vassy, L. S. Lehmann, P. A. Ubel, J. S. Roberts, R. C. Green, A. L. McGuire, MedSeq Study Team.
316/11:45 De novo mutations identified in clinical whole exome sequencing. S. Pan, F. Xia, D. Muzny, S. Plon, J. Lupski, A. Beaudet, R. Gibbs, C. Eng, Y. Yang.
325/12:00 Hereditary cancer communication with underserved patients. G. Joseph, C. Guerra. 326/12:15 Cost effectiveness of adding genes to next-generation sequencing panels for evaluation of colorectal cancer and polyposis syndromes. C. J. Gallego, B. S. Shirts, C. C. Pritchard, G. P. Jarvik, D. L. Veenstra.
318/12:15 Exploring the diagnostic yield of whole exome sequencing in a broad range of genetic conditions: The first 200 cases in the NCGENES study. N. T. Strande, C. Bizon, J. K. Booker, K. R. Crooks, A. K. M. Foreman, G. T. Haskell, M. A. Hayden, K. Lee, M. Lu, L. Milko, J. M. O’Daniel, P. Owen, B. C. Powell, C. Skrzynia, C. R. Tilley, A. Treece, D. Young, K. C. Wilhelmsen, K. E. Weck, J. S. Berg, J. P. Evans.
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INVITED AND PLATFORM SESSIONS
317/12:00 Frequency of “ACMG-56” variants in whole genomes of healthy elderly. L. Ariniello, C. S. Bloss, G. Erickson, P. Pham, D. Boeldt, O. Libiger, N. Schork, E. Topol, A. Van Zeeland, A. Torkamani.
90
INVITED AND PLATFORM SESSIONS
Tuesday, October 21 4:30 PM–6:30 PM Concurrent Platform Session E
Tuesday, October 21 4:30 PM–6:30 PM Concurrent Platform Session E
59. We Have the Technology: Next-Generation Genomic Methods
60. Hereditary Breast-Ovarian Cancer
Hall B1, Ground Level, Convention Center Moderators: Melissa Gymrek, MIT, Cambridge; Jay Shendure, Univ Washington, Seattle 327/4:30 Whole-genome single-cell haplotyping, a generic method for preimplantation genetic diagnosis. M. Zamani Esteki, E. Dimitriadou, L. Mateiu, C. Melotte, N. Van der Aa, P. Kumar, R. Das, K. Theunis, J. Cheng, E. Legius, Y. Moreau, S. Debrock, T. D’Hooghe, P. Verdyck, M. De Rycke, K. Sermon, J. R. Vermeesch, T. Voet. 328/4:45 Targeted locus amplification for hypothesis neutral next-generation sequencing and haplotyping of selected genomic loci. M. J. van Min, P. J. P. de Vree, W. de Laat, E. de Wit, M. Yilmaz, M. van de Heijning, P. Klous, P. ter Brugge, J. Jonkers, J. Foekens, J. Martens, H. K. Ploos van Amstel, P. P. Eijk, D. Sie, B. Ylstra, M. Ligtenberg, M. F. van Dooren, L. J. C. M. van Zutven, E. Splinter, S. Verbeek, K. Willems van Dijk, M. Cornelissen, A. T. Das, B. Berkhout, B. Sikkema Radatz, E. van den Berg, P. van der Vlies, Y. Wan, J. T. den Dunnen, M. Lamkanfi, Hubrecht Institute. 329/5:00 Saturation genome editing by multiplex homologous donor repair. G. M. Findlay, E. A. Boyle, R. J. Hause, J. Klein, J. Shendure. 330/5:15 Metagenomic deconvolution and species discovery in microbiomes using contact probability maps. J. N. Burton, I. Liachko, M. J. Dunham, J. Shendure. 331/5:30 Deep whole-genome sequencing based analysis of mosaic transposable mobile element insertions in adult human tissue. X. Zhu, A. FistonLavier, D. Petrov, M. Snyder, D. Levinson, A. Urban. 332/5:45 Increased complexity of the human genome revealed by single-molecule sequencing. M. J. P. Chaisson, J. Huddleston, P. H. Sudmant, M. Malig, F. Hormozdiari, U. Surti, R. Wilson, M. Hunkapiller, J. Korlach, E. E. Eichler. 333/6:00 In situ genome-wide expression profiling of individual cell types. C. Kodira, A. Sood, L. Newberg, A. Miller, F. Ginty, E. McDonough, Y. Sui, A. Bordwell, Q. Li, S. Kaanumalle, K. Desai, Z. Pang, E. Brogi, S. Larson, I. Mellinghoff. 334/6:15 Whole-genome sequencing characterizes multiple mutational mechanisms resulting from off-target effects of CRISPR-Cas9 and TALEN treatments in human embryonic stem cells. R. L. Collins, A. Veres, H. Brand, A. Ragavendran, S. Erdin, Q. Ding, B. S. Gosis, K. Musunuru, M. E. Talkowski.
Room 6AB, Upper Level, Convention Center Moderators: Tom Walsh, Univ Washington, Seattle; Sam Hanash, Univ Texas MD Anderson Cancer Ctr., Houston 335/4:30 Constitutional BRCA1 methylation is a major predisposition factor for high-grade serous ovarian cancer. A. Dobrovic, T. Mikeska, K. Alsop, G. V. Zapparoli, I. L. Candiloro, J. George, G. Mitchell, D. Bowtell, Australian Ovarian Cancer Study. 336/4:45 Candidate causal variants from three independent genetic signals at the 5q11.2 breast cancer risk locus regulate MAP3K1. D. M. Glubb, K. A. Pooley, K. Michailidou, M. J. Maranian, K. B. Meyer, J. A. Betts, K. M. Hillman, S. Kaufmann, G. ChenevixTrench, D. F. Easton, A. M. Dunning, S. L. Edwards, J. D. French, Breast Cancer Association Consortium. 337/5:00 A profile of inherited predisposition to breast cancer among Nigerian women. Y. Zheng, T. Walsh, F. Yoshimatsu, M. Lee, S. Gulsuner, S. Casadei, A. Rodriguez, T. Ogundiran, C. Babalola, O. Ojengbede, D. Sighoko, R. Madduri, M.-C. King, O. Olopade. 338/5:15 Estimates for inherited mutations in breast cancer susceptibility genes among triple-negative breast cancer patients. F. Couch, S. N. Hart, P. Sharma, A. Ewart Toland, X. Wang, P. Miron, J. E. Olson, A. Godwin, V. S. Pankratz, C. Olswold, M. W. Beckmann, W. Janni, B. Rack, A. Ekici, D. J. Slamon, I. Konstantopoulou, F. Fostira, G. Fountzilas, L. Pelttari, S. Yao, J. Garber, A. Cox, H. Brauch, C. Ambrosone, H. Nevanlinna, D. Yannoukakos, S. L. Slager, C. M. Vachon, D. M. Eccles, P. A. Fasching. 339/5:30 Inherited mutations in ovarian cancer - PALB2 and BARD1 are likely ovarian cancer susceptibility genes. B. Norquist, M. I. Harrell, M. F. Brady, T. Walsh, M. K. Lee, S. Gulsuner, Q. Yi, S. Casadei, S. Bernards, S. A. Davidson, R. S. Mannel, P. A. DiSilvestro, M. C. King, M. J. Birrer, E. M. Swisher. 340/5:45 Implementing PALB2 gene testing in breast and ovarian cancer patients in UK. N. Rahman, E. Ruark, S. Seal, A. Renwick, E. Ramsay, S. Powell, M. Warren-Perry, H. Hanson, C. Lord, C. Turnbull. 341/6:00 Functional variant assays for predicting breast cancer risks of genetic variants in the DNA double-stranded break repair pathway. H. Ostrer, A. Pearlman, K. Upadhyay, Y. Shao, J. Loke.
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INVITED AND PLATFORM SESSIONS
Tuesday, October 21 4:30 PM–6:30 PM (SESSION 60, continued)
Tuesday, October 21 4:30 PM–6:30 PM Concurrent Platform Session E
342/6:15 Genome-wide association study of progression-free survival in ovarian cancer patients treated with carboplatin and paclitaxel identifies an enhancer that regulates three nearby genes. G. Chenevix-Trench, Y. Lu, J. Beesley, K. Hillman, S. Edwards, S. Johnatty, S. Macgregor, B. Gao, J. French, A. deFazio, on behalf of Ovarian Cancer Association Consortium.
61. Genomic Studies of Schizophrenia and Bipolar Disorder
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Room 6CF, Upper Level, Convention Center Moderators: Michael Epstein, Emory Univ, Altanta; Laura Scott, Univ Michigan, Ann Arbor 343/4:30 Emerging patterns of schizophrenia risk conferred by de novo mutation. D. Howrigan, B. Neale, K. Samocha, J. Moran, K. Chambert, S. Rose, M. Fromer, S. Chandler, N. Laird, H. G. Hwu, W. J. Chen, S. Faraone, S. Glatt, M. Tsuang, S. McCarroll. 344/4:45 Discoveries from a genome-wide analysis of CNVs in the PGC study of schizophrenia. J. Sebat, C. R. Marshall, D. Howrigan, D. Merico, B. Thiruvahindrapuram, W. Wu, M. O’Donovan, S. Scherer, B. Neale, Schizophrenia and CNV analysis groups of Psychiatric Genomics Consortium. 345/5:00 A functional role for non-coding variation in schizophrenia genome-wide significant loci. P. Sklar, A. Mitchell, G. Voloudakis, V. Pothula, E. Stahl, A. Georgakopoulos, D. Ruderfer, J. Fullard, A. Charney, Y. Okada, K. Siminovitch, J. Worthington, L. Padyukov, L. Klareskog, P. Gregersen, R. Plenge, S. Raychaudhuri, M. Fromer, S. Purcell, K. Brennand, M. Fromer, N. Robakis, E. Schadt, S. Akbarian, P. Roussos. 346/5:15 Comprehensive, integrative and hypothesis-free pathway analysis of genome-wide association data highlights synaptic transmission, dendritic spines and the post-synaptic density in schizophrenia. T. H. Pers, S. Ripke, L. Franke, J. N. Hirschhorn, for the Psychiatric Genetics Consortium. 347/5:30 Integrating network analyses and genetics with large-scale RNA-sequencing of schizophrenia brains. M. Fromer, for CommonMind Consortium, Swedish Schizophrenia Consortium, Schizophrenia Working Group of PGC.
349/6:00 A rare regulatory noncoding variant in GWAS-implicated MIR137/MIR2682 locus potentially confers risk to both schizophrenia and bipolar disorder. J. Duan, J. Shi, A. Fiorentino, C. Leites, J. Chen, W. Moy, B. Alexandrov, D. He, J. Freda, A. Bishop, N. L. O’Brien, MGS, GPC, X. Chen, A. Usheva, A. McQuillin, A. R. Sanders, H. M. D. Gurling, M. T. Pato, K. S. Kendler, C. N. Pato, P. V. Gejman.
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INVITED AND PLATFORM SESSIONS
348/5:45 RNAseq transcriptome study implicates immune-related genes in schizophrenia. A. R. Sanders, E. I. Drigalenko, J. Duan, W. Moy, J. Freda, MGS Collaboration, H. H. H. Göring, P. V. Gejman.
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Tuesday, October 21 4:30 PM–6:30 PM (SESSION 61, continued)
Tuesday, October 21 4:30 PM–6:30 PM Concurrent Platform Session E
350/6:15 GWAS of bipolar 1 disorder in a multiethnic cohort of 72,823 identifies four novel loci. C. Schaefer, L. Shen, K. Kearney, M. McCormick, S. P. Hamilton, L. A. McInnes, V. Reus, J. Wall, P.-Y. Kwok, M. Kvale, T. J. Hoffmann, E. Jorgenson, N. Risch.
62. From Association to Function in Complex Traits Room 6DE, Upper Level, Convention Center Moderators: Kyle Gaulton, Univ Oxford, UK; Nadav Ahituv, UC San Francisco 351/4:30 Partitioning heritability by functional category using summary statistics. H. Finucane, B. Bulik-Sullivan, A. Gusev, G. Trynka, P. Loh, H. Xu, C. Zang, S. Ripke, S. Purcell, M. Daly, E. Stahl, S. Raychaudhuri, S. Lindstrom, N. Patterson, B. Neale, A. Price, Schizophrenia Working Group of Psychiatric Genetics Consortium. 352/4:45 Identification of multiple regulatory variants at the GALNT2 human high-density lipoprotein cholesterol locus. T. S. Roman, A. F. Marvelle, M. P. Fogarty, S. Vadlamudi, M. L. Buchkovich, J. R. Huyghe, C. Fuchsberger, A. U. Jackson, K. J. Gaulton, A. J. Gonzalez, P. Soininen, A. J. Kangas, J. Kuusisto, M. Ala-Korpela, M. Laakso, M. Boehnke, K. L. Mohlke. 353/5:00 A PAX1 enhancer locus increases risk of idiopathic scoliosis in females. C. Wise, S. Sharma, D. Londono, W. Eckalbar, X. Gao, I. Kou, A. Takahashi, M. Matsumoto, J. A. Herring, D. K. Burns, S. Ikegawa, N. Ahituv, D. Gordon. 354/5:15 Characterization of the type 2 diabetesassociated KLF14 trans-regulatory network. K. Small, L. Quaye, A. Hough, M. Todorcevic, A. Mahajan, M. Horikoshi, A. Buil, A. Vinuela, C. Glastonbury, A. Brown, J. Bell, A. Gloyn, R. Cox, F. Karpe, M. McCarthy. 355/5:30 mRNA-seq of 278 diverse skeletal muscle biopsies reveals mechanistic insights about type 2 diabetes genetic risk and identifies disease state specific eQTLs. J. R. Huyghe, S. C. J. Parker, M. R. Erdos, H. Koistinen, P. S. Chines, R. Welch, X. Wen, H. Jiang, N. Narisu, L. Taylor, B. Wolford, L. J. Scott, H. Stringham, L. Kinnunen, T. Blackwell, A. U. Jackson, Y. Lee, A. J. Swift, L. Bonnycastle, M. L. Stitzel, R. M. Watanabe, K. Mohlke, T. Lakka, M. Laakso, J. Tuomilehto, F. S. Collins, M. Boehnke. 356/5:45 Genetic analyses of hepatic steatosis GWAS associated loci. E. K. Speliotes, Y. Chen, A. W. Tai. 357/6:00 FOXO3 regulates fetal hemoglobin levels in sickle cell anemia. V. Sheehan, Y. Zhang, J. Crosby, R. Ware, E. Boerwinkle. 358/6:15 Susceptibility to tuberculosis is associated with the ASAP1 gene that regulates dendritic cell migration. Y. Luo, J. Curtis, H. L. Zenner, D. Cuchet-Lourenco, C. Wu, K. Lo, M. Maes, A. Alisaac, E. Stebbings, J. Z. Liu, O. Ignatyeva, Y. Balabanova, V. Nikolayevskyy, P. Nürnberg, R. Horstmann, F. Drobniewski, V. Plagnol, J. C. Barrett, S. Nejentsev.
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93
Tuesday, October 21 4:30 PM–6:30 PM Concurrent Platform Session E
Tuesday, October 21 4:30 PM–6:30 PM Concurrent Platform Session E
63. Therapy for Genetic Disorders
64. Exome Sequencing as Standard of Care in Clinical Genetics
Room 20A, Upper Level, Convention Center Moderators: Gerald Raymond, Univ Minnesota, Minneapolis; Michael J. Gambello, Emory Univ Sch Med, Atlanta 359/4:30 Targeting calpains: A therapeutic strategy for the treatment of TGF-mediated mesenchymal transition and associated pathologies. D. Kim, R. Gould, J. Butcher, H. Dietz. 360/4:45 Metabolic regulation by the MeCP2/ HDAC3 transcriptional corepressor complex points to new therapeutic targets in Rett syndrome. S. M. Kyle, C. M. Buchovecky, M. J. Justice. 361/5:00 Increasing IKAP expression by mRNA splicing modification improves phenotype in a mouse model of familial dysautonomia. E. Morini, P. Dietrich, M. Salani, F. Urbina, M. Nilbratt, I. Dragatsis, S. Slaugenhaupt. 362/5:15 Impact of early hormonal therapy on the neurobehavioral profile of boys with 47, XXY (Klinefelter syndrome) at 9 years of age. C. Samango-Sprouse, D. C. Gibbs, E. Stapelton, T. Sadeghin, A. L. Gropman. 363/5:30 A causative role for oxytocin in pregnancy-induced aortic dissection in Marfan syndrome mouse models. J. P. Habashi, E. M. Gallo, N. Huso, Y. Chen, D. Bedja, D. Huso, H. C. Dietz. 364/5:45 Most participants in the agalsidase beta phase 3 clinical trial in patients with classic Fabry disease experienced no severe clinical events during a 10-year follow-up period. D. P. Germain, J. Charrow, R. J. Desnick, J. T. Ebels, N. Guffon, J. Kempf, R. H. Lachmann, R. Lemay, G. E. Linthorst, S. Packman, C. R. Scott, S. Waldek, D. G. Warnock, N. J. Weinreb, W. R. Wilcox.
366/6:15 Effective treatment of mitochondrial myopathy by nicotinamide riboside, a vitamin B3. N. Khan, M. Auranen, I. Paetau, E. Pirinen, L. Euro, C. Carroll, J. Auwerx, A. Suomalainen.
367/4:30 Transition from clinically fully validated panels to medically relevant exome. L. Wong, V. W. Zhang, E. S. Schmitt, J. Wang. 368/4:45 How well do whole exome sequencing results correlate with clinical findings? A study of 89 Mayo Clinic biobank samples. S. Middha, N. M. Lindor, S. K. McDonnell, K. J. Johnson, J. E. Olson, E. D. Wieben, G. Farrugia, J. R. Cerhan, S. N. Thibodeau. 369/5:00 Clinical whole exome sequencing reveals contribution of rare genetic events to undiagnosed disease. C. M. Eng, D. Muzny, F. Xia, Z. Niu, R. Person, Y. Ding, P. Ward, A. Braxton, M. Wang, C. Buhay, N. Veeraraghavan, A. Hawes, T. Chiang, M. Leduc, J. Beuten, J. Zhang, W. He, J. Scull, A. Willis, M. Landsverk, W. Craigen, M. Bekeirnia, P. Liu, S. Wen, W. Alcaraz, H. Cui, M. Walkiewicz, M. Bainbridge, E. Boerwinkle, A. L. Beaudet, J. R. Lupski, S. E. Plon, R. A. Gibbs, Y. Yang. 370/5:15 Clinical exome sequencing at UCLA: Diagnosis rate, variant spectrum and novel gene discoveries. H. Lee, J. L. Deignan, N. Dorrani, S. Strom, N. Ghahramani, S. Kantarci, F. Quintero-Rivera, K. Das, M. Fox, W. W. Grody, E. Vilain, S. F. Nelson. 371/5:30 Medical exome: Towards achieving complete coverage of disease related genes. A. Santani, K. McDonald, D. Mandelkar, A. Ankala, C. da Silva, Z. Yu, K. Cao, H. Sharma, R. Shakbatyan, M. Lebo, B. Funke, M. Hegde. 372/5:45 Look before you leap, and list before you look: The use of a priori curated gene lists to guide exome analysis. B. C. Powell, A. K. M. Foreman, J. M. O’Daniel, K. Lee, L. Boshe, K. R. Crooks, M. Lu, Z. Fan, J. K. Booker, K. E. Weck, J. P. Evans, J. S. Berg. 373/6:00 Validation of small-molecule metabolomic profiling for the clinical screening of inborn errors of metabolism. M. J. Miller, A. D. Kennedy, A. D. Eckhart, J. E. Wulff, M. V. Milburn, J. A. Ryals, A. L. Beaudet, Q. Sun, V. R. Sutton, S. H. Elsea. 374/6:15 Free the data: EmBase and EmVClass facilitate storage, interpretation, curation, and sharing of over 11,000 sequence variants identified through clinical testing. L. J. H. Bean, S. W. Tinker, C. da Silva, M. R. Hedge.
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INVITED AND PLATFORM SESSIONS
365/6:00 ENGAGE: A phase 3, randomized, double blind, placebo-controlled, multi-center study to investigate the efficacy and safety of eliglustat in adults with Gaucher disease type 1: 18-month results. M. Balwani, D. Amato, M. Dasouki, G. Pastores, S. Packman, S. Assouline, P. Mistry, A. Ortega, S. Shankar, M. Solano, J. Angell, L. Ross, J. Peterschmitt.
Room 20BC, Upper Level, Convention Center Moderators: Livija Medne, CHOP, Philadelpia; Carol Saunders, Children’s Mercy Hosp, Kansas City
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Tuesday, October 21 4:30 PM–6:30 PM Concurrent Platform Session E 65. Beyond the Sequence: Genomic Regulation and Disease Room 20D, Upper Level, Convention Center Moderators: Stephen Meyn, Hosp for Sick Children, Toronto; Peter Scacheri, Case Western Reserve Univ, Cleveland 375/4:30 The role of TET1-mediated demethylation in gene regulation and memory formation. A. J. Towers, X.L. Li, A. L. Bey, P. Wang, Y.H. Jiang.
382/6:15 Imputation and subset based association analysis across different cancer types identifies multiple independent risk loci in the TERTCLPTM1L region on chromosome 5p15.33. Z. Wang, M. Zhang, B. Zhu, H. Parikh, J. Jia, C. C. Chung, J. N. Sampson, J. W. Hoskins, A. Hutchinson, L. Burdette, L. Mirabello, S. A. Savage, P. Kraft, S. J. Chanock, M. Yeager, M. T. Landi, J. Shi, N. Chatterjee, L. T. Amundadottir.
376/4:45 DNA methylation in the central nucleus of the amygdala contributes to anxious temperament in young primates. R. S. Alisch, P. Chopra, A. S. Fox, K. Chen, A. T. J. White, P. H. Roseboom, S. Keles, N. H. Kalin. 377/5:00 MicroRNA-486 overexpression delays the disease pathology of muscular dystrophy. M. S. Alexander, J. C. Casar, N. Motohashi, N. M. Vieira, I. Eisenberg, J. L. Marshall, M. J. Gasperini, A. Lek, J. A. Myers, E. A. Estrella, P. B. Kang, F. Shapiro, F. Rahimov, G. Kawahara, J. J. Widrick, L. M. Kunkel. 378/5:15 Mutations in nuclear envelope change myogenic epigenomic programs and normal cell fate. J. Perovanovic, S. Dell”orso, V. Sartorelli, K. Mamchaoui, V. Mouly, C. Vigouroux, G. Bonne, E. P. Hoffman. 379/5:30 Aberrant DNA hypermethylation of SDHC: A novel mechanism of tumor development in Carney Triad. F. Faucz, F. Haller, E. A. Moskalev, S. Batthelmeb, S. Wiemann, M. Bieg, G. Assie, J. Bertherat, I.-M. Schaefer, C. Otto, E. Rattenberry, E. R. Maher, P. Strobel, M. Werner, J. A. Carney, A. Hartmann, A. Agamy, C. A. Stratakis. 380/5:45 A screen-informed candidate gene approach identifies a large human telomere maintenance network. B. Holohan, W. Wright, J. Shay. 381/6:00 Association between telomere length SNPs and five cancer types: A Mendelian randomization study from the GAME-ON postGWAS consortium. C. Zhang, S. Burgess, P. Kraft, S. Lindstrom, R. Hung, U. Peters, H. Ahsan, T. Sellers, A. Monteiro, G. Trench, J. Doherty, B. Pierce, on behalf of CORECT, DRIVE, ELLIPSE, OCAC, and TRICL studies and GAME-ON Network.
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INVITED AND PLATFORM SESSIONS
95
Tuesday, October 21 4:30 PM–6:30 PM Concurrent Platform Session E
Tuesday, October 21 4:30 PM–6:30 PM Concurrent Platform Session E
66. A Clear Vision for Genetic Eye Diseases
67. Autoimmune Genes: Discovery and Function
Room 28, Upper Level, Convention Center Moderators: Lucia Sobrin, Harvard Univ, Cambridge; Anand Swaroop, NEI/NIH, Bethesda
Room 29, Upper Level, Convention Center Moderators: Yukinoki Okada, Tokyo Med and Dent Univ, Japan; Lisa Barcellos, UC Berkeley
383/4:30 Genome-wide analysis of mitochondrial single nucleotide polymorphism (mtSNP)nuclear SNP interaction in age-related macular degeneration. P. J. Persad, M. D. Courtenay, G. Wang, P. W. Gay, W. Cade, A. Agarwal, S. G. Schwartz, J. L. Kovach, M. A. Brantley, R. J. Sardell, J. N. Cooke Bailey, J. L. Haines, M. A. Pericak-Vance, W. K. Scott.
391/4:30 A trans-ethnic genome-wide association study of 21,483 cases and 97,977 controls identifies 27 genetic susceptibility variants for atopic dermatitis. L. Paternoster, M. Standl, H. Baurecht, J. Waage, M. Hotze, J. A. Curtin, K. Bønnelykke, D. Glass, D. A. Hinds, E. Melen, P. Sleiman, B. Feenstra, M. Pino-Yanes, H. T. den Dekker, M. Bustamante, I. Marenholz, B. Jacobsson, A. D. Irvine, A. C. Alves, M. M. Groen-Blokhuis, A. Franke, M. Ferreira, M. Tamari, N. Probst-Hensch, K. Williams, D. P. Strachan, S. J. Brown, J. Heinrich, D. M. Evans, S. Weidinger, on behalf of EAGLE Eczema Consortium.
384/4:45 Unravelling the complex genetics of agerelated macular degeneration — The International AMD Genomics Consortium. V. Cipriani, on behalf of International A M D Genomics Consortium. 385/5:00 Whole-genome sequencing study of ~6,000 samples for age-related macular degeneration. A. Kwong, X. Zhan, L. G. Fritsche, J. Bragg-Gresham, K. E. Branham, M. Othman, A. Boleda, L. Gieser, R. Ratnapriya, D. Stambolian, E. Y. Chew, A. Swaroop, G. Abecasis. 386/5:15 Examining the casual role of central corneal thickness in glaucoma: A Mendelian randomization approach. C. Y. Cheng, T. H. Tham, J. M. Liao, T. Y. Wong, T. Aung. 387/5:30 The role of rare TIMP3 mutations in age-related macular degeneration. L. G. Fritsche, International AMD Genomics Consortium. 388/5:45 High-throughput screening of 51 known causative genes in families with congenital cataract. S. Javadiyan, J. Craig, S. Sharma, K. Lower, K. Burdon. 389/6:00 Primary cilia mediate retinal development and photoreceptor homeostasis. C. Carter, A. Drack, Q. Zhang, N. Nuangchamnong, C. Searby, V. C. Sheffield.
393/5:00 Eight amino acid positions in five HLA class I and II genes explain the MHC association to type 1 diabetes risk. X. Hu, B. Han, S. OnengutGumuscu, W. Chen, A. J. Deutsche, T. L. Lenz, P. I. W. de Bakker, S. S. Rich, S. Raychaudhuri. 394/5:15 Increased risk of rheumatoid arthritis among shared epitope-negative mothers with shared epitope-positive children: Results from the mother-child immunogenetic study in autoimmunity. G. I. Cruz, L. A. Criswell, X. Shao, H. Quach, J. A. Noble, N. A. Patsopoulos, M. P. Busch, L. F. Barcellos. 395/5:30 Steroid-responsive genes play a major role in the genetic basis of sexual dimorphism in complex human disease. L. A. Weiss, K. M. Tsang, B. Adviento, K. A. Aldinger, H. Lee, K. Kim, R. J. Schmidt, S. F. Nelson, P. Levitt, D. G. Amaral, I. Hertz-Picciotto, C. Ladd-Acosta, M. D. Fallin, L. A. Croen, N. Zaitlen. 396/5:45 Functional characterization of a multiple sclerosis associated variant in IL7Ra. S. G. Gregory, G. Galarza-Muñoz, F. B. Briggs, L. Bergamaschi, S. Arvai, X. Shao, L. F. Barcellos, M. A. Garcia-Blanco. 397/6:00 UBE2L3 polymorphism amplifies NFkB activation and promotes B cell development linking linear ubiquitination to multiple autoimmune diseases. M. J. Lewis, S. Vyse, A. M. Shields, S. Boeltz, D. Leirer, P. A. Gordon, T. D. Spector, P. J. Lehner, H. Walczak, T. J. Vyse.
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390/6:15 Using zebrafish to assess novel therapeutics and model the eye disease of cblC disease. N. P. Achilly, J. L. Sloan, K. Bishop, M. S. Jones, R. Sood, C. P. Venditti.
392/4:45 Trans-ancestral ImmunoChip: SLE risk loci show enrichment for NK cytotoxicity and cell adhesion pathways. D. S. Cunninghame Graham, J. A. Kelly, C. D. Langefeld, R. R. Graham, P. M. Gaffney, T. J. Vyse, SLE ImmunoChip Consortium.
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Tuesday, October 21 4:30 PM–6:30 PM (SESSION 67, continued)
Tuesday, October 21 4:30 PM–6:30 PM Concurrent Platform Session E
398/6:15 A recombination allele of the lipase gene CEL and its pseudogene CELP encodes a hybrid protein and is a genetic risk factor for chronic pancreatitis. K. Fjeld, J. Rosendahl, J. M. Chen, D. Lasher, M. Cnop, B. B. Johansson, M. Ringdal, E. Masson, J. Mayerle, J. Mössner, C. Ruffert, S. Steine, E. Tjora, J. Torsvik, C. Ferec, F. U. Weiss, H. Witt, M. M. Lerch, P. R. Njølstad, S. Johansson, A. Molven.
68. Pharmacogenetics: From Association to Action Room 30, Upper Level, Convention Center Moderators: Bill Nyhan, UC San Diego; Cornelia Van Duijn, Erasmus MC, Rotterdam, Netherlands 399/4:30 Clozapine-induced agranulocytosis/ granulocytopenia is associated with rare HLADQB1 and HLA-B alleles. J. I. Goldstein, L. F. Jarskog, I. Cascorbi, M. Dettling, A. K. Malhotra, J. Nielsen, D. Rujescu, T. Werge, D. L. Levy, R. C. Josiassen, J. L. Kennedy, J. A. Lieberman, M. J. Daly, P. F. Sullivan, Clozapine Induced Agranulocytosis Consortium. 400/4:45 New susceptibility gene IKZF1 for cold medicine-related Stevens-Johnson syndrome/ toxic epidermal necrolysis with severe mucosal involvement. M. Ueta, H. Sawai, C. Sotozono, Y. Hitomi, N. Kaniwa, M.K. Kim, K.Y. Seo, K.C. Yoon, C.K. Joo, C. Kannabiran, T.H. Wakamatsu, V. Sangwan, V. Rathi, S. Basu, T. Ozeki, T. Mushiroda, E. Sugiyama, K. Maekawa, R. Nakamura, M. Aihara, K. Matsunaga, A. Sekine, J.A.P. Gomes, J. Hamuro, Y. Saito, M. Kubo, S. Kinoshita, K. Tokunaga. 401/5:00 Prospective participant selection and ranking to maximize actionable PGx variants and discovery in the eMERGE Network. D. Crosslin, A. Gordon, P. Robertson, D. Hanna, D. Carrell, A. Scrol, I. Kullo, M. de Andrade, E. Baldwin, J. Grafton, K. Doheny, P. Crane, R. Li, S. Stallings, S. Verma, J. Wallace, M. Ritchie, M. Dorschner, E. Larson, D. Nickerson, G. Jarvik, electronic Medical Records and Genomics (eMERGE) Network. 402/5:15 Real-time pharmacogenomics: Genetic factors impacting phenylephrine response during surgery. J. M. Jeff, T. Joesph, K. Slivinski, M. Yee, A. Owusu Obeng, S. B. Ellis, E. P. Bottinger, O. Gottesman, M. A. Levin, E. E. Kenny. 403/5:30 PGRN Network-wide Project: Transcriptome analysis of pharmacogenes in human tissues. C. E. French, A. Chhibber, E. R. Gamazon, S. W. Yee, X. Qin, E. Theusch, A. Webb, S. T. Weiss, M. W. Medina, E. G. Schuetz, A. L. George, R. M. Krauss, C. Q. Simmons, S. E. Scherer, N. J. Cox, K. M. Giacomini, S. E. Brenner. 404/5:45 Transcriptome prediction in relevant tissues reveals mechanisms of drug-induced peripheral neuropathy. H. E. Wheeler, B. P. Schneider, D. L. Kroetz, K. Owzar, D. L. Hertz, H. L. McLeod, E. R. Gamazon, K. P. Shah, K. D. Miller, G. W. Sledge, N. J. Cox, M. E. Dolan, H. K. Im.
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INVITED AND PLATFORM SESSIONS
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Tuesday, October 21 4:30 PM–6:30 PM (SESSION 68, continued)
405/6:00 Evidence for extensive pleiotropy among pharmacogenes. M. T. Oetjens, W. S. Bush, J. C. Denny, K. A. Birdwell, H. H. Dilks, S. A. Pendergrass, M. D. Ritchie, D. C. Crawford. 406/6:15 Identifying risk variants for dihydropyrimidine dehydrogenase deficiency using an isogenic system of expression. S. M. Offer, S. Shrestha, C. R. Jerde, R. B. Diasio.
INVITED AND PLATFORM SESSIONS Taking photographs or sound/audio recordings of speakers and slides in all meeting rooms is strictly prohibited. You agreed to this policy when registering for the meeting. Thank you for your cooperation.
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Wednesday, October 22 9:00 AM–11:00 AM Concurrent Invited Session II
Wednesday, October 22 9:00 AM–11:00 AM Concurrent Invited Session II
69. Circulating Cell-Free Nucleic Acids as Clinical Biomarkers
70. Genomic Medicine Case Conference: Illustrative Clinical Examples
Room 6AB, Upper Level, Convention Center Moderators: Glenn E. Palomaki, Women & Infants Hosp/Alpert Med Sch at Brown Univ, Providence; YMD Lo, Chinese Univ Hong Kong
Room 20D, Upper Level, Convention Center Moderators: Ian Krantz, Children’s Hosp, Philadelphia; Gail P. Jarvik, Univ Washington, Seattle
Circulating cell-free nucleic acids were reported in 1948, and by 1996 it was clear that cancer patients had tumor-specific DNA in circulation. In 1997, cellfree fetal DNA was identified in maternal circulation, and subsequent studies have found circulating RNA as well as micro RNA. With the advent of next-generation sequencing, circulating cell-free nucleic acids (ccfNA) have been explored as clinical biomarkers for a wide variety of clinical conditions such as fetal chromosomal or genetic disorders, cancer diagnosis/ prognosis, transplantation medicine and coronary heart disease. In this session, four disparate methods for testing and interpreting ccfNA biomarkers will be presented, for the four clinical conditions listed. 9:00 A M Sequencing circulating cell-free DNA in maternal plasma to identify Down syndrome. G. E. Palomaki. Women & Infants Hosp/Alpert Med Sch at Brown Univ, Providence. 9:30 A M Circulating cell-free DNA enables the non-invasive diagnosis of rejection and infection in organ transplantation. I. De Vlaminck. Stanford Univ, Palo Alto.
The advent of high-throughput and genomic medicine has abruptly changed clinical practice. We hope to provide an educational session that uses a case conference style to outline issues relevant to the clinical application of genomics. Each speaker will present 1-3 informative cases. Taken together, these cases will demonstrate facets that include the challenges of patient education and consent, variant interpretation and annotation, novel variant detection, incidental findings, incorporation of direct to consumer results, involvement of multiple medical specialists to evaluate patients and family members for manifestations of incidental findings, and other counseling issues. Each speaker’s talk will be limited to 15-20 minutes of the 30 minute block, to maximize discussion from the audience and the other speakers. The moderator will provide a very brief overview and introduce the speakers. 9:00 A M Variant interpretation challenges in WGS cases from the MedSeq Study. H. Rehm. Harvard Univ, Cambridge. 9:30 A M Genomic tests in pediatric patients. C. Eng. Baylor Col Med, Houston.
10:00 A M Circulating microRNAs as biomarkers for cardiovascular risk. A. Zampetaki. Kings Col London, London, United Kingdom.
10:00 A M Return of “actionable”, uncertain, and incidental findings in cancer. L. A. Garraway. Harvard Med Sch, Broad Inst, Boston.
10:30 A M Genome-wide plasma DNA sequencing as a universal approach for cancer detection. Y.M.D. Lo. Chinese Univ Hong Kong.
10:30 A M Cases demonstrating counseling issues in genomic medicine. L. Amendola. Univ Washington, Seattle.
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INVITED AND PLATFORM SESSIONS
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Wednesday, October 22 9:00 AM–11:00 AM Concurrent Invited Session II
Wednesday, October 22 9:00 AM–11:00 AM Concurrent Invited Session II
71. Genomic Variation: Interpreting the Uninterpreted
72. Genetics of Sleep and Circadian Disorders
Room 20A, Upper Level, Convention Center Moderator: Douglas M. Fowler, Univ Washington, Seattle
Room 30, Upper Level, Convention Center Moderators: Juliane Winkelmann, Stanford Univ, Palo Alto; Emmanuel Mignot, Stanford Ctr Sleep Sci and Med, Palo Alto
The advent of high-throughput DNA sequencing has revealed an immense amount of variation in human genomes. The use of exome and genome sequencing in the clinic and the proliferation of direct-to-consumer genetic testing has intensified the pressure to understand how variation impacts health and other traits. Adding to the challenge is the fact that much of the variation in the genome is rare or complex, making it difficult to interpret using associationbased methods. Consequently, new approaches for interpreting variation are being developed, and established methods are being improved. These methods are disparate, including model-based and high-throughput approaches for directly measuring the effects of variation and computational approaches that rely on inference. Each has strengths and weaknesses in terms of scale, accuracy and clinical relevance, but they are unified by a common goal: understanding the consequences of changes in the genome. This session seeks to bring together these disparate communities to explain how these methods are making inroads into variant interpretation, discuss the prospects for solving the variant interpretation problem on a genomic scale and stimulate a discussion on new ways to approach this critical problem. 9:00 A M Population and personal transcriptomics to elucidate disease mechanisms. E. Dermitzakis. Univ Geneva Med Sch, Geneva, Switzerland. 9:30 A M High-throughput screening for causal non-coding variants. T. Mikkelsen. Broad Inst, Cambridge. 10:00 A M Calibration of multiple in silico tools for predicting pathogenicity of unclassified variants in DNA repair pathway genes. S. V. Tavtigian. Univ Utah Sch Med, Salt Lake City.
This symposium will be focused on the genetics of sleep and circadian disorders, including common and rare sleep disorders. It will first cover current topics in human sleep genetics by providing examples of recent GWAS findings with consecutive resequencing of loci. We will specifically discuss how common non-coding variants contribute to gene regulation in particular cell types, and how this knowledge has changed our basic understanding of some sleep disorders. We will also discuss new findings demonstrating an important role for immunological genetics in sleep disorders, and will describe new developments in the design, content and complementation for exome sequencing that lead to these findings. Finally, we will review our current knowledge about the role of epigenetics of circadian rhythms, and the latest findings on epigenetic modification in mice. 9:00 A M Genetic predisposition, molecular mimicry to 2009 H1N1 influenza and resulting CD4+ T-cell autoimmunity towards hypocretin/orexin in narcolepsy. E. Mignot. Stanford Ctr Sleep Sci and Med, Palo Alto. 9:30 A M Genetics of restless legs syndrome. J. Winkelmann. Stanford Univ, Palo Alto. 10:00 A M Genetics of circadian disorders. L. J. Ptacek. Howard Hughes Med Inst., UCSF. 10:30 A M Transcriptional architecture and chromatin landscape of the circadian clock in mammals. J. S. Takahashi. Univ Texas Southwestern Med Ctr, Dallas.
Taking photographs or sound/audio recordings of speakers and slides in all meeting rooms is strictly prohibited. You agreed to this policy when registering for the meeting. Thank you for your cooperation.
INVITED AND PLATFORM SESSIONS
10:30 A M Sequence-function mapping to determine the impact of coding variation. D. M. Fowler. Univ Washington, Seattle.
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Wednesday, October 22 9:00 AM–11:00 AM Concurrent Invited Session II
Wednesday, October 22 9:00 AM–11:00 AM Concurrent Invited Session II
73. Heritability and Risk Prediction for Complex Traits: Regulatory Variants and Polygenic Models
74. Stakeholder Engagement in Genomics Policy Development: What Is It? Why Do It? How?
Room 20BC, Upper Level, Convention Center Moderators: Manolis Kellis, MIT / Broad Inst, Cambridge; Joel Hirschhorn, Harvard Med Sch, Boston
Room 29, Upper Level, Convention Center Moderators: Julie N. Harris, Kaiser Permanente, Oakland; Amy A. Lemke, Univ Washington, Seattle
9:30 A M Heritability of functional variant classes in schizophrenia and other traits: Regulatory elements explain more heritability than coding variants. A. Price. Harvard Sch Publ Hlth, Boston.
There has been a proliferation of national and international policies governing genomic data and clinical technologies over the past three years. Alongside this trend, there is also increasing recognition from the Institute of Medicine and other bodies that engaging key stakeholders in developing clinical and research policies is essential to creating sound, transparent, and trusted health policy. However, in practice, the process of stakeholder engagement is sometimes loosely defined, resulting in feedback of variable quality and utility, and there is lack of clarity on how feedback is incorporated. With the complex and evolving landscape of genomics, a re-examination of current methods for identifying and incorporating stakeholder voices in policy and guideline development is critical. Key questions to examine include: 1) Why and when is it important to engage key stakeholders in genomics policy issues? 2) What roles can stakeholders play in different stages of policy development? 3) What does stakeholder engagement mean to different groups such as clinicians, payors, and patients? 4) How do we practically engage diverse stakeholders in a cost-effective manner? In this session, we will present novel engagement models, and describe unresolved questions and challenges in stakeholder engagement and their implications for genomic policy-making. Topics include: methods for identifying, recruiting and involving stakeholders in policy debate, current issues and models for prioritizing and incorporating stakeholder data, and strategies for evaluating engagement processes.
10:00 A M Studies of Low Frequency Variation in Polygenic Disease and Traits. E. Zeggini. Wellcome Trust Sanger Inst, Hixton, UK.
9:00 A M Setting priorities for stakeholder engagement in genomics. W. Burke. Univ Washington, Seattle.
10:30 A M Explaining heritability and predicting risk with polygenic scores. F. Dudbridge. London Sch Hyg & Trop Med, UK.
9:30 A M Harnessing social networking to empower engagement. S. Terry. Genet Alliance, Washington, DC.
Heritability and risk prediction studies have revealed that the genetic architecture of many complex traits involves a very large number of variants of small effect. Although common variants jointly explain more than half of narrow-sense heritability, the source of their effects remains elusive. This can be remedied by exploiting genome-wide annotations of functional non-coding regions and partitioning heritability across different functional classes of regulatory elements. Moreover, regulatory networks linking regulatory variants to their likely target genes and the biological pathways that connect them can shed light on underlying disease mechanisms and inform association studies and fine-mapping. This session will discuss recent work in understanding the relative contribution of common SNPs vs. family history, exploiting epigenomics and regulatory genomics information to understand the role of regulatory information, partitioning the heritability of complex traits across genome annotation classes, and polygenic score heritability estimates and risk prediction. 9:00 A M Insights on complex disease architecture from epigenomics and regulatory genomics studies. M. Kellis. MIT / Broad Inst, Cambridge.
10:00 A M Participatory governance and public deliberative engagement for health and science policy. M. Burgess. Univ British Columbia, Kelowna, Canada. 10:30 A M Challenges and opportunities for stakeholder engagement: Strategies for incorporating public feedback into biobank policymaking. B. A. Koenig. UCSF Inst Hlth & Aging.
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INVITED AND PLATFORM SESSIONS
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Wednesday, October 22 9:00 AM–11:00 AM Concurrent Invited Session II
Wednesday, October 22 9:00 AM–11:00 AM Concurrent Invited Session II
75. Variation, Mutation, and Selection through the Lens of Regulatory Genomics
76. Viruses, Genomic Instability, and the Pathogenesis of Human Cancers
Room 6CF, Upper Level, Convention Center Moderators: Lucas D. Ward, MIT, Cambridge; Alexis Battle, Stanford Univ, Palo Alto
Room 6DE, Upper Level, Convention Center Moderator: David E. Symer, The Ohio State Univ, Columbus
Comparative studies have shown that the majority of sequence conserved across species is noncoding, and that evolutionarily constrained sequence is strongly enriched for regulatory elements defined by functional genomics. Experimental work also suggests that epigenetic state is a determinant of mutation rate variability across the genome. Both of these observations suggest that regulatory elements, including sequences that dictate chromatin state and gene expression, play a pivotal role in shaping the landscape of mutation and selection, resulting in the sequence diversity patterns we see across and within species. This noncoding selection acts on variation that is consequential to human health and disease. This session will highlight work in regulatory genomics that explores the relationship between natural sequence variation, chromatin state, expression, and selection.
For more than a century, researchers have studied how diverse viruses can cause cancers. Groundbreaking recent molecular genetics and genomics studies have dramatically shifted our understanding of the molecular mechanisms and consequences of such viruses in disrupting genetic pathways and causing genomic instability in human cancers. The presentations in this session will address the latest breakthroughs in genetics and genomics research, addressing how several types of viruses can cause human cancers, and conversely how genomic “safe harbors” may be defined in order to improve virusmediated gene therapy. Included in the session will be discussions of state-of-the-art research approaches using long-range genome sequencing methods, analysis of limiting numbers of cells, characterization of transcriptomes, identification of novel viral sequences, and the characterization of genomic cancer-free zones. Such advances have led to the discovery of novel viruses in cancers, and are driving current investigations into the biological and clinical significance of virus-associated genomic instability and the disruption of genetic pathways which contribute to cancer formation.
9:00 A M The impact of chromatin on mutation rate. P. Polak. Massachusetts Gen Hosp, Charlestown. 9:30 A M Recent purifying selection on enhancerassociated motifs. L. D. Ward. MIT, Cambridge. 10:00 A M Genetic control of chromatin state. G. McVicker. Dana-Farber Cancer Inst / Stanford Univ, Boston. 10:30 A M Mechanism and impact of regulatory genetic variation from chromatin state to protein expression. A. Battle. Stanford Univ, Palo Alto.
9:00 A M Human papillomavirus induces genomic instability and disrupts cancer-causing genes in human cancers. D. E. Symer. Ohio State Univ, Columbus. 9:30 A M New methods for haplotype resolution and the reconstruction of complex virusassociated cancer genomes. J. A. Shendure. Univ Washington, Seattle. 10:00 A M High resolution analysis of hepatitis B virus integration in the liver cancer genome. Z. Zhang. Peking Univ, Beijing, China.
Taking photographs or sound/audio recordings of speakers and slides in all meeting rooms is strictly prohibited. You agreed to this policy when registering for the meeting. Thank you for your cooperation.
INVITED AND PLATFORM SESSIONS
10:30 A M Virus-mediated gene therapy and the definition of cancer-free safe harbors in the human genome. F. D. Bushman. Univ Pennsylvania, Philadelphia.
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Wednesday, October 22 11:15 AM–12:30 PM 77. ASHG Membership/Business Meeting and Announcement of the C.W. Cotterman Award Winners and the Charles J. Epstein Trainee Awards for Excellence in Human Genetics Research Winners Room 20BC, Upper Level, Convention Center Reports highlighting current Society business will be presented. This is an opportunity for members to learn about recent ASHG activities and to provide suggestions to leaders. There will be a moment of silence for those members and colleagues we have lost in 2014. Discussion from the floor is encouraged. Announcement of the winners of the C.W. Cotterman Awards and the Charles J. Epstein Trainee Awards for Excellence in Human Genetics Research will be made at the start of the Business Meeting.
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POSTER SESSIONS
The program and abstract/poster board number next to each listing is followed by an S (Sunday), M (Monday), or T (Tuesday) to indicate the day on which authors must be present at their poster boards. Refer to the schedule below for presentation times and for the poster mounting/removal schedule. Poster Mounting and Removal Authors must put up and take down their posters according to the schedule below. Authors must be present at their boards based on their odd or even abstract/program/board number, and must remain at their boards for the duration of their scheduled presentation times. Posters should remain on the boards for all three days. Sunday, October 19 11:00 am-1:00 pm 11:00 am-7:00 pm 4:00 pm-6:00 pm
Monday, October 20 10:00 am-4:00 pm 2:00 pm-4:00 pm
Tuesday, October 21 10:00 am-4:00 pm 2:00 pm-4:00 pm
4:00 pm 4:00 pm-4:15 pm 4:15 pm
All poster authors (Sunday, Monday, and Tuesday) place posters on boards Posters available for general viewing Poster Session I (Sunday Authors Present) 4:00 pm-5:00 pm (odd poster board numbers; author must be present) 5:00 pm-6:00 pm (even poster board numbers; author must be present)
Posters available for general viewing Poster Session II (Monday Authors Present) 2:00 pm-3:00 pm (odd poster board numbers; author must be present) 3:00 pm-4:00 pm (even poster board numbers; author must be present)
Posters available for general viewing Poster Session III (Tuesday Authors Present) 2:00 pm-3:00 pm (odd poster board numbers; author must be present) 3:00 pm-4:00 pm (even poster board numbers; author must be present) Posters closed All authors remove posters from boards Exhibit Hall closed
IMPORTANT NOTE: For safety reasons, no registrant will be admitted into the Exhibit Hall or poster area for any reason before 11:00 am on Sunday or after 4:00 pm on Tuesday. No exceptions can be made to this policy. Do not leave materials or belongings under poster boards or in the poster area. ASHG is not responsible for any articles left in the poster area or any other area.
W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present
POSTER SESSIONS
Exhibit Hall, Ground Level
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POSTER WALKS Three posters from the topic areas listed below are being highlighted in poster walks led by a prominent scientist in the field. Registration for the poster walks was by advance registration only. The leader of each walk selected the posters based on abstract content and will provide context as well as will highlight some of the more significant and thought-provoking aspects of the research described in the posters. Poster authors are not required to be at their boards during the walks. Poster Walk I: Monday, October 20, 12:45 – 1:45 pm Epigenetics: Leader Haig Kazazian Poster #s: 437, 481, 489 Bioinformatics and Genomic Technology: Leader Ross Hardison Poster #s: 1387, 1492, 1651 Clinical Genetic Testing: Leader David Ledbetter Poster #s: 2442, 2577, 2580 Clinical Genetics and Dysmorphology: Leader Judy Hall Poster #s: 2769, 2772, 2781 Poster Walk II: Tuesday, October 21, 12:45 – 1:45 pm Statistical Genetics and Genetic Epidemiology: Leader Aravinda Chakravarti Poster #s: 1766, 1787, 1814 Metabolic Disorders: Leader David Valle Poster #s: 2267, 2279, 2297 Molecular Basis of Mendelian Disorders: Leader Lou Kunkel Poster #s: 2964, 2967, 3012 Ethical, Legal, Social, and Policy Issues in Genetics: Leader Wylie Burke Poster #s: 2339, 2347, 2353
Look for this symbol on the poster boards of authors selected.
CONGRATULATIONS TO THE POSTERS AUTHORS SELECTED See website for a list of authors.
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The program number and the abstract/poster board number are one and the same. It appears in bold print followed by the letter S (Sunday), M (Monday), or T (Tuesday). The title and first author’s name follow. Abstract/Poster Board Numbers Start #
Page Numbers
End #
Epigenetics
407
510
106
Genome Structure, Variation, and Function
511
678
109
Pharmacogenetics
679
741
114
Complex Traits and Polygenic Disorders
742
1119
116
Psychiatric Genetics, Neurogenetics, and Neurodegeneration
1120
1361
127
Bioinformatics and Genomic Technology
1362
1721
135
Statistical Genetics and Genetic Epidemiology
1722
1890
145
Evolutionary and Population Genetics
1891
2034
150
Cardiovascular Genetics
2035
2168
154
Therapy for Genetic Disorders
2169
2213
158
Metabolic Disorders
2214
2302
160
Genetics/Genomics Education
2303
2329
163
Ethical, Legal, Social, and Policy Issues in Genetics
2330
2383
163
Genetic Counseling
2384
2402
165
Health Services Research
2403
2419
166
Clinical Genetic Testing
2420
2599
166
Clinical Genetics and Dysmorphology
2600
2785
172
Prenatal, Perinatal, and Reproductive Genetics
2786
2865
177
Molecular Basis of Mendelian Disorders
2866
3128
180
Development
3129
3157
188
Cytogenetics
3158
3223
189
Cancer Genetics
3224
3509
191
POSTER SESSIONS
Session Topic/Title
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POSTER SESSIONS
Epigenetics 407M 5-hydroxymethylcytosine Dysregulation in Neurodegenerative Disorders. B. Yao. 408T Modeling DNA methylation dynamics with approaches from phylogenetics. J. Capra. 409M Genome-wide Methyl-seq analysis reveals changes in hypothalamic DNA methylation patterns in response to the enhanced maternal care paradigm. D. H. Yasui. 410T Whole blood DNA methylation changes are associated to malignant pleural mesothelioma. E. Casalone. 411M UHRF1 as an epigenetic regulator of CDH1 (E-cadherin) in human breast cancer cell invasion and metastasis. S. Y. Jang. 412T Analyses and characterization of adjacent CpG sites of TCGA BRCA HM450K methylation data. M. P. Lee. 413M Sports Related Concussions Induce DNA Methylation Changes in Immune Cell Trafficking and Cell Survival Pathways. H. Kim. 414T Genome-wide DNA methylation analyses identify loci influencing recurrent stroke risk in samples from the Vitamin Intervention for Stroke Prevention clinical trial. K. L. Keene. 415M Vitamin B deficiency and gestational programming of genes related to Alzheimer’s disease. V. C. Silva. 416T Global Methylation of Fracture Risk in a Cohort of Young African Americans with Forearm Fractures. C. Sprouse. 417M Whole-blood DNA methylation patterns and glycemic traits in the KORA F4 study. J. Kriebel. 418T The effect of fertility treatments on differential DNA methylation in autism spectrum disorder. M. T. Siu. 419M Distinct Patterns of DNA Methylation in Labial Salivary Gland Tissue Based on Sjögren’s Syndrome Disease Status. M. B. Cole.
422T Applying the Infinium HumanMethylation450 BeadChip assay to archival formalin-fixed paraffin embedded material for large epidemiological studies. E. M. Wong. 423M Allele-specific distribution of 5-hydroxymethylcytosine at imprinting control regions. K. Yamazawa. 424T Obesity accelerates epigenetic aging of human liver. J. E. Hampe. 425M Epigenome-wide association study to identify new biomarkers for heart failure. U. Afzal. 426T X chromosome dosage may cause epigenetic sex differences in asthma region 17q12-q21. A. Altuwaijri. 427M Epigenome-wide DNA methylation and body mass index in monozygotic twins. J. T. Bell. 428T DNA-methylation and the Down Syndrome phenotype. A. Bouman. 429M Low-input Detection of Whole Genome Hydroxymethylation. J. Burgess. 430T Full resolution DNA methylome analysis in multiple tissues from twins. S. Busche. 431M Monoamine oxidase A (MAOA) expression level predicts alcohol consumption in Rhesus macaques. R. P. Cervera Juanes. 432T Genome-wide DNA methylation study in American Indians identifies five genes associated with intrauterine diabetes exposure. P. Chen. 433M DNA enrichment as a cost effective tool to examine DNA methylation at single nucleotide resolution. A. Czyz. 434T Genapha/dbASM: web based tools to investigate allele-specific methylation. D. Daley. 435M DNA Methylome Modifications Associated with HPA Axis Differences in Chronic Fatigue Syndrome. W. C. de Vega. 436T Smoking Associated DNA Methylation Changes in Peripheral Blood Mononuclear Cells from African American Women and Weighted Protein-Protein Interaction Networks. M. V. Dogan.
420T Age and aging dependent epigenetic drift in Danish twins. Q. Tan.
437M Epigenome-wide meta-analysis of over 10,000 individuals reveals extensive perturbations in DNA methylation associated with adiposity. A. W. Drong.
421M Differentially co-methylated genes in postmortem prefrontal cortex of individuals with alcohol use disorders. H. Zhang.
438T Hypomethylation of Synaptic Genes revealed in Dup15q Autism. K. Dunaway. 439M Genome-wide DNA methylation study identifies genes associated with GDF-15 levels. W. E. Ek.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS
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457M DNA methylation of lipid-related genes affects blood lipid levels: a genome-wide screen. L. Pfeiffer.
441M Identification of epigenetic signatures of childhood socioeconomic-related adversity. S. J. Goodman.
458T The Genome Wide DNA Methylation Signature of Subjects as They Enter and Exit Short Term Alcohol Treatment. R. Philibert.
442T Methylation patterns are associated with chronological age in the Khomani San of South Africa. S. Gopalan.
459M genome wide analysis to find epigenetically inactivated regions associated with Thyroid hormones - A population based crosssectional study. R. Rawal.
443M Characterizing a genomic map of 5-hydroxymethylcytosine in human brain at single base resolution through next-generation sequencing. J. Gross.
460T DNA methylation profiles that distinguish rheumatoid arthritis (RA) from osteoarthritis in fibroblast-like synoviocytes can be detected in immune cells from peripheral blood. B. Rhead.
444T Global DNA hypermethylation is associated with increased myopia risk. E. Hsi.
461M Epigenome-wide analysis identified highly significant age-related DNA methylation changes. A. Russo.
445M Micoarray approach reveals the differentially methylated regions as potential epigenetic markers in preeclampsia. H. J. KIM.
462T Characterizing Functional Methylomes in Human Populations Using Novel Next-Generation Capture Sequencing Approach. X. Shao.
446T Quantification of the placental epigenetic signature of the maspin gene in maternal plasma of pregnancies complicated by small for gestational age. S. Y. Kim.
463M Facioscapulohumeral muscular dystrophy 2 (FSHD2) testing - a UK pilot study and a clinical diagnostic service. D. J. Smith.
447M Methylation levels in peripheral blood may reflect central mechanisms mediating GxE associations with cardiovascular outcomes. L. C. Kwee.
464T Sex specific epigenetic and transcriptional responses of peripheral blood leukocytes (PBLs) to lipopolysaccharide (LPS). M. Stein.
448T Genome-wide Association Study of DNAmethylation identifies 9.8 million SNP-methylation associations and provides insight into global regulatory pathways. B. Lehne.
465M CpG Methylation and G-quadruplex structure influence genotyping of the imprinted MEST gene promoter. A. J. Stevens.
449M Birth weight and DNA methylation. S. Li. 450T Maternal age-related changes in DNA methylation in newborns and adults. C. A. Markunas. 451M Genetic control of the human blood methylome. J. L. McClay. 452T DNA methylation profiles of ten patients with Attention deficit hyperactivity disorder: a proof-ofprinciple study. C. Milani. 453M Age-related DNA methylation profiling in CD4 and CD8 T-cells reveals changes in infectionassociated and lineage regulator genes. L. Milani. 454T Influence of maternal nutrition on ancestrydependent gene methylation in newborns. K. Mozhui. 455M Self-report is a valid measure of maternal smoking during pregnancy and its epigenetic effects are modified by local (cis) genomic ancestry. S. S. Oh. 456T Schizophrenia EWAS Supports Findings of GWAS. A. P. S. Ori.
466T Dose-dependent changes in DNA methylation identified in Williams syndrome and the reciprocal 7q11.23 duplication syndrome. E. Strong. 467M Race-specific association between DNA methylation and body mass index: the Bogalusa Heart Study. D. Sun. 468T Genome-wide association scans identify differentially methylated and expressed regions related to smoking in adipose tissue. P.-C. Tsai. 469M Downstream analyses and Mendelian randomization study on methylome-wide associations with BMI reveal biological pathways underlying obesity and related metabolic consequences. S. Wahl. 470T Epigenome-wide association study identifies epigenetic markers for asthma and allergic disease in the MeDALL study. C. J. Xu. 471M Epigenome-wide DNA methylation changes in blood from infants with facial clefts in the Norway Facial Clefts Study. Z. Xu. 472T Multiplexed and Quantitative DNA Methylation Analysis Using Long-Read Single-Molecule Real-Time (SMRT) Bisulfite Sequencing. Y. Yang.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS
440T Black-white difference in regional patterns of DNA methylation: the Bogalusa Heart Study. X. Fu.
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473M DNA methylation in preeclamptic versus normotensive placentas. K. R. Yeung. 474T Analysis of DNA methylation by 450K BeadChip to characterize effects of early life exposures in children. P. Yousefi. 475M Comparing Statistical Methods for Differential Methylation Identification Using Bisulfite Sequencing Data. X. Yu. 476T Potential susceptibility factors of congenital heart disease identified by epigenome-wide association study of placenta. C. Zeng. 477M An epigenetic map of age-associated autosomal loci in Northern European families at high risk for the Metabolic Syndrome. Y. Zhang. 478T A microRNA self-regulatory network in testicular germ cell tumor. W. Chan.
490T Random monoallelic expression in neural stem cells, induced pluripotent stem cells and neural committed cells. A. R. Jeffries. 491M Somatic and genetic variations in regulatory regions revealing discordance between monozygotic twins. K. Kim. 492T Deciphering the role of DNA methylation in osteoporosis using MeDIP-seq: A twin-based study design. J. A. Morris. 493M Epigenome-wide association study of sexual orientation in monozygotic twins. T. C. Ngun. 494T Genes that escape from X inactivation vary in mouse tissues. C. Disteche. 495M Male Rett syndrome: Clinical profiling and insights into epigenomics. J. Duis.
479M Genetic and epigenetic control of regulation of miR-9 expression by alcohol. A. Pietrzykowski.
496T Examining Escape from X Chromosome Inactivation and Sex-Differential Gene Expression. P. G. Bronson.
480T DNA methylation patterns of specific L1 loci on the short arm of chromosome 21. S. Tincher.
497M Placental microRNAs as potential biomarkers for noninvasive detection of trisomy 21. H. M. Ryu.
481M Inter-individual Variation in Epigenetic Susceptibility to D4Z4 Chromatin Relaxation Explains Clinical Variability in FSHD1 and FSHD2. R. J. L. F. Lemmers.
498T Detection of in vivo G-quadruplex structure of the ANXA5 promoter that contributes to the recurrent pregnancy loss. H. Inagaki.
482T Identification of tumor supressor genes modulated by histone acetylation in gastric cancer. F. Wisnieski. 483M KDM5C SINEUP activates an epigenetic path damaged in XLID/Epilepsy diseases. L. Poeta. 484T The impact of antisense transcription on epigenetic signals. C. Wadelius. 485M Methylation analysis and diagnostics of Beckwith-Wiedemann syndrome in 1000 subjects. A. Ibrahim. 486T Identification of imprinted 4q35 variant associated with the combined asthma-plus-rhinitis phenotype using both genetic and epigenetic data. C. Sarnowski.
499M An epigenetically regulated expression-variable class of genes depleted in neurodevelopmental CNVs. A. Gimelbrant. 500T Defining the role of CGGBP1 protein in FMR1 gene expression. M. Goracci. 501M Epigenomic Analysis for Single Cells and Small Quantities of Cells. X. Pan. 502T RNA-Seq revealed canonical RNA editing in mouse retina with laser-induced choroidal neovascularization. J. Chen. 503M The influence of Microvesicles carrying microRNA on cross talk between FOXP3 and EZH2 in multiple sclerosis. A. Hossein-nezhad. 504T Analysis of miRNAs in MELAS mutant cells. R. Li.
487M Prediction of imprinted genes based on the genome-wide methylation analysis. N. Tšernikova.
505M Genome-wide microRNA expression profiling in fetal trisomy 21 placenta. J. H. Lim.
488T Characterizing the processing, localization, and function of Snord116 noncoding RNAs at the PraderWilli locus. R. Coulson.
506T Regulation of COL1A1 by miRNAs in scleral fibroblasts: Implications for myopia control. R. Metlapally.
489M Evolutionarily-conserved Imprinting Between Mouse and Human Orthologs Identified 17 Novel Candidate Genes for Human Imprinting Disorders. E. J. Bhoj.
507M Human neural stem dell in the form of neurosphere: microRNA expression profile. M. Palacios-Reyes.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS
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523S Studies on the function of HCMV-encoded essential gene UL49. H. LI.
509M Integrative analysis reveals enhanced regulatory effects of human large intergenic noncoding RNAs in lung adenocarcinoma. X. Kong.
524M Deep genetic, transcriptomic and epigenetic maps of human blood elements. L. Chen.
510T A Neuroepigenomic Model of the Fetal Alcohol Exposure Spectrum. B. I. Laufer.
525T Analysis of monoallelic expression in human individual cells revealed novel imprinting genes. F. Santoni.
Genome Structure, Variation and Function
526S Somatic Rhodopsin transcriptional repression by artificial DNA-binding proteins targeted to cisregulatory elements. S. Botta.
511S Allele-aware ChIP-seq alignments identify allelic differences in transcription factor binding at diseaseassociated loci. M. L. Buchkovich. 512M Functional genomics approaches reveal novel role of a key hematopoietic transcription factor in blood disorders. M. Byrska-Bishop. 513T Identifying rare, non-coding DNA variants in Systemic Lupus Erythematosus. S. J. White. 514S Coordinated Regulatory Variation Associated with Maternal Glycemic Traits Regulates HKDC1 Expression. T. E. Reddy. 515M HyCCAPP for functional proteomic analysis of promoter variants associated with plasma lipid levels and gene expression in Mexican Americans. H. Guillen Ahlers. 516T Single cell allele specific expression (ASE) in Down syndrome and common aneuploidies. G. Stamoulis. 517S Analysis of long-range interactions in primary human cells reveals CFTR new regulatory elements. S. Moisan. 518M Assessing the functional significance of disease-associated cis-regulatory variants in vivo using a versatile dual colour transgenesis strategy in zebrafish. S. Bhatia. 519T Systemic Lupus Erythematosus-associated functional variants influence the gene expression of UBE2L3 through the regulation of promoter and enhancer activities. S. Wang. 520S Comparative genomics and abstraction of DNA sequences allow the identification of cis-regulatory signatures. P.EM. Guimaraes. 521M Detecting gene-by-environment interactions using allele specific expression. D. A. Knowles. 522T An investigation of the correlation between cis-genetic and environmental factors regulating gene expression between cell types, exposures, and populations. N. Zaitlen.
527M Epigenetic promoter silencing in Friedreich ataxia is dependent on the length of the GAA tripletrepeat mutation. Y. Chutake. 528T Characterizing the predictive features of regulatory genetic variants. N. M. Ioannidis. 529S Characterization of enhancer gene interactions using DNaseI and gene expression data across 110 cell types. P. Kheradpour. 530M Allele-specific gene expression analysis of RNA-seq data in 471 healthy prostate tissue samples identifies extensive aseQTLs in the human prostate transcriptome. N. B. Larson. 531T Uncovering SMCHD1 regulation of the Protocadherin Cluster. A. G. Mason. 532S Allelic expression in single human primary fibroblasts. C. Borel. 533M Exploring the Human Genome for Functional, Non-Coding Variation: Implications for Diseases of the Peripheral Nerve. W. Law. 534T Sex-specific Association of Alu Retrotransposons with Gene Expression. S. Linker. 535S MicroRNA Expression, APOE and TOMM40. L. M. Bekris. 536M Gene silencing mediated by endogenous miRNAs under heat stress conditions in mammalian cells. M. Fukuoka. 537T MicroRNA profiling of human lymphoblastoid, iPS and neural stem cell lines shows overlapping but distinct expression patterns. S. Kumar. 538S The AGO3 Slicer controls the dynamic mitochondria-nuage localization of Armitage and contributes to piRNA biogenesis. Y. Li. 539M The functional role of lncRNAs in breast tissuespecific gene regulation. E. Wagner. 540T Genome-wide discovery of tissue specific properties of human small non-coding RNAs. Y. Y. Leung.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS
508T Epigenetic factors regulating DUX4 expression in muscle cells. J. Balog.
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541S A tissue-specific lincRNA in the TRAF1-C5 risk locus as a putative cis-regulator bridging genetics and disease. T. Messemaker. 542M Conservation and Novel Functions of Noncoding RNAs. T. R. Gingeras. 543T The landscape of retrotransposon expression in human lung adenocarcinomas. A. Biton. 544S Overexpression of the FMR1 mRNA in premutation carriers is isoform specific. C. Yrigollen. 545M High throughput identification of exonic sequence variation that exhibits allelic imbalance in RNA splicing. R. Soemedi. 546T Impact of microRNA binding site polymorphisms on gene expression variation. T. Annilo. 547S High-Resolution Genomic Analysis of Human Mitochondrial RNA Sequence Variation Reveals Genetic Determinants of Post-transcriptional Modification and Interplay with the Nuclear Genome. A. Hodgkinson. 548M RCARE: RNA-Sequence Comparison and Annotation for RNA Editing. SY. LEE.
557M Analysis of Genome-Wide RNA-Sequencing Data Reveals Age of the CEPH/Utah (CEU) Lymphoblastoid Cell Lines Systematically Biases Gene Expression Profiles. Y. Yuan. 558T Transcriptome analyzes in human corneas derived from keratoconus and control individuals from Poland. M. Gajecka. 559S Defining tissue compartment gene expression dysregulation in asthma by multi-tissue whole transcriptome sequencing. A. Wesolowska-Andersen. 560M Identification of Gene Expression Signatures in Alopecia Areata. J. Cerise. 561T Dynamic Transcriptome Changes in Cell-free Synovial Fluid following Meniscal Injury Suggests the Potential for Early Intervention. D. D. Vance. 562S Defining the transcriptional landscape of microRNAs in human peripheral blood. G. HemmrichStanisak. 563M Systematic Analysis of Age and Sex Effect Identified Different Behaviors between Coding and Non-coding Genes and Two Age-dependent Patterns of Gene Expression. M. Narahara.
549T The RNA Editing Landscape in Acute Myeloid Leukemia. E. Meduri.
564T Whole Transcriptome Sequencing in Alzheimer’s Disease Reveals Gene Expression Differences Related To ;.-ʹ Pathway. K. Nho.
550S Global identification of binding sites for the splicing regulatory factors SRSF5 and hnRNPA1. G. H. Bruun.
565S Predictive Gene Markers of Multipotent Stromal Cell Proliferation. I. H. Bellayr.
551M Recursive splicing: a novel regulatory mechanism in the human brain that contributes to the processing of long genes. W. A. Emmett. 552T Complex alternative splicing patterns in human hematopoietic cell subpopulations revealed by thirdgeneration long reads. A. Deslattes Mays. 553S Analysis of the expression levels of chitinase-like proteins, Ym1, Ym2 and breast regression protein-39, in mouse tissues. M. Ohno. 554M Cross-species gene expression analysis of chitinase-like proteins with mammalian chitinases using qPCR in mouse and human tissues. F. Oyama. 555T Transcriptome Profiling of Gamma Secretase Inhibition in Breast and Ovarian Cancer Cells. A. Mannermaa. 556S Understanding cellular heterogeneity of pancreatic islets of Langerhans using single-cell RNAseq. M. Garieri.
566M Transcriptome applied to a bloom’s syndrome: immunological insigths. M. M. Montenegro. 567T Significant transcriptional changes in 15q duplication but not Angelman syndrome deletion dental pulp stem cell derived neurons. L. Reiter. 568S Viral RNA detection with RNA-Seq using capture technology. S. M. Gross. 569M Identifying conserved genomic responses to inflammation in vascular endothelial cells. L. Antounians. 570T Transcriptional and Epigenetic Landscape of Megakaryocytes derived from Human Induced Pluripotent Stem Cells. L. J. Vasquez. 571S BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies. P. L. Tan. 572M Association study of the Human Leukocyte Antigen-G and gallstone disease in Han Chinese. H. Yang.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS 573T Structural Variation Analysis Using Nanochannel Genome Mapping to Evaluate Genome Integrity after Induction of Pluripotency of Human Fibroblasts. E. H. Cho.
575M Characterizing gut microbiota variation across diverse rural African populations. M. E. B. Hansen. 576T Interactions between host genetics and diet affect gut microbiota and influence metabolic traits in mouse and human. E. Org.
590M Deletions of Regulatory Boundaries are Associated with Congenital Disease. M. Spielmann. 591T Sensitive and efficient analysis of somatic mosaicism using genomewide SNP arrays and haplotypes. S. Vattathil. 592S Monozygotic Twin Pairs: CNV and sequence concordance. A. Abdellaoui. 593M Even and odd: defining the structure of variation at the human amylase CNVs. J. A. L. Armour. 594T Genome-wide analysis of copy number variants and their association with kidney transplantation outcomes. L. Bassaganyas.
577S Drosophila fragile X mental retardation protein is associated with chromatin and regulates replication stress-induced DNA damage response. Y. Cheng.
595S Inverted repeats mediate complex genomic rearrangements including quadruplication. C. R. Beck.
578M Impact of Structural Variants on the threedimensional multi-scale chromatin conformation of the human genome. D. Plewczynski.
596M Deciphering the complex effect of the 16p11.2 duplication using large family-based cohorts. W. K. Chung.
579T Higher order chromatin structure and CFTR gene regulation: roles of cis-regulatory elements and CTCF/ cohesin complex. R. Yang.
597T Population genetics and mutation analysis of an exceptionally copy number variable sperm gene. A. Davis.
580S The Chromatin Architecture of a Haploid Human Cell Line. D. A. Cusanovich.
598S Functional Effects of Copy Number Variant Junctions. K. Dumas.
581M A Computational Pipeline for Characterization, Identification, and Significance Analysis of the Somatic Copy Number Variations from Genome Sequencing Datasets. A. Harmanci.
599M Identifying Population-Specific Structural Variation in Human Blood Group Genes. K. Fox.
582T Method for classifying candidate structural variants into true positives and false positives. H. Parikh. 583S Genomic CNVs can cause sudden infant death syndrome (SIDS). A. Pfeufer. 584M In vivo dissection, causality identification, and network analysis of copy number variants associated with autism spectrum disorders. C. Golzio. 585T Increased relative mitochondrial DNA content in Keratoconus patients. A. Kondkar. 586S Structural haplotypes of the human amylase locus and their relationship to obesity. C. L. Usher. 587M Constitutional chromothripsis: A novel phenomenon in congenital disorders. A. Alhariri. 588T End-point zygosity and CNV determination from crude samples. C. Liu. 589S Sequencing the genomes of single cells. P. Ribaux.
600T Characterization of Copy Number Variation and Loss of Heterozygosity Using high resolution SNP MicroArray -The Miami Experience. G. Ghaffari. 601S The role of the genomic architecture of transposable elements in the formation of copy number variants: evidence from one schizophrenia family. G. Guffanti. 602M De novo Germline Variants from WGS of Autism Spectrum Disorder Trios. M. Gujral. 603T Multi-allelic copy number variation humans. R. Handsaker. 604S Comparative performance analysis of highresolution, genome-wide array platforms for copy number variation detection. R. R. Haraksingh. 605M Discovering Copy Number Variations in ClinSeq®: A Large-Scale Whole Exome Sequencing Study. C. S. Hong. 606T Optimization of a High-Throughput, Costeffective, Reliable Method for Large-Scale Screening of CNVs at Candidate Loci using qPCR. C. Kao.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS
574S An exercise filled lifestyle may alter the gut metagenome exposed to polychlorinated biphenyl. E. Rampersaud.
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607S SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpoints. H. Kehrer-Sawatzki. 608M Genome-wide association study of copy number variation with hematological traits using family-based Samples. B. Kim. 609T Comprehensive analysis of large structural variants in well-characterized human genomes. E. Lam. 610S Estimating the parental haplotype source of germline-transmitted de novo duplications. Y. Liu. 611M Copy number variants identified in Japanese women. O. Migita. 612T Rare large CNVs are associated with intellectual disability, education level, and female fertility in general population. K. Männik. 613S The impact of smaller CNVs and inherited genedisruptive SNVs in sporadic autism. T. Turner.
625S The role of the host genetic variability in the influenza-A virus susceptibility. A. C. Arcanjo Silva. 626M The European Genome-phenome Archive (EGA) as a federated effort to provide secure global access to genome and phenotype data for hundreds of thousands of samples. I. Lappalainen. 627T Integrative Japanese Genome Variation Database from the cohort study of Tohoku Medical Megabank Organization (ToMMo). Y. Yamaguchi-Kabata. 628S Complete haplotypes of the human light chain immunoglobulin loci from a hydatidiform mole BAC library provide insights into locus-specific signatures of genetic diversity. K. Meltz Steinberg. 629M Defining Variation Sensitive Regions in Genes Associated with Hearing Loss. A. N. Abou Tayoun. 630T Deep targeted sequencing of SLE associated LD blocks reveals multiple putatively functional variations in strong LD with SLE GWA SNPs: A haplotype based assessment of disease risk. P. Raj.
614M Somatic Copy Number Variation at Birth. A. Valind.
631S Mutation characteristics in families with two or more siblings with Autism Spectrum Disorder. R. K. C. Yuen.
615T Complex structural variant in a family with Autism Spectrum Disorder discovered by whole genome sequencing. S. Walker.
632M Identifying candidate genes and domains for X-linked diseases using population exome data. X. Ge.
616S Genome-wide copy number variants analysis identifies deletion variants associated with ankylosing spondylitis. S. Yim. 617M Correction of artefacts in estimation of rare copy number variants for analyses of burden and association in type 1 diabetes. N. J. Cooper. 618T The structural architecture of SNP effects on complex traits. L. Davis. 619S Genetic variation in introns that flank alternatively spliced exons: A new way to look for disease-related variants. A. Neininger. 620M Expression of human acidic mammalian chitinase in Escherichia coli and analysis of its properties. K. Okawa. 621T Beyond the 1000 Genomes Project. L. Clarke. 622S Empirical and computational survey of functional regulatory genetic variants. G. A. Moyerbrailean. 623M The success of whole exome sequencing diagnosis in a large cohort of patients with Mendelian disorders. T. Roscioli. 624T Identifying tagging SNPs for African specific variation from the African Diaspora Genome. H. R. Johnston.
633T A15924G mt-tRNAT Gene Mutation is not the Primary Cause of Mitochondrial Myopathies. A. Cakiris. 634S A Mouse Mutagenesis Scheme to Isolate Lethal X-Linked Recessive Mutations. F. J. Probst. 635M The relative impact of DNA mutation and RNA editing as sources of somatic sequence variation in the transcriptomes of normal adult tissues. D. Conrad. 636T Distinct variation in the LILRB3 and LILRA6 genes encoding a myeloid inhibitory and activating receptor pair. A. Bashirova. 637S Finding effectively neutral sequence in the presence of coding and noncoding conserved elements. A. E. Woerner. 638M The associations of multiple genes with systemic sclerosis by next generation sequence technology. H. Li. 639T Evolutionary constraint and disease associations of post-translational signaling sites in human genomes. J. Reimand. 640S Genetic analysis of dendritic cell responses to influenza using RNA sequencing reveals novel genotype by stimulation effects on alternative splicing. C. J. Ye.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS 641M Expression quantitative trait analysis in human platelets. L. Simon.
643S Ttn as a likely causal gene for QTL of alcohol preference on mouse chromosome 2. L. Wang. 644M Cross-population Meta-analysis of eQTLs: Finemapping and Functional Study. X. Wen. 645T Linking systems genetics and co-expression analysis to elucidate diabetic kidney disease regulatory networks. T. Leak. 646S Mediation analysis identifies causal relationships among SNPs, cis-CpG methylation, and cis- and transtranscripts. B. Pierce. 647M Characterizing the genetic basis of innate immune response in TLR4-activated human monocytes. S. Kim. 648T Analysis of genetic and environmental determinants of gene expression. F. Luca. 649S Identification of novel trans-acting eQTLs at SLC25A38-MYRIP-EIF1B and CIITA in subcutaneous adipose tissue. Y. Wu. 650M Long intergenic non-coding RNA eQTLs are enriched for complex trait-associated SNPs and do not distally regulate the expression of protein-coding genes. I. McDowell. 651T Massively parallel identification of non-coding causal alleles driving genetic associations. R. Tewhey. 652S Uncovering expression variability and eQTLs on the X chromosome. K. Kukurba. 653M Universal eQTL: discovery and replication across cell type and population. S. A. Shenoy. 654T Sex-biased genetic effects on the transcriptome of monocytes and T-cells. N. L. Tignor. 655S ERAL1 Stabilization of miRNA: A Novel Regulatory Mechanism of Gene Expression. K. AquinoMichaels. 656M Genome-wide Identification of microRNA Expression Quantitative Trait Loci in the Framingham Heart Study. T. Huan.
659M Quantifying Context Specificity of Gene Regulation using Predicted Gene Expression Levels. S. V. Mozaffari. 660T Genetic architecture of the transcriptome of four tissues in a twin cohort. A. Buil. 661S Genome-Wide Analysis of Expression Short Tandem Repeats. M. Gymrek. 662M Cross-platform validation and cross-tissue activity of expression quantitative trait loci (eQTL). A. J. Jasinska. 663T Transcriptome sequencing of a large human family identifies the impact of rare non-coding variants. X. Li. 664S Allele specific expression and eQTL in diploid genomes. S. C. Munger. 665M An integrated framework for evaluating the pathogenicity of rare, population-specific non-coding variation. Z. Zappala. 666T Modeling uncertainty in RNA-seq analysis: Beyond differential expression. G. E. Hoffman. 667S Meta-Analysis of Liver eQTL Studies and Crosstissue eQTL Comparison using GTEx Data. E. L. Seiser. 668M Functional mapping of eQTL signals for prostate cancer risk SNPs. L. Tillmans. 669T Sex-specific genetic architecture of the transcriptome. E. R. Gamazon. 670S Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis. M. Kousi. 671M High-resolution personal genome-wide maps of meiotic double-strand breaks in humans. F. Pratto. 672T Investigating the maternal age effect on meiotic recombination in multiple cohorts. H. C. Martin. 673S Mapping of two neurogenetic disorder genomes with a single molecule nanochannel array platform for genome-wide structural variation analysis. Y. Y. Y. Lai. 674M Association study of COL11A2 with aspirin exacerbated respiratory disease and its FEV1 decline. J. Kim.
657T Dissecting the genetic regulation of exosome RNA cargo in a large family. E. K. Tsang.
675T Bovine animal model for spermatic and scrotal alterations: additional clues for an X-chromosome component. P. A. S. Fonseca.
658S Analysis of hypothalamus transcriptome and proteome in 100 strains of mice on high fat diet. Y. Hasin.
676S De novo genome assembly and structural variations detection by genome mapping on nanochannel arrays. A. C. Y. Mak.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS
642T Accurate and fast multiple testing correction to identify eGenes in eQTL studies. J. Sul.
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677M An integrated platform for the collection of biospecimens to support the Genotype-Tissue Expression (GTEx) Project. JC. Keen. 678T Functional characterization of recent single nucleotide mutations on HSPA1A, a human Hsp70 gene. K. Hess.
692M Association study of polycystic ovary syndrome with two single nucleotide polymorphism of follicle stimulating hormone receptor in Iranian patients: rs1394205 and rs6166. B. Dehghan Banadaki. 693S In Vitro system to assess functional impact of heterozygous variants and complex combinations of variants in dihydropyrimidine dehydrogenase. C. R. Jerde.
Pharmacogenetics 679S Impact of genetic polymorphisms in FADS1, FADS2, and FADS3 genes on fatty acid metabolic mechanism on methadone therapy in Taiwan. R. Wang. 680M Drug Metabolizing Enzyme and Transporter Gene Variation, Nicotine Metabolism, and Cigarette Consumption. A. W. Bergen. 681S Genetic variation in glutamate signaling influences response to cognitive behavioral therapy in pediatric anxiety. C. G. Bhat. 682M Clinical and pharmacogenomic features of cisplatin-induced ototoxicity in Asian nasopharyngeal carcinoma patients. S. L. Chan. 683S Genetic moderators of treatment response to dexmethylphenidate in children and adolescents with ADHD. S. N. Chang. 684M Genetic vulnerability to adverse child attachment quality and stress reactivity. E. H. Gail. 685S Genetic variation in mitochondrial pore protein ANT1 predicts antipsychotic-induced weight gain in the NIMH RUPP Autism sample. K. J. Hwang. 686M The application of personalized medicine for understanding clinical variability in rasagiline response in early Parkinson’s Disease. J. Knight. 687S Evaluation of candidate gene SNPs in the International Clopidogrel Pharmacogenomics Consortium (ICPC) reveals genetic variation that significantly impacts on-treatment platelet reactivity. J. Lewis. 688M Genetic variation in the oxytocin/vasopressin locus is associated with treatment-dependent improvement in social functioning in autism spectrum disorder. W. Li. 689S Genetic variation in dopaminergic and adrenergic receptor targets moderates weight loss during ADHD treatment. N. A. Nguyen. 690M Differential genetic effects of the melanocortin system in antipsychotic-induced weight gain in children versus adults. A. K. Subhash.
694M In silico gene expression results enhance understanding of association studies. L. Li. 695S Mapping histone modifications provides novel insights in pharmacogenomic discovery. C. Liu. 696M Gene Expression Based Models for Cancer Drug Sensitivity. U. Ozbek. 697S Statin-induced expression change of INSIG1 in lymphoblastoid cell lines is correlated with plasma triglyceride statin response in men. E. Theusch. 698M Accelerating Drug Development with 23andMe Phenome-Wide Association Studies. F. Sathirapongsasuti. 699S Association of C677T polymorphism of the MTHFR gene with toxicity in breast cancer patients treated with FEC chemotherapy. A. Ramos-Silva. 700M Integration of Genetics into Clinical Development. D. Waterworth. 701S A genome-wide association study on antipsychotic-induced body weight gain dissecting the CATIE sample. M. Maciukiewicz. 702M Genome-wide association study of resistant hypertension in INVEST. N. El Rouby. 703S Identification of nonresponders through the use of EMRs identifies MSRA as a potential controller of response of asthmatics to inhaled corticosteroids. M. E. March. 704M A genome-wide association study of hepatic toxicity of methotrexate therapy for rheumatoid arthritis. H. Mo. 705S A genome-wide association study identified variants in KCNIP4 associated with ACE inhibitor induced cough. J. D. Mosley. 706M International Clopidogrel Pharmacogenomics Consortium Genome Wide Association Study Identifies Novel Variants for Clopidogrel Response. A. Shuldiner. 707S Class II HLA variants are associated with differential antibody response to toxoid vaccinations in a cohort of Ugandan infants. A. J. Mentzer.
691S Metformin functional pharmacogenomics: STUB1 functions as an E3 ligase for cyclin A and affects metformin sensitivity. N. Niu. The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS 708M A genome-wide meta-analysis of corticosteroid response in asthmatics identifies a novel associated haplotype on chromosome 4. Q. L. Duan.
710M A Phenome-Wide Association Study of Numerous Laboratory Phenotypes in AIDS Clinical Trials Group (ACTG) Protocols. S. Pendergrass. 711S Genome-wide association study of warfarin maintenance dose in a Brazilian sample. G. SuarezKurtz. 712M Swedegene: Genome-wide association study of drug-induced agranulocytosis. M. Wadelius. 713S DMET platform identifies unique changes in metabolic gene variants in ethnic Arabs. S. MAJID. 714M Selection of cancer patients based on tumor AKT1 or PIK3CA mutation status. J. Fox. 715S Impact of regular physical activity on weekly warfarin dose requirement. P. Shahabi. 716M Comparison of parents’ initial intent and reported sharing of their children’s CYP2D6 research results at three month follow up. C. A. Prows. 717S Software for the clinical implementation of pharmacogenomic testing. R. Ammar. 718M Implementation of pharmacogenomics into clinical practice: Mayo Clinic experience. P. J. Caraballo. 719S The Kaiser Permanente/UCSF Genetic Epidemiology Research Study on Adult Health and Aging: Characterization of Clinically-Actionable Pharmacogenetic Alleles in over 100,000 Patients with Biobank-linked Electronic Medical Records. N. Gonzaludo. 720M Evaluating the Application of Star Allele Nomenclature for Pharmacogenomics in the Era of High-Throughput Sequencing. A. Gordon. 721S A sequence-based pharmacogenomic (PGx) panel: determining CYP2D6 sequence variants and copy number variation. A. E. Kwitek. 722M Prevalence of CYP2C19 * 2 polymorphism in the population with a clopidogrel prescription tertiary Clinic. J. Martinez. 723S Clinician Views about Implementation of Pharmacogenomics into Practice. J. F. Peterson.
724M Role of APOE4 genotypes in predicting cardiometabolic outcomes in individuals with metformin and metformin-sulfonylurea combination therapy. G. Priamvada. 725S Genome Liberty: Direct-to-Consumer Pharmacogenetics. J. A. Rosenfeld. 726M CHRNA4 rs1044396 is associated with smoking cessation with varenicline therapy. P. C. J. L. Santos. 727S Early drug responses that are followed by an acquired drug resistance in non-small cell lung cancer cells exposed to gefitinib. M. Takahashi. 728M Modeling the pharmacological response to advance the research in pharmacogenetics. J. Bertrand. 729S “A Tale Of Genetic Variation In The Human SLC22A1 Gene Encoding OCT 1 Among Type 2 Diabetes Mellitus Population Groups Of West Bengal, India”. D. Sur. 730M A role for B cells in Progressive Multifocal Leukoencephelopathy revealed by comprehensive genomic analysis. J. Carulli. 731S Association between CYP2B6 +516 G>T polymorphism and response to first-line therapy in Brazilian HIV-1+ individuals. T. B. Almeida. 732M Identifying Differentially Expressed Genes Associated with Extreme Blood Pressure Response to Hydrochlorothiazide monotherapy. A. C. Costa Sa. 733S Contribution of rare protein-coding variants to anti-TNF treatment response in rheumatoid arthritis patients. D. Diogo. 734M Assessing the clinical utility of massively parallel sequencing for pharmacogenomics research in the ClinSeq® study. D. Ng. 735S Development of a multiplex genotyping method for CYP2C19 specialized to Korean using the single base extension technique. D. Seo. 736M NAT2 polymorphisms in a Brazilian indigenous group. V. M. Zembrzuski. 737S Pharmacogenomic Analysis of the Ashkenazi Jewish Population by Whole-Genome Sequencing. S. A. Scott. 738M CYP2D6 allele specific copy number analysis using TaqMan® SNP Genotyping Assays and digital PCR. T. Hartshorne. 739S Analysis of CYP1A2 gene non-coding region polymorphisms in Roma and Hungarian population samples. B. Melegh.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS
709S Additional genetic risk factors for carbamazepine-induced cutaneous adverse drug reactions detected by conditional analysis using HLA-A*31:01 as a covariant in Japanese population. T. Ozeki.
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740M Evaluation of DNA extracted from up to 16 years old post-mortem blood FTA cards using Quantifiler Human Plus Quantification Kit. AL. Rahikainen.
756T Locating new genes which may be involved in the development of Primary Congenital Glaucoma. D. Bercovich.
741S Utilizing Pharmacometric Modeling in Pharmacogenetic Association Tests to Increase Study Power. H. Zhou.
757S Genome-wide Copy Number Variants in Chronic Obstructive Pulmonary Disease (COPD). F. Begum.
Complex Traits and Polygenic Disorders
758M Investigating the role of salivary amylase copy number in obesity using low-pass whole genome sequencing. M. A. Tuke. 759T Novel Missense Mutations in ABCC8 and Type 2 Diabetes in Pima Indians. L. J. Baier.
742S Exome sequencing of multiplex oral clefts families detects recurrent shared rare variants in 9 genes. E. R. Holzinger.
760S Targeted sequencing of genes associated with type 2 diabetes in 6800 individuals. V. Bansal.
743M Candidate gene analysis of non-syndromic tooth agenesis in Japanese. J. Machida.
761M Characterizing variation under linkage peaks in families. K. L. Edwards.
744T Exome sequencing reveals novel genetic cause of hereditary motor Neuropathy. S. Poornima.
762T An exome-wide sequencing study for type 2 diabetes-associated kidney disease in African Americans. M. Guan.
745S Whole Exome Sequencing Analysis of Severe, Early-Onset COPD in Extended Pedigrees. D. Qiao. 746M Whole Exome Sequencing in Severe Chronic Obstructive Pulmonary Disease. J. Xing. 747T Autism spectrum disorders and dystrophinopathy in three non-identical twins. D. P. Moreira. 748S Rare variants in high-risk pancreatic cancer susceptibility genes may increase risk for pancreatic cancer in some patients with and without CDKN2A mutations. A. M. Goldstein. 749M Whole Exome Sequencing of 75 Hereditary Prostate Cancer Families. E. Ostrander. 750T Identification of genetic variants in a consanguineous family with psychotic cases using autozygosity mapping and whole-exome next generation sequencing. A. Al Amri. 751S Haploinsufficiency for DLX4 is Associated With Abnormal Craniofacial Development and Upregulated BMP4. A. L. Choi. 752M Exome sequencing reveals a novel cubilin missense variant associated with albuminuria in american indians. N. Franceschini. 753T Examining Associations Between Multiple Sclerosis Cognitive Impairment and Genes Previously Associated with Cognitive Decline in Other Disease. C. Holingue. 754S Genetic contribution to cerebral palsy. G. McMichael. 755M Testing the effect of compound heterozygosity on anthropometric traits in the general population. S. Lessard.
763S Exome chip meta-analysis identifies novel loci and low-frequency variants contributing to central body fat distribution. A. E. Justice. 764M Whole genome sequence based analysis of thyroid function. NJ. Timpson. 765T Gene-variants associated with familial mesial temporal lobe epilepsy identified by whole exome sequencing. R. Secolin. 766S Mutations in Human Capicua Gene Found in Patients with CFD and NTDs. Y. Lei. 767M Combining linkage analysis and whole-exome sequencing for the identification of novel ADHDrelated variants in multi-generation pedigrees. J. Corominas-Galbany. 768T Targeted exome sequencing in extended pedigrees with type 2 diabetes identifies a novel diabetic nephropathy susceptibility gene. M. G. Pezzolesi. 769S Mis-matches between adiposity and metabolic traits: A replicated genomewide association study for metabolic disparity. L. J. Corbin. 770M Association analysis of exome chip data of Polycystic Ovary Syndrome in Estonian Biobank. R. Magi. 771T Large-scale exome chip genotyping reveals novel coding variation associated with endometriosis. A. P. Morris. 772S Association of Rare Variants with Cerebral Palsy by Whole Exome Sequencing. JJ. Connolly.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS 773M Whole Genome Sequencing for Discovery of Variants associated with Neuromyelitis Optica. A. DayWilliams.
775S The use of exome sequencing to identify single nucleotide variants associated with necrotizing enterocolitis in premature infants. J. M. Devaney. 776M Whole-exome imputation of sequence variants identified two novel alleles associated with adult body height in African Americans. M. Du. 777T Next steps for whole exome sequenced cases: imputing non-coding regions and incorporating whole genome sequenced controls. A. E. Hendricks. 778S Whole-exome DNA sequencing to find new variants associated with fetal hemoglobin levels. K. S. Lo. 779M Whole-Exome Sequencing Identifies Rare, Functional CFH Variants in Families with Macular Degeneration. J. Seddon. 780T Whole genome sequencing of 3,514 individuals from the founder population of Sardinia. C. Sidore. 781S Insights into the genetic architecture of anthropometric traits using whole genome sequence data. I. Tachmazidou. 782M Next-generation association studies in isolated populations. E. Zeggini. 783T When nature meets science: longevity blueprint. D. Ben-Avraham. 784S Quantitative trail loci for plasma proteins in current and former smokers with and without chronic obstructive pulmonary disease (COPD). R. P. Bowler.
789T Whole genome sequencing of two trios identifies mutations in ADNP2 and ZNFP2, candidate genetic modifiers for 22q11DS cognitive and cardiac phenotypes. J. Chung. 790S Whole exome sequencing of Cold MedicineRelated Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis (CM-SJS/TEN) with Severe Mucosal Involvement. Y. Hitomi. 791M Identification of putatively causative variants in three anorexia nervosa multiplex families by whole exome sequencing. D. Li. 792T Whole exome sequencing implicates novel rare genetic variants in susceptibility to Legionella pneumonia. A. Ndungu. 793S Exome sequencing of multiplex pedigrees for the identification of novel rare susceptibility variants for CD. B.-S. Petersen. 794M Mutations in LRP2 and NUP205 in Patients with Non-Syndromic Autosomal Recessive Intellectual Disability Using Exome Sequencing. N. Vasli. 795T Low-frequency coding variation in PRF1 and GALC mediate multiple sclerosis risk. C. Cotsapas. 796S Genomic Insights into Innate immunity against Viral Respiratory Infections in Pediatric Population. S. Asgari. 797M Evaluating the impact of rare functional polymorphisms in pediatric sepsis. A. Bittencourt Piccini. 798T Exome sequencing of 487 Community Acquired Pneumonia patients. K. S. Elliott. 799S Genome-wide exome array analyses reveal novel rare variants for refractive error in Asia populations. Q. Fan.
785M Low-frequency coding variants associated with female reproductive ageing. K. S. Ruth.
800M Analysis of the rare variant burden in the exomes of candidate HIV-target genes in relation to HIVacquisition and AIDS-progression. M. C. Turchin.
786T Redefining the contiguous gene syndrome in the era of high-throughput sequencing. L. Colleaux.
801T The application of the new D5000 ScreenTape assay in larger NGS library quality control. A. Inche.
787S Sequencing of genes expressed in podocytes uncovers FSGS risk alleles in European-American population. M. Artomov.
802S Using Exome Sequencing Followed By Genotyping To Identify Susceptibility Gene For Morbid Obesity. H. Jiao.
788M Evaluating rare variants in ZNF469 and other GWAS identified candidate genes in keratoconus. K. P. Burdon.
803M Identification of genes involved in functional recovery after stroke through exome sequencing of extreme phenotypes. R. Rabionet. 804T Lessons Learned From the Sequencing of Severe Insulin Resistance Exomes. F. Payne.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS
774T Whole exome sequencing in a patient with multiple miscarriages identifies a novel candidate gene. C. Demetriou.
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805S Disease associated variants in healthy centenarian exomes. L. C. Tindale. 806M Genetic variation among Multiple Sclerosis in Saudi Patients. M. Albalwi. 807T Admixture mapping of exome genotyping data implicates region 15q21.2-22.3 with keloid risk in African Americans. K. S. Tsosie. 808S Exome sequencing in pooled DNA samples identifies a potential candidate variant for preeclampsia. T. Kaartokallio. 809M High burden of deleterious variants and the genetic basis of speech sound disorders. H. A. VossHoynes. 810T Functional follow-up, fine mapping and haplotype meta-analysis improve insight in findings from exome chip analyses and reveal potential novel fasting glucose associations. S. M. Willems.
822T Associations of BST2 Polymorphisms with HIV-1 Acquisition in African American and European American People who Inject Drugs. E. O. Johnson. 823S Assessing genetic association between RASGRP3 and SLE susceptibility. X. Kim-Howard. 824M Polymorphism in MEN-1 gene is associated with increased risk and earlier age of pituitary adenoma development. J. Klovins. 825T Targeted resequencing of CFH-CFHR genes identifies new putative functional common and rare variants conferring susceptibility to Meningococcal disease. V. Kumar. 826S Candidate-gene association study of sciatica. S. Lemmelä. 827M Association study between NOD2 and CCDC122LACC1 genes and leprosy in Brazilians. C. S. Marques.
811S Exome Array Analysis of Quantitative Traits related to Glaucoma. A. I. Iglesias Gonzalez.
828T The role of SIRT2 in human longevity: converging evidence from gene expression, epigenetics and genetic variation. D. R. Mazzotti.
812M Relationship between neutrophil count, white blood count and TCIRG1 variation. E. A. Rosenthal.
829S Association of IL10 variants with visceral leishmaniasis in Indian population. A. Mishra.
813T Identification of COPD causal variants by combining GWAS associated SNPs, lung eQTLs, and pathogenicity prediction tools. M. Lamontagne.
830M SVEP1 c.2080A>C (p. Gln581His) gene is associated with altered mortality of septic shock. T. Nakada.
814S Association of IRS2 gene polymorphism G1057D with obesity in young. M. Martinez Lopez.
831T Generalization and fine-mapping of CDKN2B-AS1 for primary open-angle glaucoma in African Americans from the Epidemiologic Architecture for Genes Linked to Environment (EAGLE) study. N. Restrepo.
815M Revealing the detailed MHC implication in seven common diseases from the WTCCC by HLA imputation. N. Vince. 816T A polymorphism in the peptidyl arginine deiminase type IV gene (PADI4) is associated with radiographic joint destruction in patients with rheumatoid arthritis who are negative for anticitrullinated peptide antibody (ACPA). K. Ikari. 817S Risk for nonsyndromic cleft lip and palate from rare coding variants. K. Asrani. 818M Screening of CDH1 mutations in a Brazilian sample of nonsyndromic cleft lip / palate individuals. L. A. Brito. 819T Microsatellite (AT)n in the 3’ UTR of the CTLA4 gene is associated with coronary artery aneurysm of Kawasaki disease. H. Chi. 820S Interaction between PTPN2 and HLA-DRB1 SE alleles in rheumatoid arthritis. M. Houtman. 821M Genetic variants of SMADs in the TGF-/SMAD signal pathway are related specifically to susceptibility to ulcerative colitis in Japanese patients. T. Inamine.
832S Associations between variants in motilin genes and infantile hypertrophic pyloric stenosis. PA. Romitti. 833M Intracranial Aneurysm Genetics: A south India perspective. S. Sathyan. 834T Association between IRF6 polymorphisms and 8q24region in non-syndromic cleft lip with or without cleft palate in Brazilian population. L. T. Souza. 835S MC4R, TMEM18, SH2B1, SEC16B and ADIPOQ gene variants: associations with anthropometric and dietary variables in young children. M. R. Zandona. 836M The QT-interval prolonging variant p.D85N of KCNE1 associates with reduced levels of insulin after an oral glucose load. A. Jonsson. 837T The role of selected ion channel genes in dental caries. D. Lewis. 838S Analysis of Haptoglobin Duplication with Type 2 Diabetes and Diabetic End Stage Kidney Disease. JN. Adams.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS 839M Assessment of Common and Rare Variants at Established Type 2 Diabetes and Glucose Homeostasis Loci for Type 2 Diabetes Risk in African Americans. J. M. Keaton.
841S Candidate Genes for Non-syndromic Orofacial Clefts Identified by GWAS Were Assessed in Two African Populations. A. Butali.
853S Fine-mapping major histocompatibility complex associations in psoriasis and its clinical subtypes by HLA/MICA variant imputation. Y. Okada. 854M Meta-analysis on the 22q11.21 region identifies an autoimmune disease risk allele as associated with systemic lupus erythematosus. Y. Zhang. 855T Involvement of GTF2IRD1 in the complex hearing phenotype of Williams-Beuren Syndrome. C. P. Canales. 856S Genetic variant at ETS1 locus increases lupus risk and affects Stat1 binding. L. Kottyan.
842M Interaction of immune-related genetic polymorphisms and breastfeeding duration with Helicobacter pylori prevalence: the Pasitos Cohort Study. M. L. Grove.
857M Rs738409 Polymorphism in PNPLA3 Gene is Associated with Lower Insulin Resistance in Korean Men. JH. Park.
843T Why do some athletes with sickle cell trait suffer from heat illness? A. C. Stone.
858T Extended Haplotypes of controls regions of the HLA-G are associated with type 1 diabetes mellitus. R. De Albuquerque.
844S Genetic determinants of benign prostatic hyperplasia: associations with prostate volume. A. Giri.
859S Sequencing of the TBX6 Gene in Families with Familial Idiopathic Scoliosis. E. E. Baschal.
845M Identification of significant association and gene-gene interactions of polymorphisms in three inflammatory genes crp, tnf- , and lta for lower extremity performance in community-dwelling elders in taiwan-taichung community health study for elders (tchs-e). T. C. Li.
860M Association of variants in GALNT10 and related pathway genes with body mass index in African Americans. M. Stromberg.
846T Identification of significant association and gene-gene interactions of polymorphisms in three inflammatory genes tnf- , lta and il-6 for markers of appendicular skeletal muscle mass in communitydwelling elders in taiwan-taichung community health study for elders (tchs-e). L. N. Liao. 847S Genetic risk of rheumatoid arthritis conferred by HLA-DRB1 in African Americans stratified by local ancestry. R. J. Reynolds. 848M The main effects and gene-gene interactions among crp, tnf- and lta is associated with handgrip strength in community-dwelling elders in taiwantaichung community health study for elders (tchs-e). F. Y. Wu. 849T A gene-gene interaction in a shared Alzheimer disease/age-related macular degeneration pathway. M. W. Logue. 850S Targeted regulome sequencing reveals common, rare, and private regulatory variants associated with fetal adiposity. C. Guo. 851M Genome-wide Sequencing to Identify Novel Variants for Obesity in Pima Indians. K. Huang. 852T Fine-mapping eGFR susceptibility loci through trans-ethnic meta-analysis. A. Mahajan.
861T Targeted Sequencing of an Admixture Mapping Peak in Latinos Implicates Rare Non-coding Variation in Asthma Susceptibility. D. G. Torgerson. 862S Replication and fine-mapping of trait-stratified genome-wide association study identifies novel genetic associations with cytokine phenotypes in systemic lupus erythematosus. T. B. Niewold. 863M Refinement of association signals and residual heritability in host control of HIV viral load. P. J. McLaren. 864T Study of genetic risk factors for susceptibility to leprosy - the chromosomal region 6q25-q27 revisited. G. B. RAMOS. 865S Next-generation sequencing and targeted fine linkage disequilibrium mapping reveal FREM1 mutations associated with HIV acquisition in a subSaharan African cohort of female sex workers. J. F. Tuff. 866M The Role of ALDH7A1 in Body Composition among West Africans. A. R. Bentley. 867T Targeted sequencing of GWAS loci: insight into genetic etiology of cleft lip and palate. E. J. Leslie. 868S Integrating functional data to prioritize causal variants in statistical fine-mapping studies. G. Kichaev. 869M Analysis of genes involved in carnitine metabolism and functions in autistic patients by targeted sequencing. J. Ge.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS
840T Detailed phenotypic analysis of lipid SNPs reveals divergent effects of SORT1 on circulating LDL cholesterol, plasma glucose and their respective cardio-metabolic complications. L. A. Lotta.
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870T Genetic contributions to obesity and metabolic risk in Mexican-American children. R. J. Mudgway. 871S The analysis of MC1R polymorphisms can be used as a tool to predict complex phenotypes, such as skin and hair color in Brazilian population? F. Goncalves. 872M Genetic risk variants for body mass index are associated with decreased excessive daytime sleepiness in 9,832 individuals of European ancestry from NHLBI cohorts. J. M. Lane. 873T Promoter Polymorphism and low Serum Levels of Mannose Binding Lectin as risk factor for Rheumatoid Arthritis in Indian population. A. Sodhi.
885T Nicastrin knockdown in keratinocytes induces expression profiles for decreased expression of cell cycle genes and increases gene expression related to type-1 interferon response. E. D. O. Roberson. 886S Functional study of Peptidylarginine deiminase type 4 as genetic risk factor for RA. A. Suzuki. 887M Functional characterization of a TERT-CLPTM1L multi-cancer risk locus on chr5p15.33. L. Amundadottir. 888T Functional BDNF gene variants increase risk to moderate-severe allergic rhinitis (AR). AK. Andiappan. 889S A non-coding variant near BMP2 associated with sagittal non-syndromic craniosynostosis causes differential GFP expression in zebrafish. C. M. Justice.
874S Carboxypeptidase E and dopamine transporter SNPs are associated with percent weight change in kidney transplant recipients. A. G. Stanfill.
890M Functional Investigation of Celiac Susceptibility Gene LPP in T Cells. B. Molloy.
875M Candidate gene association study of chronic obstructive pulmonary disease using a targeted high throughput sequencing approach. J. Klar.
891T Why do Genetic “Risk Factors” for Major Diseases not Always Negatively Affect Survival? S. Ukraintseva.
876T SNP variants in MHC are associated with sarcoidosis susceptibility and subgroups - a joint case-control association study in four European populations. A. Wennerström.
892S Disruption of the CTNND2 gene causes learning problems within the dyslexia spectrum. A. Lindstrand.
877S Assessment of LGALS3 genetic variants rs4644, rs4652, rs2075601 and galectin-3 levels as risk factor in Rheumatoid Arthritis. T. Kaur. 878M Genetic association study between 39 genes and nonsyndromic cleft lip and cleft palate in Brazilian population. TK. Araujo. 879T Exome sequencing and targeted DNA resequencing reveals association of the MYO5B SNP rs183559995 with risk of Familial Nonsyndromic Cleft Lip and Palate. S. Beiraghi. 880S Rare Variants Within 7p Region Associated with Carotid Bifurcation Intima-Media Thickness Among Dominican Republic Families. N. D. Dueker. 881M No association of PTPN22 and SUMO4 Polymorphisms with predisposition to type 1diabetes (T1D) in a cohort of south Indian subjects. B. C. Gorijala. 882T Evaluation of Genetic Polymorphism of MBL2 Gene and Pulmonary Function Test in Chronic Obstructive Pulmonary Disease. A. Sharma. 883S Age-related hearing impairment associated with GJB2 single mutation IVS1+1G>A in the Yakut population in Eastern Siberia. N. A. Barashkov. 884M Enzymatic properties of the catalytic domain of mouse acidic mammalian chitinase expressed in Escherichia coli. A. Kashimura.
893M Genetic and phenotypic correlations between surrogate measures of insulin release obtained from oral glucose tolerance test data. A. P. Gjesing. 894T Potential Transcriptional Mediators for Established Type 2 Diabetes Variants in Southwestern American Indians. R. L. Hanson. 895S A common Greenlandic TBC1D4 variant confers muscle insulin resistance and type 2 diabetes. I. Moltke. 896M The Type 1 Diabetes Susceptibility Gene CLEC16A encodes protein which restrains NK Cells function. R. Pandey. 897T Understanding genetic interactions underlying type I diabetes based on chromatin interactions and across-pathway interactions. MK. Sung. 898S DIO2 rSNPs, transcriptional factor binding sites and disease. N. Buroker. 899M Harnessing genome engineering to characterize the role of STRs in gene regulation. D. Zielinski. 900T Functional genomics of the costimulatory locus in autoimmune disease. L. Petukhova. 901S Allele specific chromatin interaction of 9p21 endometriosis risk locus regulates expression of ANRIL. H. Nakaoka. 902M A Genomewide Association Study of Alcohol Dependence in the Irish Affected Sib Pair Study of Alcohol Dependence. B. P. Riley.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS
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919S Epigenetic effects of environmental enrichment and EGCG treatment on a mouse model of Down Syndrome. C. N. Hor.
904S Lupus associated coding polymorphism rs1143679 within ITGAM acts in both nucleotide and protein level to develop disease phenotypes. A. K. Maiti.
920M The Molecular Convergence of non-HLA Ankylosing Spondylitis Risk Genes with Autoimmune Diseases. D. O’Rielly.
905M Host genetic variation and Kaposi’s Sarcomaassociated herpesvirus infection. N. Sallah. 906T Studying the effects of pubertal timingassociated gene LIN28B on early vertebrate development using zebrafish as a model. J. T. Leinonen. 907S Microglia deficiency in TREM2 R47H carriers with familial late onset Alzheimer disease. E. Korvatska. 908M Functional study of a novel unexpected interferon-responsive gene, GRAMD1B, identified in Multiplex MS families. F. Martinelli Boneschi. 909T The causal basis of Hirschsprung disease risk: functional consequences of polymorphisms in two RET shadow enhancers. S. Chatterjee. 910S Functional regulatory assessment of the APOL1 kidney disease risk variants. P. An.
921T Characterizing the Nphp10 (Sdccag8Tn(sbTyr)2161B.CA1Cove) mouse model. K. Weihbrecht. 922S Transcriptome analysis of differentially expressed isoforms in hypertrophied cardiomyocytes derived from human iPSCs using RNA-Seq. W. Li. 923M Maternal effects influence the heritability of adult obesity traits but not obesogenic growth trajectories in a model system. C. A. Schmitt. 924T The Genetic Landscape of Hematopoietic Stem Cells. H. Allayee. 925S Genotyping-by-sequencing in outbred CFW mice yields a powerful approach for genome-wide mapping of complex trait loci. P. Carbonetto. 926M An APP, BACE expressing C. elegans model of Alzheimer’s disease. K. N. Ly.
911M Four regulatory variants alter protein binding and contribute to transcriptional activity at the ANGPTL8 HDL-C GWAS locus. M. E. Cannon.
927T Characterization of neuronal development in autism using induced pluripotent stem cells reveals disease-specific changes in neurite outgrowth and expression of synaptic function genes. B. A. DeRosa.
912T The expression of adipokines in the peripheral blood leukocytes of young patients with myocardial infarction. R. Richterova.
928S Association of Age-related Macular Degeneration (AMD) Susceptible Genes with Second Eye Involvement of AMD. M. Miyake.
913S An atopy-associated variant in the 11q13.5 locus regulates promoter activity. J. Manz.
929M Nasopharyngeal microbiome composition is associated with lung function in adult Hutterites. C. Igartua.
914M Obesity and metabolic disorders in children as part of the Reward Deficiency Syndrome: association with the SNP TaqIA C32806T of DRD2 gene. R. M. Pinto. 915T The International Genomics and Translational Research in Transplantation Network (iGeneTrain). J. van Setten. 916S Repair activity of primate-specific alternative single-stranded DNA binding protein aRPA may explain brain-region repeat instability in CAG/CTG trinucleotide repeat diseases. J. Luo. 917M Novel Indoleamine 2, 3-Dioxygenase (IDO) gene mutation in the Pathogenesis of age-related cataract. P. Gunda. 918T Genetic Variants Concomitantly Influence Nonalcoholic Fatty Liver Disease and Correlated Metabolic Traits. M. F. Feitosa.
930T Hematopoeitic stem cells target neovascular tissue in a novel preclinical model of proliferative diabetic retinopathy. K. Wert. 931S The Role of Copy Number Variants in Latino Children with Asthma. M. L. Spear. 932M Family-based Associations and Parent of Origin analyses reveal novel associations with inflammatory bowel disease (IBD). X. YAN. 933T Parent-of-origin effects of the APOB gene on adiposity in young adults. H. Hochner. 934S Heritability explained by common SNPs for dietary intake: genome-wide analysis in three US cohorts. Q. Qi. 935M The role of STRs in shaping complex traits. T. Willems.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS
903T eMERGE Phenome-Wide Association Study (PheWAS) Identifies Clinical Associations and Pleiotropy for Functional Variants. A. Verma.
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936T Regulatory variants explain much more heritability than coding variants across 11 common diseases. A. Gusev. 937S Haplotypes explain additional heritability of complex traits. G. Bhatia. 938M Heritability Estimates and Genetic Association for 60+ Complex Traits in a Young Healthy Sibling Cohort. Q. Ma. 939T Additive and epistatic effects of enhancer variants at GWAS risk loci. O. Corradin. 940S The genetics of exceptional human longevity: new clues from big data on disease. K. Fortney. 941M A meta-analysis of genome-wide association scans for nevus count reveals PPARGC1B as affecting both moliness and melanoma risk. N. G. Martin. 942T Identification of 4 novel susceptibility loci for intracranial aneurysms in Portuguese using a poolingbased GWAS. P.CS. Abrantes. 943S A GWAS of Risk Genes for Birth of a Child With Down Syndrome. E. Feingold. 944M Genome-wide Association Study, Meta-Analysis and Linkage Study of Gamma-Prime Fibrinogen Plasma Levels in a Healthy Young Cohort. A. Ozel. 945T SORBS1 gene, a new candidate for diabetic kidney disease: results from a multi-stage genome wide association study. M. Germain. 946S Polymorphism upstream of cryopyrin gene (NLRP3) is associated with severe retinopathy in type 1 diabetes. S. Hosseini. 947M Genome-wide meta-analysis identifies novel variants associated with fasting plasma glucose in East Asians. J. Hwang. 948T A Genome-wide Association Study of ApneaHypopnea Index in Children with Obstructive Breathing. r. pellegrino. 949S The Association between Genetic Markers for Type 2 Diabetes and Carnitines: A Replication of Adult Findings in a Neonatal Population. CJ. Smith. 950M A genome-wide association analysis of scarring trachoma in rural Gambia. C. S. Franklin. 951T Genetic variation predicts serum lycopene concentrations in multi-ethnic population of postmenopausal women. N. Zubair.
952S Systematic genome-wide microbiome association analysis in the Northern-German population identifies genetic variation that impacts microbial diversity in the gut. A. Franke. 953M Identification of Susceptibility Loci for Crohn’s Disease in Koreans through Immunochip. M. Hong. 954T Pathway Based Genome-Wide Association Studies Reveal the Association between Growth Factor Activity and Inflammatory Bowel Disease. C. Kim. 955S Whole-genome imputation identified 3 suggestive loci for inflammatory bowel disease in a Japanese population. K. Yamazaki. 956M Genome-wide and exome chip study of subcutaneous and visceral adipose tissue reveals novel gender-specific adiposity loci in Hispanic Americans: The Insulin Resistance Atherosclerosis Family Study (IRASFS). C. Gao. 957T Meta-analysis of macronutrient intake in over 64,000 individuals using 1000 Genomes imputed genotypes confirms the association of FGF21 with composition of dietary intake and suggests potential tissue-specific effects in liver and skeletal muscle. A. Y. Chu. 958S Genome-Wide Association Study Identifies Novel Genetic Determinants of Emphysema Distribution Patterns. A. El Boueiz. 959M Heritability and locus susceptibility in agerelated macular degeneration varies by clinical phenotypes. L. Shen. 960T Genome-Wide Association Study of Serum Sodium Concentration in Han Chinese Population residing in Taiwan. I. Song. 961S Y Chromosome degradation and male longevity in the Long Life Family Study. M. Bailey. 962M Genetic admixture and proliferative diabetic retinopathy in Latinos. X. Gao. 963T GWAS of 89,283 individuals identifies genetic variants associated with being a morning person. Y. Hu. 964S Genome-wide Copy Number Scan Identifies Involvement of IRF6 in an Indian Family with Van der Woude Syndrome. D. S. Manjegowda. 965M Genetic determinants of healthspan - analysis of Wellderly dataset. W. Sikora-Wohlfeld. 966T Adjusting for heritable covariates can bias effect estimates in genome-wide association studies. H. Aschard.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS 967S Meta-analysis of genome-wide association studies in alopecia areata reveals new susceptibility loci and resolves HLA associations. R. Betz.
969T Six novel loci associated with VEGF circulating levels identified by a meta-analysis of genome-wide association studies. S. Choi. 970S Genome-Wide Association Study in Different Stages of Clinical Progression of Alzheimer Disease. J. Chung.
982S Genome-wide association study of comorbidity of alcohol and nicotine dependences. J. Jung. 983M Mapping variation in response to vitamin D in the immune system. S. N. Kariuki. 984T Comparing of GWAS data for the personality in four Korean cohort. B. Kim. 985S Genome-wide association study (GWAS) of atopic dermatitis in Korean children. K. W. Kim. 986M The genetic landscape of pediatric autoimmune diseases. Y. R. Li.
971M Genome-wide association studies for dental caries in African American and Latino populations: Novel genes, heterogeneity, and replication. J. Colavincenzo.
987T Genomewide association study identifies six novel loci associated with plasma carnitine levels. H. Li.
972T Genetic determinants of normal human facial variation. J. B. Cole.
988S CLEC16A associates with human common variable immunodeficiency and influences murine B cell survival and function. J. Li.
973S Contribution of common polygenic variation captured by the Immunochip to celiac disease heritability in an independent Irish population. C. Coleman.
989M Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma. S. Macgregor.
974M Genetic insights into primary biliary cirrhosis - an international collaborative meta-analysis and replication study. H. J. Cordell. 975T A Genome Wide Association Study of peanut sensitisation in the Manchester Asthma and Allergy Study. J. A. Curtin. 976S A genome-wide association study identifies a LEPR gene as a novel predisposing factor for childhood FPG. M. GO. 977M Comprehensive curation and visualization of ethnicity information from published genome-wide association studies (GWAS): an improved GWAS Catalog. L. A. Hindorff. 978T Variants within ADAMTS9-AS2 influence fingerprint patterns. Y.YW. Ho. 979S Genome-wide association and local ancestry analyses of high-altitude adaptations in Tibetans. C. Jeong. 980M GWAS meta-analysis of primary sclerosing cholangitis identifies new disease loci and further clarifies the genetic relationship with inflammatory bowel disease. S. Ji. 981T Integrated analysis of known height association signals with novel signals from an East Asian GWAS decodes the genetic architecture of height through in silico functional candidate prioritization and gene network analysis. T. A. Johnson.
990T CTNNA3 and SEMA3D: Promising loci for asthma exacerbation identified through multiple cohorts. M. McGeachie. 991S Genome-wide association study of exfoliation syndrome/exfoliation glaucoma in a Japanese population. M. Nakano. 992M Genome-wide association study identifies two distinct risk haplotypes at LBX1, and links ITPR1 and SOX5 to adolescent idiopathic scoliosis. L. Nelson. 993T Genome-wide association of 44,714 subjects of African ancestry imputed to the 1000 Genomes reference panel identified two novel loci influencing body mass index. M. C. Y. Ng. 994S The Genetics of Erectile Dysfunction Risk in Men with Type 1 Diabetes. M. R. Palmer. 995M Common genetic variation explains a substantial fraction of nicotine and cotinine glucuronidation in multiple populatons. Y. M. Patel. 996T Search for new risk gene for Stevens-Johnson Syndrome independent of HLA risk allele. H. Sawai. 997S Investigation of genetic variation underlying central obesity among Indian Asians. W. R. Scott. 998M Common variants at c11orf30 and CAPN14 are associated with eosinophilic esophagitis. P. M. A. Sleiman. 999T Genome-wide association study imputed to 1000 genomes identifies novel loci associated with lung function. M. Soler Artigas.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS
968M Examining the genetic basis of variation in sitting height ratio (SHR) using population cohorts. Y. Chan.
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1000S Family based association study for pulmonary function in North-east Asian population. H. Y. Son. 1001M Genome-wide association study implicates LEKR1 at 3q25.31 and an intergenic region at 8q24.21 in Primary Spontaneous Pneumothorax risk. I. Sousa. 1002T Genomewide association for rotator cuff disease identifies two significant SNPs. C. C. Teerlink.
1017T Menopausal age shares a common genetic background with diabetes and lipid traits: a study on 13.484 Finns. A. Joensuu. 1018S eSNP regulators of genes underlying Mendelian diseases are enriched among T2D-associated variants. J. Torres.
1003S A genome-wide meta-analysis of hyper- and hypothyroidism and thyroid function. A. Teumer.
1019M Association analysis of a SLC16A11 variant with type 2 diabetes in 12,811 American Indians and evidence for its association with RNASEK expression. M. Traurig.
1004M Genome-wide Mega-Analysis on Myopia and Refractive Error in CREAM and 23andMe. V. J. M. Verhoeven.
1020T Asthma susceptibility genetic variants are more strongly associated with phenotypically similar subgroups of patients. E. Lavoie-Charland.
1005T Genetic discovery in the 23andMe participant cohort. D. A. Hinds.
1021S Pooled targeted resequencing to identify genomic variants associated with crohn’s disease in Korea. C. Park.
1006S A genome-wide regulatory haplotype analysis of asthma. D. C. Croteau-Chonka. 1007M Genetic analysis of central serous chorioretinopathy and polypoidal choroidal vasculopathy. J. Ahn. 1008T Known Age-Related Macular Degeneration Risk Variants Are Not Associated with Rapid Disease Progression or Good Treatment Response. M. D. Courtenay. 1009S Large association study of exonic variants in idiopathic achalasia. J. Becker. 1010M Identification of novel and rare coding variants associated with free fatty acids and serum fatty acid profile. X. Sim. 1011T Replication of the association signals of thyrotoxic periodic paralysis (TPP) at chromosome 17q24.3. P. Chen. 1012S The PhenX Toolkit: A Genomic Resource for Standard Measures of Phenotypes and Exposures. W. Huggins. 1013M Analysis of Interleukin 10 haplotypes with soluble IL-10 levels and autoantibody production in Mexican patients with primary Sjögren’s syndrome. M. Vázquez-Villamar. 1014T Large scale meta-analysis of 1000G imputed genotypes in 95,061 subjects reveals 7 novel loci for loss of kidney function. M. Gorski. 1015S Association analysis of PPARG (p.Pro12Ala) polymorphism with type 2 diabetic retinopathy in patients from north India. N. Kaur. 1016M To study the association of -106 C/T polymorphism in the aldose reductse (AKR1B1) gene with diabetic retinopathy. V. Kumar.
1022M Association of HLA-DPB1 alleles with CHB infection and HBV related HCC in Asia. N. Nishida. 1023T New mutations in the MYOC gene in patients with juvenile open-angle glaucoma. J. P. C. Vasconcellos. 1024S Association of ADIPOQ rs266729, rs17300539, rs2241766 and rs17846866 with Type 2 Diabetes and Diabetic Retinopathy in North-West Indian population. A. Bhanwer. 1025M More evidence for association of a rare TREM2 variant (R47H) with Alzheimer’s disease risk. S. L. Rosenthal. 1026T The IL10 ACA haplotype is associated with rheumatoid arthritis in patients from Western Mexico. J. Hernandez-Bello. 1027S Serum Uric Acid Levels Are Associated with Polymorphism in the SLC2A9, SF1 and GCKR Genes in Chinese Subjects. C. Hu. 1028M Transferrin receptor and hereditary hemochromatosis gene variants interact to modify childhood leukemia risk. A. E. Kennedy. 1029T Pro12Ala polymorphism in PPARG gene in mexican patients with systemic lupus erythematosus. G. M. Mimendi Aguilar. 1030S Quantification of Hirschsprung disease susceptibility from common polymorphisms in relation to gender, segment length of aganglionosis and familiality. A. Kapoor. 1031M Association between common variant near CAV1 and CAV2 genes and phenotypic features of primary open-angle glaucoma. F. Mabuchi. 1032T GSTT1 and GSTM1 gene frequency in Punjabi population exposed to pesticides. M. Ahluwalia.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS
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1048S Genome wide gene-vitamin D interaction analysis suggests potential role for melanoma related genes in Parkinson disease. L. Wang.
1034M Haplotype association and synergistic effect of Renin-angiotensin aldosterone system gene polymorphisms causing susceptibility to essential hypertension in Indian patients. C. Bhupatiraju.
1049M Smoking Then and Now: What Can the Aggregate of Genome-wide SNPs Tell Us About the Correspondence of Genetic Factors Influencing Cigarette Smoking Initiation Between Birth Cohorts. A. G. Wills.
1035T Genetic variation and Insulin Resistance in middle age Chinese men. r. villegas. 1036S EWAS to GxE: A robust strategy for detecting gene-environment interaction models for age-related cataract. M. A. Hall. 1037M Polygenic and Localized Genotype by Diabetes Duration Interaction Effects on Gene Expression. J. W. Kent. 1038T MS Risk Conferred by Obesity may be Independent of Predisposing Genetic Factors for Obesity: Results from the Kaiser Permanente MS Research Program. M. Gianfrancesco. 1039S Congenic analysis reveals a gene-stress interaction affecting obesity in mice. S. M. Clee. 1040M Genetic Interactions in Developing of Rheumatoid Arthritis. L. M. Diaz-Gallo. 1041T Smoking-dependent genetic effects on obesity traits: the GIANT (Genetic Investigation of Anthropomorphic Traits) Consortium. V. A. Fisher. 1042S Tomato consumption, an anecdotal trigger of gout flares, interacts with three urate transporters (ABCG2, SLC22A12 and SLC22A7) in a non-additive fashion to influence serum urate. T. Flynn. 1043M Preliminary evidence of an interaction between a polymorphism in the BDKR2B gene and the dietary potassium intake on the systolic blood pressure in a sample of healthy adults. J. Giovanella. 1044T Genome-wide gene-physical activity interaction study of BMI and waist-hip ratio in 180,418 individuals. T. O. Kilpeläinen. 1045S Association of physical activity with lower type-2 diabetes incidence is weaker in those with high genetic risk. Y. C. Klimentidis.
1050T Risk prediction and Type II Diabetes. N. Furlotte. 1051S Investigate cytokine levels of cord blood samples in related to maternal allergic status. H. Tsai. 1052M Estrogen-dependent upregulation of IRF5 in human immune cells. S. E. Lofgren. 1053T Genetic and early life environmental influences on body mass index. A. Smith. 1054S A new GATK framework for RNA-seq variant discovery identifies differential A-to-I RNA editing in autistic brains. A. Eran. 1055M Risk Prediction for Age-Related Macular Degeneration Using Genetic and Environmental Factors. W. Wu. 1056T Study of genetic polymorphism and oxidative stress markers analyses in psoriasis patients from Indian. S. Chettiar. 1057S Multiscale Analysis of Chronic Fatigue Syndrome. N. D. Beckmann. 1058M Genetic influences common to bronchial asthma and pulmonary tuberculosis present targets for intervention. R. C. McEachin. 1059T Identification of a Common Pathogenesis for Chronic Kidney Disease: Perspectives from Gene Ontology analysis. W. Wu. 1060S Pathway Burden Analysis Identifies Genes Underlying Complex Human Limb Disorders. D. Alvarado. 1061M Integrative Analysis of Transcriptomic and Epigenomic Data to Reveal Regulation Patterns for Osteoporosis. J. G. Zhang.
1046M Genome-wide scan for context-dependent marker SNP effects in coronary heart disease. S. M. Raj.
1062T The Brainstorm project; a cross-phenotype analysis of 14 brain disorders by heritability-, constraint- and pathway-based methods, using genome-wide association data from 500,000 samples. V. Anttila.
1047T Utility of the rhesus macaque (Macaca mulatta) as a novel genetic model for spontaneous human inflammatory bowel disease (IBD): sexual dimorphism and gene-by-sex effects on chronic diarrhea. A. Vinson.
1063S RAI1 is a multi-hit regulator of obesity gene expression networks. J. T. Alaimo. 1064M Uncovering the pairs of tissue-epigenetic mark which are relevant for a trait. T. Bigdeli.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS
1033S Relationships between genetic ancestries and nicotine and tobacco carcinogen metabolisms in the Multiethnic Cohort. H. Wang.
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POSTER SESSIONS
1065T Network analysis to identify human genes influencing susceptibility to Mycobacterium tuberculosis and Nontuberculous mycobacteria infection. E. M. Lipner.
1082M Beyond GWAS: Probing the landscape between pathway associations, genome-wide associations and protein-protein interaction networks in Chronic Obstructive Pulmonary Disease. M. McDonald.
1066S Reevaluating the clinical delineation of inflammatory bowel disease using genetic and subphenotype data. L. Jostins.
1083T Systemic effects of genetic variation on gene expression. D. Plichta.
1067M Integration of diverse genomic datasets identifies novel pathways and key regulatory networks for type 2 diabetes and related traits. L. Shu.
1084S Pathway analyses of extreme age-related macular degeneration phenotypes using whole exome sequencing data. R. J. Sardell.
1068T Using random forests to identify genetic links between Alzheimer’s disease and type 2 diabetes. B. Darst.
1085M Exome variants underneath linkage peaks in multiplex Sardinian multiple sclerosis pedigrees implicate genes with roles in autoimmunity and neuroinflammation. A. Hadjixenofontos.
1069S Clusters of urate transporter genes as genetic biomarkers in the early detection, diagnosis and prediction of gout. C. Chung.
1086T Family-Based Linkage Analysis of Coding Variants with Cardiometabolic Traits in the Diabetes Heart Study. L. M. Raffield.
1070M Identification of novel predisposing genes in neural tube defects by whole exome sequencing in multiplex families. P. Lemay.
1087S Identification of Juvenile Myoclonic Epilepsy Loci in Chromosomes 16p13.3, 13q31.1 and 4q35.2 in Honduran Families: Linkage to Epilepsy and Encephalography Traits. Y. Lin.
1071T The Genetic Architecture of Age-Related Macular Degeneration in the Amish. J. D. Hoffman. 1072S Genome-wide profiling of gene expression and DNA methylation changes in Alzheimer’s disease brains. M. Allen. 1073M Heterogeneous Network Link Prediction Prioritizes Disease-Associated Genes. D. Himmelstein. 1074T Expression pathway analysis for genes associated with rheumatoid arthritis. K. Shchetynsky. 1075S Stratified enrichment test for dissecting colocalized genomic annotations to fine-map complex trait variants. G. Trynka. 1076M Transcriptional Analysis of Sepsis Patients Reveals Differential Expression Patterns. D. L. Dinwiddie. 1077T Analysis of Endosomal Trafficking and Protein Recycling Genes in Parkinsonism. E. K. Gustavsson.
1088M Candidate high-penetrance locus for myopia identified on chromosome 7 using linkage and familybased association analyses of exome chip data in 3 U.S. populations. J. E. Bailey-Wilson. 1089T Linkage-based Analytical Approaches with GWAS Data to Localize Variants Underlying Complex Traits. N. D. Palmer. 1090S Meta-analysis of birth weight genome-wide association studies identifies five novel loci extending links between early growth and adult metabolic diseases. M. Horikoshi. 1091M Runs of homozygosity reveal inbreeding depression on cognitive function and stature. P. K. Joshi. 1092T Population-wide linkage screen for successful aging in the Amish. J. E. Hicks. 1093S Simple Linkage-Based Methods to Identify Cardiometabolic Risk in Families. J. N. Hellwege.
1078S Transcriptome analyses of patient-specific induced pluripotent stem cell (iPSC) derived neural stem cells implicate neurodevelopmental pathways involved in Tourette Syndrome. N. Sun.
1094M Linkage and association mapping for osteoarthritis progression in the Genetics of Generalized Osteoarthritis Study. M. S. Yau.
1079M Liver-specific long non-coding RNAs and its association with liver disease. J. Fu.
1095T Using monogenic phenotypes to identify mechanisms of GWAS variants associated with insulin resistance. H. Yaghootkar.
1080T The Effects of Genetic Perturbation on Networks of Phenotypes in Complex Diseases. J. Chu. 1081S Mediation effect of eQTLs reveals transregulation of gene expression in complex disease traits. C. Yao.
1096S Copy number of the salivary amylase gene AMY1 modulates serum amylase levels and is associated with the metabolic profile. J. S. El-Sayed Moustafa. 1097M Accurate molecular prediction in inflammatory bowel disease. H. Huang.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS
127
1114S Excess of Runs of Homozygosity is associated with severe cognitive impairment in Intellectual Disability. I. Gandin.
1099S Use of diverse electronic medical record systems for a genomewide association study of colonic diverticular disease in European-ancestry populations. M. G. Hayes.
1115M Impact of genetic burden on the age at onset in bout-onset and progressive multiple sclerosis. M. Sorosina.
1100M Comparative Analysis of Electronic Health Record (EHR)-driven and Conventional Cohort-driven Genomic Research. V. Thaker. 1101T UK BiLEVE, the first genetic study in UK Biobank, identifies novel regions associated with airway obstruction phenotypes using a custom genome-wide array in 50,000 individuals. L. V. Wain. 1102S APOL1-associated kidney disease risk and hypertension management in primary care - A project of the IGNITE Network (Implementing GeNomic medicine In pracTicE). N. S. Abul-Husn.
1116T Association of Mitochondrial DNA levels with Frailty and All-Cause Mortality. F. N. Ashar. 1117S Significant role of height-associated variants in the variation of intracranial volume. R. Shafee. 1118M MultiBLUP: Improved Prediction for Complex Traits. D. Speed. 1119T Hair e-QTLs - delineating the genetic basis of gene-expression in human hair follicle and its implication for the interpretation of hair loss disorders. S. Heilmann.
1103M Mendelian Randomization study of body mass index/waist hip ratio-associated SNPs and five cancer types. C. Gao.
Psychiatric Genetics, Neurogenetics and Neurodegeneration
1104T Distinct differences in HLA genotypes for latent autoimmune diabetes in adults (LADA) and type 1 diabetes within the same extended pedigree. K. J. Basile.
1120S Next generation sequencing approaches for the identification of novel genes in spinocerebellar degeneration. M. Coutelier.
1105S Like Mother, Like Daughter: Analysis of ParentChild Phenotypic Correlations for Hundreds of Medical and Behavioral Traits. E. Pierson. 1106M Robust microRNA expression upregulation exists in inflammatory bowel disease. S. Ben-Shachar. 1107T KinGen: a partnership of high kinship population resources. J. F. Wilson. 1108S Meta-Analysis of Glaucoma Genome-Wide Imputed Datasets. J. N. Cooke Bailey. 1109M Influence of BMI- and lipid-associated variants on longitudinal phenotypes. R. M. Salem. 1110T ABCG2 dysfunction causes renal underexcretion hyperuricemia as well as renal overload hyperuricemia. H. Matsuo. 1111S Coherent Somatic Mutation in Autoimmune Disease. K. A. Ross. 1112M Secular change in 13 metabolic phenotypes: A Chinese longitudinal twin study. S. Li. 1113T Latent variable adjustment of NIH Epigenomics Roadmap ChIP-seq data for utilization in tissuespecific polygenic analysis of type II diabetes in the DIAGRAMv3 GWAS meta-analysis. A. L. Dobbyn.
1121M Homozygosity mapping and candidate gene screening in Attention Deficit/Hyperactivity Disorder (ADHD) in Highly Inbred Saudi Arabian Families. F. Alnaemi. 1122T Linkage analysis, homozygosity mapping and whole exome sequencing to identify new genes in consanguineous families with juvenile myoclonic epilepsy. B. ouled amar bencheikh. 1123S Genetic characterization of a homozygous 9p deletion in a patient with hyper IgE syndrome and progressive multifocal leukencephalopathy supports deficiency of DOCK8 as a causal factor for both diseases. C. Sun. 1124M Next-generation sequence analysis of neurodegeneration on Guam. I. Guella. 1125T Sex differences in neuropsychiatric expression of rare deletions overlapping schizophrenia susceptibility gene ZNF804A. C. Lowther. 1126S Clinically Relevant Candidate and Known Genes for Alcoholism with Representation on High Resolution Chromosome Ideograms. A. M. Manzardo. 1127M Association analysis of HLA-DQB1 gene with narcolepsy without cataplexy and idiopathic hypersomnia. T. Miyagawa.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS
1098T Improving the Power of Genetic Association Tests with Imperfect Phenotype Derived from Electronic Medical Records. J. A. Sinnott.
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POSTER SESSIONS
1128T Targeted Sequencing of Candidate Genes Identified with Exome sequencing in Multiplex Autism Families. A. Patowary. 1129S Further evidence for DLGAP2 as an ASD/ ID candidate gene. H. Poquet.
1146T Distinct genetic variants in Alzheimer’s disease, Parkinson’s disease and type 2 diabetes. S. J. Chung. 1147S Defects of ARHGAP36 in patients with developmental delay and autism. S. Fan.
1130M Structural equation models of communication endophenotypes suggest that human vocalized speech has a polygenic basis. C. M. Stein.
1148M HIV-related cognitive impairment shows association with polymorphisms within the dopaminergic system in substance dependent and independent populations. M. M. Jacobs.
1131T Second thought about 16p12.1 microdeletion syndrome: is two-hit a valid model? F. Boyar.
1149T HLA-DRA is strongly associated with Parkinson’s disease in Iranian population. J. Jamshidi.
1132S DUF1220 domain copy number is linearly associated with increased speech delay in individuals with autism. J. M. Davis.
1150S Ancestral haplotypes of BHLHE40 in non-24hour rhythms and bipolar disorder. D. F. Kripke.
1133M First report on a multiplex, consanguineous, family with autism and chromosome 15 duplication. H. Mansour. 1134T Screen for somatic mosaic mutations in unexplained Dravet syndrome patients. CT. Myers. 1135S Genome-wide linkage analyses of non-Hispanic White families identifies several novel loci for familial late-onset Alzheimer’s disease. J. Jaworski. 1136M Microsatellites in the 5’ flanking region of AVPR1A were associated with social behavior scales of autism spectrum disorders in the Korean population. J. Park. 1137T X-Chromosomal genetic and epigenetic factors in the etiopathogenesis of ADHD. J. Kapalanga. 1138S Personality Genetics and Health in Super Seniors. J. M. T. Nelson. 1139M Gene-based pleiotropy across five major psychiatric disorders. D. R. Nyholt. 1140T Fine mapping of schizophrenia risk locus CSMD1 (rs10503253) in Indonesian samples revealed association with indels. D. B. Wildenauer. 1141S Transethnic HLA comparison in narcolepsy. H. M. Ollila. 1142M Comparative sequencing of the PARK2/ PARCRG/QKI locus in Early Onset Parkinson’s disease. W. C. Macedo.
1151M MAPT non-coding variation in neurodegenerative disorders. C. Labbé. 1152T 9.6% of mouse gene knockouts show abnormal neuroanatomy: a resource to identify genes related to intellectual disability in human. A. Mikhaleva. 1153S Homozygous deletions of non-coding transcriptional control sites in autism spectrum disorder. K. Schmitz-Abe. 1154M VGF as a potential target for Night Eating Syndrome. G. J. Wyckoff. 1155T Association of HTR2C gene variants with suicidal behavior: A case-control study and metaanalysis. C. A. Tovilla-Zárate. 1156S Replicative association analysis of schizophrenia in Russian population of Siberian region. A. Bocharova. 1157M GABAergic interneuron origin of Schizophrenia - a genetic association analysis in South Indian population. KR. Saradalekshmi. 1158T Parsing genetic associations in the MHC in schizophrenia. S. Mukherjee. 1159S Common and rare genetic risk factors converge in protein interaction networks underlying schizophrenia. X. Chang. 1160M Alzheimer’s Disease: Analyzing the Missing Heritability. K. L. Hoyt.
1143T Strategies for identifying new genes in autosomal recessive Parkinson’s disease. S. Lesage.
1161T Probing the shared polygenic underpinnings of anorexia nervosa and five other major psychiatric disorders. L. M. Huckins.
1144S Could somatic copy number alterations contribute to sporadic Parkinson’s disease? C. Proukakis.
1162S Genes regulated by epigenetic mechanisms in determining general intelligence (g) are overrepresented in disorders that affect cognition. P. Cha.
1145M Whole-genome sequencing to identify genes implicated in Familial Parkinsonian Tauopathy. M. Sanchez-Contreras.
1163M Novel Locus in 15q23 Implicated in Recovery after Severe Traumatic Brain Injury. Y. P. Conley.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS 1164T Long non-coding RNAs associated with synapse are differentially expressed in autistic bloods. W. Ju.
1166M Genetic influences on metabolite levels in Alzheimer’s Disease. P. Proitsi.
1181M Genome-Wide Association Study in APOE 4 Negative Subjects Identifies a Novel Locus in 17q21.31 for Alzheimer Disease. G. Jun. 1182T First GWAS in DBH confirms strong cisacting variants and lends support for its role as an intermediate phenotype in post-traumatic stress disorder. A. X. Maihofer.
1167T Genome-wide meta-analysis identifies three loci for common forms of epilepsy. J. P. Bradfield.
1183S Genome-wide association study of sensory disturbances in the inferior alveolar nerve after bilateral sagittal split ramus osteotomy. D. Nishizawa.
1168S Investigating polygenic contributions of common hippocampal variants to epilepsy predisposition. C. D. Whelan.
1184M Genes Involved in Brain Development Influence Crying Habits -A Genome Wide Association Study. C. Tian.
1169M Using polygenic risk scores of psychiatric disorders to predict Neuroticism. L. Colodro Conde.
1185T Identification of a novel locus for humandirected fear in dogs. K. Tiira.
1170T Machine Learning Derived Disease Risk Prediction for Anorexia Nervosa. Y. Guo.
1186S Genetic determinants of survival in patients with Alzheimer’s disease. X. Wang.
1171S Genome-wide Association Study of Quantitative Autistic Traits in the General Population. T. Nishiyama.
1187M Integrative systems approaches to deciphering the genetic landscape of late-onset Alzheimer’s disease. Y. Zhao.
1172M Diagnostic exome sequencing of patients with Autism Spectrum Disorder overwhelmingly detects mutations in newly characterized genes, which supports a de novo paradigm and the convergence of disrupted pathways in neurodevelopmental disease. Z. Powis. 1173T Common polygenic variation and risk for childhood-onset schizophrenia. K. Ahn.
1188T TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9ORF72 hexanucleotide repeat expansions. M. D. Gallagher. 1189S Gene subnetworks in cocaine-induced paranoia: Convergence between populations. C. Phokaew. 1190M A genome-wide screen for fear of heights susceptibility loci in a Finnish isolate. I. Hovatta.
1174S A psychometric GWAS finds specificity of variants associated with level and change in immediate and delayed verbal memory after age 60. T. E. Arpawong.
1191T Ancient human mtDNA variation is associated with Autism spectrum disorder in Europeans. D. Chalkia.
1175M GWAS analysis of Insight into illness in Schizophrenia. V. De Luca.
1192S Genome-wide association study of dementia with Lewy bodies. J. Bras.
1176T Genetic influences of language development in typically developing children and children with autism spectrum disorders. J. D. Eicher.
1193M The contribution of uncommon coding variants to risk for Alzheimer’s disease, frontotemporal dementia, and progressive supranuclear palsy: an exome array study of the multi-ethnic GIFT cohort. J. A. Chen.
1177S Genome-wide meta-analysis reveals significant association between CHRNA4 variants and nicotine dependence in cohorts of European ancestry. N. C. Gaddis. 1178M Identification of novel candidate genes in canine noise phobia -a model for human panic disorder. O. Hakosalo. 1179T Core-Exome Chip study of low-frequency variants identifies genome-wide significant hits associated with anorexia nervosa. K. Hatzikotoulas.
1194T A variant in Cadherin 1 (CDH1) achieves near genome-wide significance in African Americans using a liability model. J. Mez. 1195S A genome wide association study on fine motor speed. C. L. Satizabal. 1196M Variants near CCK receptors are associated with electrophysiological responses to pre-pulse startle stimuli in a Mexican American cohort. T. M. Norden-Krichmar.
1180S Multi-ethnic meta-analysis in a cohort of 110,266 individuals identifies novel shared and sex-specific loci associated with smoking initiation. E. Jorgenson.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS
1165S Evidence pointing to abnormal energy metabolism in two genetic animal models of epilepsy. A. H. B. Matos.
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1197T Large-scale genetic predictor of gene expression associated with risk of bipolar disorder. K. P. Shah.
1213S Whole Exome Sequencing in Females with Autism Implicates Novel and Candidate Genes. M. G. Butler.
1198S eQTL analysis of a large-scale RNA-sequencing cohort of schizophrenic and normal brains. S. K. Sieberts.
1214M Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotoniaseizures syndrome 3. M. Nakashima.
1199M A Spatiotemporal Systems Biology Approach to Understanding Autism Spectrum Disorder and Schizophrenia. A. J. Willsey.
1215T Common, low frequency, and rare coding variants in CHRNA5 contribute to nicotine dependence in European and African Americans. E. Olfson.
1200T Multiple system atrophy and spinocerebellar degeneration associated with mutations in the COQ2 gene. H. Sakamoto.
1216S Trio-based exome sequencing indicates the ion homeostasis is relevant to bipolar disorder. N. Matoba.
1201S Autosomal dominant cerebellar ataxia and mental impairment with a novel nonsense mutation of prkcg. H. Shimazaki. 1202M SPG7 mutations in a French-Canadian family affected by a recessive spastic ataxia. M. Tetreault. 1203T Discovery, validation and genotyping of CNVs by analysis of genome sequence and microarray. D. Antaki. 1204S Meta Analysis of Case/Control Autism Exome Sequencing Data. J. A. Kosmicki. 1205M Interstitial duplication Xp11.4 and triplication of Yq11.22 leading to disruption of TSPAN 7 and NLGN4Y in a child with autism. W. S. Baek. 1206T TRPM1, the transient receptor potential cation channel M1, harbors rare putatively damaging missense variants disproportionately transmitted to affected sibs in schizophrenia quads. S. Gulsuner. 1207S Screening for Mutations in Non-Syndromic Autosomal Recessive Intellectual Disability Genes in Non-Consanguineous Intellectual Disability and Autism Populations. X. Liu. 1208M Association study of TREM2 exon 2 variants with late-onset Alzheimer’s disease in Iranian elderly population. Z. Mehrjoo. 1209T Increased Genome-wide Burden of Rare Coding Variants in Schizophrenia. L. M. Olde Loohuis. 1210S Targeted sequencing of candidate genes identified in extended families with Alzheimer disease. J. Rehker. 1211M Identification of Molecular Markers in Parkinson’s Disease Using Next Generation Sequencing. S. M. Sperber. 1212T Mutation in the chromatin-remodeling factor BAZ1A is associated with intellectual disability. A. Zaghlool.
1217M Genome-wide analysis of copy-number variation in Canadian children with developmental coordination disorder implicates neurodevelopmental genes. F. P. Bernier. 1218T Copy Number Variation in Han Chinese Individuals with Autism Spectrum Disorder. M. J. Gazzellone. 1219S Next Generation Sequencing for the study of ALS and other Motor Neuron Diseases. C. Gellera. 1220M Exome sequencing of mesial temporal lobe epilepsy with hippocampal sclerosis in parentoffspring trios. S. S. Cherny. 1221T Homozygous mutation in Synaptic Vesicle Glycoprotein 2A gene results in intractable epilepsy, microcephaly, intellectual disability and growth retardation. A. Huq. 1222S Personalized medicine in the treatment of epilepsy. R. G. Lafreniere. 1223M Identification of rare variants from exome sequencing in a large family with dyslexia. A. CarrionCastillo. 1224T Analysis of major amyotrophic lateral sclerosis genes in Japan. R. Nakamura. 1225S De Novo Mutations in Autistic Children from Multiplex Families. C. L. Simpson. 1226M Differences in Genetic Features May Explain the Discordance of Monozygotic Twins for Schizophrenia. C. Castellani. 1227T Association analysis of MAPT with cerebrospinal fluid tau using targeted sequencing data in older adults with mild cognitive impairment or Alzheimer’s disease. K. Deters. 1228S Deep whole genome sequencing reveals multiple hits in non-coding sequence of autism risk genes. F. Hormozdiari.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS 1229M Exome sequencing in extended families with age-related macular degeneration reveals enrichment of genes involved in extracellular matrix pathway. R. Priya.
1245T Assessing the role of methylation in autism brains. S. E. Ellis. 1246S Methylation pathway and chromatin modification in autism. M. Smith. 1247M Mutation Screening in Saudi Parkinson’s Disease Patients. B. R. Al-Mubarak.
1231S Trio-Based Whole Genome Sequence Analysis of a Cousin Pair with Refractory Anorexia Nervosa. P. Shih.
1248T Genetics of dementias in a Turkish cohort. R. Guerreiro.
1232M Exome Association Study and 2nd SNP-GWAS of Japanese Parkinson’s disease. W. Satake.
1249S Mutation screening in exon 2 of synaptic gene SHANK3 in Brazilian individuals with Autism Spectrum Disorder. D.BA. Rosan.
1233T Identifying Genetic Variants Associated with Anorexia Nervosa via Exome Sequencing. Q. Wei. 1234S A Population-based Approach for Detecting Rare Recessive Variation Implicates the Cholesterol Biosynthesis Gene DHCR24 in Autism Spectrum Disorder and Intellectual Disability. E. T. Lim. 1235M Mutational and transcriptional analysis in Autism Spectrum Disorders support their oligogenic model disturbing common functional pathways. M. Codina-Solà.
1250M Variations in hotspot region of -amyloid precursor protein (APP) gene in various neurological disorders from Hyderabad, a cosmopolitan city of South India. W. Thomas. 1251T DYT16 revisited: exome sequencing identifies PRKRA mutations in a European dystonia family. M. Zech. 1252S Rapid multiplex sequencing of genes associated with progressive neurodegenerative disorders. M. O. Dorschner.
1236T Whole-exome sequencing of multiplex families identifies several rare coding variants in known and novel Late-Onset Alzheimer genes. B. W. Kunkle.
1253M Genome sequencing in X-Linked Ataxia Dementia. J. L. Farlow.
1237S Targeted resequencing of non coding functional DNA elements in autism. D. Malhotra.
1254T Prion disease with chronic diarrhea associated with PRNP mutation Q160X has reduced penetrance. J. C. Fong.
1238M Identification of Rare Variants for Bipolar Disorder by Exome Sequencing in Multiplex Families. S. Ramdas.
1255S Rare disease allele penetrance and lossof-function tolerance in a dominant disease gene: analysis of variation in >60,000 exomes. E. V. Minikel.
1239T A Cohort for Researching Autism Genetics in New Zealand. B. Swan.
1256M A novel insertion mutation of MAPT causes FTDP-17 with distinct pathology. H. Morino.
1240S Mutations in adaptor protein AP-5 subunits lead to peripheral neuropathy, spastic paraplegia and parkinsonism with aberrant endolysosomes. M. Madeo.
1257T Strategy to discover new ALS causative genetic variant in Japanese ALS patients. J. Sone.
1241M Targeted sequencing of African American autism spectrum disorder patients reveals loss of function variants in novel autism genes. P. Whitehead. 1242T Exome sequencing of 43 sporadic cases with an autism spectrum disorder in a local cohort of families identifies severe de novo variants and implicates additional genes in ASD pathogenesis. W. Banks. 1243S De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder. A. O. M. Wilkie. 1244M MEF2C haploinsufficiency is a recurrent finding in patients with autism spectrum disorders. A. Ziegler.
1258S Mutation detection in Amyotropic Lateral Sclerosis from RNAseq data. K. A. Staats. 1259M PRKAR1B mutation associated with a new neurodegenerative disorder with unique pathology. T. H. Wong. 1260T Transcriptome sequencing in bipolar disorder identifies a global downegulation in the anterior cingulate and dysregulation of G protein-coupled receptors. C. Cruceanu. 1261S Targeted-resequencing gene panels for the genetic diagnosis of spinocerebellar ataxia and spastic paraplegia in Italian patients. D. Di Bella.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS
1230T Large scale whole genome sequencing of Bipolar disorder 1 cases and controls in the BRIDGES study. L. J. Scott.
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1262M Deconstructing obsessive-compulsive disorder (OCD) by whole exome sequencing and integration of clinical endpoints and cognitive domains. L. Domenech.
1279S Genome-wide gene expression analysis of identical twins discordant for autism spectrum disorder. A. Saffari.
1263T Targeted sequencing of a visual migraine aura locus on chromosome 9q22. M. E. Hiekkala.
1280M A mouse model of 2q23.1 deletion syndrome implicates MBD5 in neuronal development. J. Young.
1264S Exome sequencing of familial agenesis of corpus callosum cases. L. Jouan.
1281T A key role for TDP2 in neuronal development and maintenance. J. H. M. Schuurs-Hoeijmakers.
1265M Rare Alleles Altering Schizophrenia Risk Occur in Exons and Noncoding Functional Sequences. E. K. Loken.
1282S Diagnostic assessment using next generation sequencing in extremely heterogeneous neurodegenerative disorders, hereditary ataxia and spastic paraplegia. Z. Iqbal.
1266T A targeted-resequencing approach for the genetic diagnosis of inherited peripheral neuropathies in Italian patients. S. Magri.
1283M Identifying biomarkers in chronic neuropathic pain. P. C. McHugh.
1267S Molecular Studies of mTOR and Tau pathways in Focal Cortical Dysplasia. M. G. Mazutti.
1284T Genetic diagnosis of neurological diseases using NGS - Report of 48 cases. D. Garcia.
1268M Evidence for association of CDH26 with Autism Spectrum Disorders. F. Mentch.
1285S Transcriptome analysis of distinct mouse strains reveals kinesin light chain-1 splicing as an amyloid beta pathology modifier in Alzheimer’s disease: A mouse-to-human translational approach to complex diseases. T. Morihara.
1269T Searching for a common founder - exome sequencing of sporadic early-onset Parkinson’s disease in Norway. A. H. Rengmark. 1270S Whole exome sequencing identifies MEOX2 as a candidate genetic factor in posterior cortical atrophy. E. C. Schulte. 1271M Exome sequencing identifies a novel missense mutation in MFN2 in familial dysautonomia. Z. Wei. 1272T Inherited and de novo Transposable Elements in schizophrenia. F. Macciardi.
1286M Circadian Network and Autism: Role of the JARID1 Genes. Z. Talebizadeh. 1287T RNA-sequencing and gene co-expression analysis identifies novel genes and pathways in bipolar disorder. N. Akula. 1288S GluD1 is over-expressed in iPSC-derived FOXG1 neurons: a potential common therapeutic target for Rett syndrome. S. Amabile.
1273S Evidence for differential X chromosome gene expression in children with sex chromosome aneuploidies. D. Hong.
1289M Phenotypic, molecular, functional and structural analysis of new DCX and LIS1 mutations causing the subcortical band heterotopia/lissencephaly spectrum. D. R. Amrom.
1274M Subcortical band heterotopia (double cortex syndrome) not associated with DCX or LIS1 gene mutations. E. Andermann.
1290T De novo TBR1 mutations in sporadic autism disrupt protein functions. P. Deriziotis.
1275T The astrocytic transporter Slc7a10 (Asc-1) is required for glycinergic inhibitory function. J. T. Ehmsen. 1276S Temporal mRNA expression profile of cyclooxiganase-2a and cyclooxiganase-2b genes in adult and larvae zebrafish brain after pentylenetetrazole-induced seizure. H. M. Gomide. 1277M Profiling gene expression in CFW mouse brains to refine our understanding of the genetic architecture of behavioral traits. S. Gopalakrishnan. 1278T Contiguous deletion of CADPS2 and GRM8 associates with severe autism spectrum disorder. C. Hatano.
1291S Analysis of actin cytoskeleton dynamics in stem cells from autistic patients. K. Griesi-Oliveira. 1292M Transcription and methylation reveals microglia related and non-coding RNA networks specifically altered in Dementia with Lewy Bodies. C. Humphries. 1293T Loss-of-function mutations of progranulin (PGRN) in siblings with familial FTLD. E. Vitale. 1294S Significant Enrichment of Disease-specific Polymorphisms surrounding microRNAs suggests further involvement in Schizophrenia and Bipolar Disorder. V. Williamson. 1295M The transcriptome of 16p11.2 syndrome patients uncovers a link between autism and ciliopathies. A. Reymond.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS
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1312S A polymorphic di-nucleotide repeat (DNR) variant in the 5’UTR of DPYSL2 gene affects its regulation via mTOR signaling. X. Pham.
1297S Gene expression and neuronal morphology in differentiating human induced Pluripotent Stem Cells (iPSCs) from individuals with chromosome 15q11.2 deletions. D. K. DAS.
1313M Functional analysis in C. elegans of candidate genes for schizophrenia. S. B. Pierce.
1298M Spatio-temporal 16p11.2 Protein Network Implicates Cortical Late Mid-fetal Brain Development and RhoA Pathway in Psychiatric Diseases. L. M. Iakoucheva. 1299T Transcriptome signature of schizophreniaassociated rare copy number variants (CNVs) in lymphoblastoid cell lines (LCLs). W. Moy. 1300S Functional analysis of GRIN2A mutations in childhood epileptic encephalopathies. L. Addis.
1314T New mutations of CYP2U1 in patients with spastic paraplegia and exploration of mitochondria dysfunctions. C. Tesson. 1315S Behavioral phenotyping of mice deficient in CHRNA7. J. Yin. 1316M Regulatory function of CACNA1C schizophrenia-associated variants. N. Eckart. 1317T Dysregulated Sonic Hedgehog signaling in MED12-related XLID disorders. S. Srivastava.
1301M Transcriptional regulation at the TREM gene cluster in AD brains. M. M. Carrasquillo.
1318S Transcriptome analysis of Lphn3 null mutant mouse brain and implications for ADHD and Addiction. D. Wallis.
1302T Polymorphism in the miRNA-433 binding site of FGF20 is a strong risk factor for Parkinson’s disease in Iranian population. S. Abtahi.
1319M Dual-marker lineage specific sorting in heterogeneous Parkinson’s disease patient-specific iPSC-derived dopaminergic neuronal cultures. K. Belle.
1303S Integration of miRNA-mRNA networks to elucidate the complexity of psychiatric disorders. C. Chen.
1320T Investigating the role of RBFOX1 in human stem cell-derived glutamatergic neurons. H. N. Cukier.
1304M Disruptions to the miRNA regulatory pathway may cause an increased rate of schizophrenia in individuals with 22q11.2DS. W. Manley. 1305T RNA-seq analysis reveals potential link between mammalian mitochondrial fatty acid synthesis (mtFAS II), RNA processing, and neurodegeneration. S. L. Mitchell. 1306S The Genetic Factors and Molecular Mechanisms Underlying Lewy Body Pathology in Alzheimer’s Disease. O. Chiba-Falek. 1307M REPS1 is a novel gene of Neurodegeneration with Brain Iron Accumulation. A. B. Drecourt. 1308T Impaired Function is a Common Feature of Neuropathy- Associated GARS Mutations. L. B. Griffin. 1309S Novel Cytoplasmic Roles for the RNA-binding Protein, TDP-43. R. Smith. 1310M Allelic expression analysis in the brain suggests a role for heterogeneous insults affecting epigenetic processes in autism spectrum disorders. E. Ben-David. 1311T GRIP2-mediated AMPA Signaling Defects Contribute to Autism Social Behavioral Deficits. T. Niranjan.
1321S Mutant dystrophin Dp71 78-79 stimulates cellular proliferation in the inducible system PC12 Tet-On. A. Herrera-Salazar. 1322M Prenatal malnutrition reprogrammed postnatal gene expression in mammals’ brain. JW. Xu. 1323T Gene expression profiling of human astrocytes treated with bexarotene and related compounds shows an increase in the neuroprotective cytokine GMCSF. R. F. Richholt. 1324S Persistent neurocognitive decline is associated with vascular and epithelial damage to the choroid plexus and -amyloid plaques in an outbred rat model. A. J. Wyrobek. 1325M No association between telomere length and exposure to life course stress or adversity in two longitudinal New Zealand cohorts. S. Jodczyk. 1326T Polymorphisms in the TCF4 gene interact with body mass index to influence lithium response among patients with bipolar disorder. E. Ryu. 1327S Multiple functional linear models and three dimensional functional principal component analysis for image-genetic data analysis in clouds. J. Jiang. 1328M Whole genome analysis of high-dimensional phenotypic data: Multiple testing in the context of genome-wide analysis. S. E. Medland.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS
1296T Transcriptome Profiling and Behavioral Analysis of a VIPR2-CNV Mouse Model of Schizophrenia. T. Chapman.
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1329T MicroRNAs associated with declarative memory phenotypes. J. Neary. 1330S Expanding the phenotypic spectrum of AFG3L2associated ataxia. A. Knight Johnson. 1331M Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies. S. Miyatake. 1332T Genetic enrichment of multiple sclerosis risk loci in multiple sclerosis patients with co-morbid diseases. M. F. Davis. 1333S Microbiome profiling in whole blood using RNAseq reveals disease-specific patterns. S. Mangul. 1334M COFS syndrome due to ERCC1 mutation without Nucleotide Excision Repair defect. Y. Capri. 1335T MindCrowd: web-based testing of 19,202 individuals suggests family history of Alzheimer’s disease is associated with decreased episodic memory performance in young adults. M. J. Huentelman. 1336S Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations. J. B. Vincent. 1337M Report of a Colombian family with new clinical features for autosomal dominant sleepwalking and night terrorsautosomal dominant. M. Lattig. 1338T The transcriptional regulator ADNP links the nBAF (mSWI/SNF) complexes with autism. F. Kooy. 1339S Prenatal and perinatal risk factors for autism spectrum disorders. A. Anhalt. 1340M Evidence of a Genetic Basis for Developmental Topographical Disorientation. S. F. Barclay. 1341T Genetic Basis of Dynamic Auditory Processing with Application to Reading Ability. J. F. Flax. 1342S Linkage analysis of IQ discrepancy in autism: an attempt to replicate. A. Q. Nato. 1343M Identifying endophenotypes associated with Age-related Macular Degeneration in the Amish. M. Pericak-Vance.
1347T Association of common variants in CCM genes with disease severity in familial Cerebral Cavernous Malformations Type 1. H. Choquet. 1348S Change of neuronal gene expression by administration of various anti-depressant in primary neocortical neurons. N. A. Nguyen. 1349M Premorbid psychiatric diagnosis in young persons with 22q11.2 deletion syndrome who later developed schizophrenia. E. Chow. 1350T Association between advanced paternal age and early onset of schizophrenia among sporadic cases. S. Wang. 1351S Cyclooxygenase-2 non-selective inhibitor prior to pentylenetetrazole-induced seizures increases the latency to seizure onset and decreased the number of seizures in zebrafish. P. Barbalho. 1352M miR-1202: A Primate Specific and Brain Enriched miRNA Involved in Major Depression and Antidepressant Treatment. J. P. Lopez. 1353T The NINDS Repository Biomarker Discovery Collection is a Public Resource for Neurodegenerative Disorders. G. Balaburski. 1354S SP1 inhibitors as modulators of APP and BACE1 levels in human cells: A novel drug target in Alzheimer’s disease. B. L. Bayon. 1355M Association of Serotonin 2c Receptor Polymorphisms with Antipsychotic Drug Response In Schizophrenia. J. Li. 1356T First case of Spinocerebellar Ataxia type 1 in a Mexican female. I. Cervantes. 1357S Allelic distribution of the normal ATXN10 gene in a sample of a Peruvian Amerindian population: an exploratory study. D. Veliz-Otani. 1358M Molecular characterization of genes modifying the age at onset in Huntington’s Disease in a group of patients from Uruguay. P. Esperon Percovich. 1359T Deregulation of specific microRNAs in whole blood and skeletal muscle of Myotonic Dystrophy type one patients. K. K. Ambrose.
1344T P54NRB/NONO mutations link intellectual disability to impaired gene expression and altered circadian rhythm. M. Langouet.
1360S FMR1-based “Double HIt” model and genomic studies in premutation carriers. R. Lozano.
1345S Gene expression analysis of methamphetamine addicted and schizophrenic patients in correlation with their psychiatric symptoms. A. Haghigatfard.
1361M Determination of the origin of Huntington disease based on haplotypes in a Peruvian population. I. Tirado.
1346M Early-onset Behr syndrome due to compound heterozygous mutations in OPA1. P. Amati-Bonneau.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS
Bioinformatics and Genomic Technology
1363M Detection and prediction of deleterious mutations affecting pre-mRNA processing. D. S. Hanna. 1364T An Integrative Approach to Identify Splice Factors and their Putative Upstream Regulators. M. Subramaniam. 1365S The Exome Coverage and Identification (ExCID) Report: a gene survey tool for clinical sequencing applications. C. Buhay. 1366M Scaled Sparse High Dimensional Tests for Localizing Disease Susceptible Sequence Variants. S. Cao. 1367T Serapis: an archival system for large-scale genetic data. I. G. Colgiu. 1368S Leveraging Genome Mapping in Nanochannel Arrays and NGS for a Better Human De Novo Sequence Assembly. H. Dai. 1369M Inference for high-dimensional feature selection in genetic studies. C. Ekstrøm. 1370T An integrated framework for sequence variant prioritization. B. Feng. 1371S Omics Pipe: A Computational Framework for Multi-Omics Data Analysis. K. Fisch. 1372M Tandem repeat sequencing error profiles and error correction models for short read sequencing data. A. Fungtammasan. 1373T Mitochondrial disease sequence data resource (MSeqDR) consortium: A Centralized Genomic Resource for Analyzing Genetic Variants of Individuals with Suspected Mitochondrial Disease. X. Gai. 1374S Using RNA-Seq to improve sensitivity/specificity of CNV calls made from whole-exome sequencing data. R. Golhar. 1375M Branch: An interactive, web-based tool for building decision tree classifiers. B. M. Good. 1376T Computational evaluation of the pathogenicity of noncoding sequence variants in autism spectrum disorder. A. J. Griswold. 1377S Similarity metrics for comparing exome sequence variants. V. Heinrich.
1378M Novel Integrative Genomics Approach for the Discovery of MicroRNA and mRNA Signatures and target Pathways in Prostate Cancer. C. Hicks. 1379T Medical re-sequencing analysis pipeline provides one-stop solution for identifying diseasecausing mutations of Mendelian disorders. H. Hu. 1380S A novel integrated analysis framework for detecting genome-wide changes in gene expression or regulation with next-generation sequencing data. W. Huang. 1381M Database of disease-associated genomic polymorphisms based on assessment of reproducibility between or within human populations. T. Imanishi. 1382T Semantic Similarity Analysis of Patient Phenotypes for Genome Wide Genetic Diagnostics. R. James. 1383S Efficient and accurate multiple phenotypes regression method for high dimensional genomic data considering the population structure. J. W. Joo. 1384M Using a Pan-Genome Reference for Sequence Alignment and Accurate Haplotype Discovery. D. Kural. 1385T Predicting functional regulatory variants from DNA sequence. D. Lee. 1386S DISTMIX: Direct imputation of summary statistics for unmeasured SNPs from mixed ancestry population. D. Lee. 1387M Detecting complex fusion transcripts in pediatric cancer using a novel assembly-based algorithm CICERO. Y. Li. 1388T Mixture modeling of next generation sequencing data and its application to estimating genotype frequency. J. Lihm. 1389S A high-performance database framework for fast and easy prioritization of disease related variants from Exome Sequencing data. B. Linghu. 1390M Analysis of Human neurodevelopmental disorders from the systems biology perspective using the Lynx Platform. N. Maltsev. 1391T Identification of differentially expressed genes and somatic mutations in esophageal adenocarinoma cancer patients. M. Matvienko. 1392S A Simple Method of Generating Reproducible NGS Workflows. M. Mikheev. 1393M Clinical whole-exome and whole-genome sequencing in dystonia: a key role for UMD knowledgebases. M. Miltgen.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS
1362S Event-level quantification of alternate splicing using junction reads identifies new splicing QTLs in RNA-seq data from 1000 Genomes Project samples. T. Bhangale.
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1394T A high-fidelity simulation validation framework for high-throughput genome sequencing with cancer applications. J. C. Mu.
1411M Pedigree Reconstruction by PRIMUS using Exome Sequencing Data. J. Staples. 1412T DbGaP Phenotype Quality Control. A. Sturcke.
1395S Accurate estimation of transcript isoform expression from RNA-Seq data by improved variational Bayesian inference. N. Nariai. 1396M Phy-Mer: A novel alignment-free and referenceindependent mitochondrial haplogroup classifier. D. Navarro-Gomez. 1397T Application of Machine Learning Techniques to Next Generation Sequencing Quality Control. S. M. Nicholls. 1398S Computational Medicine for Investigation the functional Sterol Regulatory Element Binding Protein-1 gene Polymorphism: a new challenge for Glucose6-phosphate dehydrogenase deficiency biology. A. Palasuwan.
1413S A case study for high throughput analysis of NGS data for translational research using Globus Genomics. D. Sulakhe. 1414M Targeted alignment and end repair elimination increase alignment and methylation measure accuracy for reduced representation bisulfite sequencing. Z. Sun. 1415T Unraveling epistatic causal genes of diseases with hyper-sensitive multiple testing procedure. A. Terada. 1416S Graphical algorithm for integration of genetic and biological data: Proof of principle using psoriasis as a model. L. C. Tsoi.
1399M Computational tools for discovery of patterns and associations in genetic and genomic data. P. Pavlidis.
1417M A population- and pedigree-aware alignment strategy for Next Generation Sequencing data. E. Valkanas.
1400T Sparse structural equations for joint phenotypegenotype network analysis. M. L. Rahman.
1418T My-Forensic-Loci-queries (MyFLq) BaseSpace application for analysis of forensic STR data generated by massive parallel sequencing. F. Van Nieuwerburgh.
1401S Human Splicing Finder: An invaluable system to annotate the impact of mutations on splicing signals. G. Raï. 1402M Plot: A tool to automatically summarise single variant analyses. N. W. Rayner. 1403T Network Modeling of Transcriptional Response to Influenza Vaccination. A. Renwick. 1404S A Novel Family-based Approach for Analysis and Interpretation of Exome Sequencing Data in Pedigrees. R. Robison. 1405M Improving Computational Prediction of Clinically Relevant Genome Variation. A. Rychkova. 1406T Cancer is a Zero Sum Game between Cells and Cells! A. R. Salehi Chaleshtori. 1407S UMD-Predictor: A variant annotation masterpiece for NGS pipelines. D. Salgado. 1408M SUGAR: high-resolution refinement of highthroughput sequencing reads considering their spatial organization in flowcells. Y. Sato. 1409T RaMWAS: Analysis software for rapid methylome-wide association studies. A. A. Shabalin. 1410S Genome and Transcriptome Free Analysis of RNA-Seq Data (GT-FAR) using cloud computing. T. Souaiaia.
1419S Identification of Somatic Mutations at SingleCell Resolution. X. Wang. 1420M Sparse functional graphical model for joint analysis of RNA-seq and DNA sequencing data. P. Wang. 1421T Swiss: a bioinformatics tool for identifying overlap between novel loci in GWAS scan results and a GWAS catalog. R. P. Welch. 1422S Churchill: An Ultra-Fast Analysis Pipeline for the Discovery of Human Genetic Variation in Clinical and Population Scale Genomics. P. White. 1423M Neat-optimal whole genome reconstruction by a small set of genomic variants. M. Xiong. 1424T Detecting Nuclear Receptors Using a Finite Mixture Model. M. Xu. 1425S Bayesian inference for tumour heterogeneity using the Hamming Ball Sampler. C. Yau. 1426M LVpicker: picking up true, low-frequency variants for studying cancer heterogeneity. J. Zhang. 1427T Efficient and accurate de novo assembly algorithm for paired-end reads and its application in indel calling. L. Zhao. 1428S PGS: a tool for association study of highdimensional microRNA expression data with repeated measures. Y. Zheng.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS 1429M FExSeq: A familial exome sequencing discovery pipeline. C. Chung.
137
1447M novoBreak: comprehensively characterizing somatic structural breakpoints in cancer genomes. Z. Chong. 1448T SG-ADVISER: CNV annotation pipeline. G. Erikson.
1431S Next-generation sequencing reveals the presence and positions of novel duplications in clinical samples. M. Kennemer.
1449S Challenges to CNV Detection in the Clinic using Targeted High Throughput Sequencing Data. S. Sadedin.
1432M OncoRep: An n-of-1 reporting tool to support genome-guided treatment for breast cancer patients using RNA-sequencing. T. Meissner.
1450M SAAS-CNV: A joint segmentation approach on aggregated and allele specific signals for the identification of somatic copy number alterations with next-generation sequencing data. Z. Zhang.
1433T Identification of transcriptional regulators associated with breast cancer risk. K. B. Meyer. 1434S Molecular docking simulations provide insights in the substrate binding sites and possible substrates of the ABCC6 transporter. O. Vanakker. 1435M A method for the discovery of long-range genomic interactions from 3C-seq experiments. T. Yuan.
1451T The new European Variation Archive Resource at EMBL-EBI. I. Medina. 1452S PON-P2, PON-Diso and PON-MMR: tools for prediction of variation pathogenicity. M. Vihinen. 1453M HLA-Genotyper Prediction of HLA Genotypes from Next Generation Sequencing Data. J. Farrell.
1436T Using a reference panel to increase coverage in pooled sequencing experiments. H. Al-Asadi.
1454T A Statistical Approach that Simultaneously Perform Variant Calling and Local Haplotyping Based on Phase-Informative Reads. K. Kojima.
1437S The DNA Integrity Number: A novel approach for objective integrity classification of genomic DNA samples. M. Gassmann.
1455S Kragle: a new local de novo assembler and genotype caller for short tandem repeats and other complex variations. K. Konvicka.
1438M Genomic susceptibility for cancer prediction by supervised machine-learning methods on SNP-syntax. S. Kim.
1456M Pipeline and variant annotation tool for identifying causal variants in inherited rare disorders. K. Kundu.
1439T A composite classifier for prioritizing somatic SNVs based on predicted functional impact, protein disorder, and gene expression. W. Liao.
1457T SVSI: A Fast and Powerful Set-Valued System Identification Approach to Identifying Rare Variants in Sequencing Studies for Ordered Categorical Traits. W. Bi.
1440S Barcode-based template identification of KIR region in human genomes. C. Lo. 1441M Network-Augmented Genomic Analysis (NAGA) applied to Cystic Fibrosis studies. S. Loguercio. 1442T Whole-Exon Haplotype Calling for Clinical NextGeneration Sequencing. J. Maguire. 1443S JADE: A tool for comparative analysis of spatially smooth genomic data. J. Morrison. 1444M Identifying causal noncoding variants using tissue-specific gene regulatory networks. K. Tan.
1458S A comprehensive empirical evaluation of linear mixed models for GWAS. D. Heckerman. 1459M Accelerating curation of the catalog of GWAS by automatic text mining. C. Hsu. 1460T GACT: A Tool for Predicting and Converting Genome Build and Allele Definition during Imputation and Meta-analysis of SNP Genotype Data. A. Sulovari. 1461S Applying compressed sensing to genome-wide association studies. S. Vattikuti.
1445T ClinSeK: targeted clinical variant identification from high-throughput sequencing data. W. Zhou.
1462M Cross-Phenotype Analysis of GWAS (CPAG): A powerful tool for detecting shared genetic architecture among human traits and underlying shared pathways. L. Y. Wang.
1446S Detection, Characterization, and Biological Analysis of Long Tandem Repeats Detected in Human Genomes Using Nanochannel Technology. S. Chan.
1463T GeneHeal: An Online Resource for Mutations and Associated Phenotypes in Deafness. A. Mehta.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS
1430T A novel approach to methylation-Seq data analysis based on functional principle component analysis (FPCA). S. Guo.
138
POSTER SESSIONS
1464S A fast and accurate method for detection of IBD shared haplotypes in genomewide SNP data. D. Bjelland. 1465M HapFerret: A flexible haplotype inference program, determining blocks of haplotype inferability. G. Nelson. 1466T A novel approach to craniofacial gene discovery: SysCLFT (Systems tool for Cleft lip/palate gene discovery). I. Saadi. 1467S Phenolyzer: prioritizing candidate genes from disease/phenotype descriptors. H. Yang. 1468M Determining the Number of Contributors using Forensically Relevant STRs: Effects of Template Mass and Complexity on the Ability to Correctly Identify the Number of Contributors. L. Alfonse. 1469T Detection of autozygous segments in exomes of inbred individuals. M. Vigeland. 1470S A systems biology approach for enriching genetic association studies of metabolite profiles with pathway knowledge. K. Willems van Dijk. 1471M Integration of transcriptome, bioinformatics and model organism studies to gain insight into microRNA function. S. Banfi. 1472T Enhanced statistical methods to detect cross-population heterogeneity at GWAS risk loci. M. Roytman. 1473S Regulatory network constructed from the epigenome of normal cells reveals functional connections between disease genes. R. F. Lowdon. 1474M Dynamic changes in RNA modifications (epitranscriptome) localization drives new regulation of cancer cells. Y. Saletore. 1475T An integrated method to predict functional impact of non-synonymous SNVs in human genome. M. Wang.
1480M Integrated Variant Comparison Using Three Different DNA-seq Analysis Methods. H. Beale. 1481T Predicting splicing mutations by information theory-based analysis in rare and common diseases: performance and best practices. N. G. Caminsky. 1482S PedigreeAnnotator: a GATK walker to annotate variants based on pedigree information. B. K. Cornes. 1483M GenAP workbench: aiding variant classification in clinical diagnostic settings. M. C. Eike. 1484T Hadoop Acceleration of Bioinformatics Algorithms. M. Gollery. 1485S Benchmarking of Strand NGS variant caller using a whole genome sample NA12878 and data from Genome in a bottle consortium. R. Hariharan. 1486M Accurate detection of low-representation alleles in tumor DNA through augmented exome and transcriptome sequencing. E. Helman. 1487T Genomic Analysis of Blood-mediated Disorders in African Americans. L. Jackson. 1488S In silico prediction of splice-altering single nucleotide variants in human genome. X. Jian. 1489M High-accuracy imputation for HLA class I and II genes based on genome-wide SNP data of populationspecific references. S. Khor. 1490T LNCScore: a machine-learning approach for novel lncRNA discovery from RNA-Seq data. J. H. Kim. 1491S Biomarker Discovery From RNA-seq Data Using a Biologist-Friendly Analysis Platform. B. Lee. 1492M PARADIGM-SHIFT predicts the functional impact of ‘driver modules’ in multiple cancers using pathway impact analysis. S. Ng. 1493T Geneious R7: a bioinformatics platform for biologists. C. Olsen.
1476S Identifying the master regulators of complex autoimmune disease susceptibility in Alopecia Areata with reverse-engineered regulatory networks. J. C. Chen.
1494S Assembly Hubs and Genome Browser in a Box Makes Viewing Private Annotations and Custom Sequences Easy. B. J. Raney.
1477M Global profiling of condition specific transcription factor binding with ATAC-seq. R. PiqueRegi.
1495M Comparative transcriptome analysis reveals a proangiogenic compensatory mechanism for increased placental vascularization in women with reduced vasodilation. L. M. Rodriguez.
1478T A comprehensive and highly accurate RNASeq pipeline using a hybrid sequencing and algorithm approach. P. T. Afshar.
1496T Pilot data from the Virtual Genomics Clinic (VGC). J. V. Thakuria.
1479S Typing of PRDM9 in childhood cancers from Next Generation Sequencing data. A. Ang Houle.
1497S Mega2: data reformatting for facilitating genetic linkage and association analyses. D. E. Weeks. 1498M Single Cell RNA-Seq analysis of Tumor Composition. I. Ragoussis.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS
139
1516M Prediction consequences of amino-acid substitutions in the IDS gene using in silico tools. A. C. Brusius-Facchin.
1500S Discovery and validation of mechanistic underpinnings of cis-regulatory variants underlying FTO association with type 2 diabetes and obesity risk. M. Claussnitzer.
1517T Investigating the relationship between allele frequency of benign variants used in training mutation impact predictors and their stringency at calling deleteriousness. A. Carroll.
1501M Fast and Accurate Site Frequency Spectrum Estimation from Low Coverage Sequence Data. E. Han.
1518S Developing a new approach to transcriptomic characterization of mesial temporal lobe epilepsy models through next-generation sequencing. B. S. Carvalho.
1502T Parallelization of genome-wide local ancestry inference. R. Johnson. 1503S CliniCall - Bridging the Gap From HighThroughput DNA Sequencing to Actionable Variants. S. McGee. 1504M A Comparison of Genomes and Exomes and the Impact on the Incidentalome. E. G. Farrow. 1505T Diploid Alignment of Whole Human Genome Data. P. J. Pemberton. 1506S Evaluation of INDEL Callers for Next-Generation DNA Sequencing Data. R. L. Goldfeder. 1507M Relationship detection with high-density SNP genotypes obtained from sub-nanogram amounts of fragmented DNA. D. J. Witherspoon. 1508T Quantifying mitochondrial copy number using next-generation sequencing data. P. Billing-Ross. 1509S An accurate and integrative computational approach for cancer genome studies. L. T. Fang. 1510M Accurate Randomized Dimension Reduction with Applications to Linear Mixed Model Corrections of eQTL Data. G. Darnell. 1511T Evaluation of a genotyping array design for tagging common variation across Africa. T. Carstensen. 1512S StrandOmics: Accelerating clinical interpretation and reporting though integration of genomic, structural, functional and phenotypic information. S. Agrawal.
1519M Comparative analysis of computational pipelines for RNA sequencing in genetical genomics studies. J. Chen. 1520T Bioinformatic analysis of novel pathogenic missense mutation of ARSB gene in a Colombian patient with Maroteaux -Lamy. G. Giraldo. 1521S Simultaneous detection of copy number variations (CNV) and point mutations with next generation sequencing (NGS) using Agilent HaloPlex custom designs. C. Haag. 1522M Gene-based burden analysis of imputed low frequency variants identifies associations with LDL in an African American cohort. H. Hakonarson. 1523T NIH Genetic Testing Registry (GTR): A data mine available through programmatic access. B. Kattman. 1524S Impact of statin on gene expression in human lung tissues. J. Lane. 1525M A network approach to investigate the respective roles of common and rare variants in Attention-Deficit/Hyperactivity Disorder. L. A. Lima. 1526T Optimizing an imputation panel for admixed Latin American populations. W. Magalhães. 1527S Functionally characterizing common variants associated with psychiatric disorders. J. Moore. 1528M A network-based approach to dissect the cilia/ centrosome complex interactome. M. Morleo.
1513M Performance survey of protein mutational prediction methods. D. A. Baird.
1529T Identification and Clinical Assessment of Deletion Structural Variants in Whole Genome Sequences of Acutely Ill Neonates. A. C. Noll.
1514T A bioinformatics approach to prioritizing candidate explanatory variants in whole genome sequences from patients affected with rare diseases. D. Bodian.
1530S Protein functional domain annotation in single gene association in Parkinson Disease. K. Nuytemans.
1515S Comparisons on whole exome capturing homogeneity among different versions of capturing kits and populations. M. G. Borges.
1531M Large pedigrees in human sequencing studies: toward a more resolved and accurate picture of genetic disease. J. A. O’Rawe. 1532T Novel bioinformatics driven imaging-genetics approach exploring the aetiology of Alzheimer’s disease. S. Patel.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS
1499T Standardized phenotyping enables rapid and accurate prioritization of disease-associated and previously unreported sequence variants. W. P. Bone.
140
POSTER SESSIONS
1533S Non-coding RNAs and transcription expression underlying neuropathic pain following sciatic nerve injury. H. B. Raju. 1534M Unrevealing the genomic architecture of chromosomal breakpoint region using multiparametric computational approach. R. M. Rawal. 1535T Assessing the hidden genome architecture of structural variants with Globus Genomics Galaxy pipelines. A. Rodriguez. 1536S Integrative Analysis of Cancer Genetic Data for Drug Discovery. S. Saisanit. 1537M Identification of differentially methylated genes potentially associated with neurological diseases. W. Souza. 1538T Genome-Wide Association Study Of Cerebrospinal Fluid Prostatic Acid Phosphatase Levels. L. A. Staley. 1539S European Psoriasis Differences are Defined by Variation in the Epidermal Differentiation Complex. C. E. Tanes. 1540M Exploiting whole exome-seq data for variant discovery from highly divergent regions in the human genome. S. L. Tian.
1549M A `-cell specific protein subnetwork significantly enriched for association with GLP-1 stimulated insulin secretion: A DIRECT study. V. Gudmundsdottir. 1550T Analysis of Whole Exome Datasets to Test the Hypothesis of Digenic Inheritance in Stargardt Disease. K. Lee. 1551S Efficiency of exome sequencing for the molecular diagnosis of Pseudoxanthoma Elasticum. M. j. Hosen. 1552M Unraveling Genetic Architectures Spanning Mendelian and Complex Phenotypes with Data Driven Electronic Medical Record Validation. B. S. Glicksberg. 1553T Integration of GWAS signals, measures of polymorphic structure and linkage disequilibrium to discover clinically relevant biomarkers and improve identification of causal variants. M. W. Lutz. 1554S The Utah Genome Project is successfully discovering and diagnosing genetic disease using VAAST, pVAAST and Phevor. M. V. Singleton. 1555M GWAS analysis of epigenetic age acceleration. A. Lu. 1556T Differentially Expressed Genes in Asthma Differ by Tissue-type. T. B. Mersha.
1541T An in silico Post-GWAS Analysis of C-Reactive Protein Loci: a Pipeline of Sequential BioinformaticsBased Approaches. A. Vaez.
1557S Smoking-related microRNAs and mRNAs in human peripheral blood mononuclear cells. M. W. Su.
1542S The Variant Characterization of 211 Whole Genome Sequences: The Cache County Study on Memory Health and Aging. M. E. Wadsworth.
1558M The mitochondrial mutational landscape of human cancer and its impact on tissue- and tumorspecific gene expression. S. Grandhi.
1543M Genome-wide haplotype-based association study in Chinese Han population identified novel susceptibility locus for systemic lupus erythematosus. Y. Wang.
1559T Somatic Mutation Detection by Whole Exome Sequencing in Patients with Adult-onset Still’s Disease. Z. Deng.
1544T Next-Generation Sequencer Analysis: The Accurate Somatic SNV Detecting Workflow. M. Yamaguchi. 1545S Identification of recurrent drive gene fusions in melanoma using RNA-Seq data. T. Zhang. 1546M Application of gene expression deconvolution to the translation of gene expression signatures from pre-clinical models to the clinic. C. Campbell. 1547T Whole Exome Sequencing in Two Siblings with Developmental Regression and Hypermetabolism. S. Jougheh Doust. 1548S Genome-wide association study of serum metabolites using non-targeted metabolomics to identify new metabolic loci. L. Lind.
1560S Weighted gene co-expression network analysis suggests white matter might play a role in epilepsy and episodic motor disorders. L. Silveira-Moriyama. 1561M Novel intergenic large non-coding RNAs (lincRNA) in Human Retina and RPE/Choroid. L. Tian. 1562T Gene variant modification in keratinocyte cell samples irradiated by UV using RNA-seq. V. Mijatovic. 1563S TRRUST: A reference database of human transcriptional regulatory network. H. Han. 1564M MokaSeq: Initial validation of the sequence analysis module of an NGS software platform for clinical diagnostics. J. W. Ahn. 1565T Combining callers across different sequence contexts improves somatic SNV detection. K. Arora.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS
141
1584S Detection of Copy Number Variations in Cancer Genomes from High Throughput Sequencing Data. G. Klambauer.
1567M Reducing INDEL errors in whole-genome and exome sequencing. H. Fang.
1585M Efficient variant pipeline for diagnosis of inherited cardiomyopathies associated genes using Ion Torrent PGM™ platform. L. Cerdeira.
1568T Single-nucleotide mosaicisms in whole-genome sequences of clinically unremarkable individuals. Y. Huang. 1569S A Next-Gen Sequencing Software Workflow for Gene Panel Validation Control. M. Keyser. 1570M Whole Genome Sequencing of 30 Admixed Brazilians. M. Machado. 1571T IntSplice: A tool to predict aberrant splicing of an SNV at intronic positions -50 to -3. K. Ohno. 1572S Next generation sequencing approach to molecular diagnosis of auto-inflammatory diseases: from gene panel design to variant call. M. Rusmini. 1573M From NGS back to Sanger Sequencing: Connecting and Synchronizing NGS and CE Variant Files with the Primer Designer Tool. E. Schreiber. 1574T A practical method to detect SNVs and indels from whole genome and exome sequencing data and an importance of in-house data for variant filtering. D. Shigemizu. 1575S Group-based Variant Calling for a Large Cohort of Human Whole Genomes Leveraging NextGeneration Supercomputing. K. A. Standish. 1576M Repeat-Aware Hidden Markov Models for the Comprehensive Joint Calling of SNPs, Indels, and Short Tandem Repeats. A. Tan. 1577T Describing complex rearrangements using HGVS sequence variation nomenclature, suggested extensions. P. E. Taschner. 1578S Comparing variant filters from transcriptome and exome sequencing data. N. Thomson. 1579M Combining sets of indels with improved specificity and sensitivity using BAYSIC. D. Weaver. 1580T CNV Detection Assessment. J. White. 1581S Cloud-based variation analysis using SRA sequencing data directly. C. Xiao. 1582M Low false-positive rate chromosomal structural variation detection procedure with statistical comparisons between case and control using pairedend reads. K. Yamagata.
1586T Assessing novel centromeric repeat sequence variation within individuals by long read sequencing. K. H. Miga. 1587S Anchored Assembly: An algorithm for large structural variant detection using NGS data. J. Bruestle. 1588M Short inversion detection by splitting and realigning poorly mapped next-generation sequencing reads. R. Chen. 1589T Reproducible and repurposable toolkit of structural variant callers applied to 3,751 whole genomes and 10,940 whole exomes. S. Ma. 1590S Orthogonal Resequencing Support of Structural Variation in a Personal Genome. W. J. Salerno. 1591M Copy Number Variation Analysis using Single Cell Sequencing. X. WANG. 1592T A Convergent Clinical Exome Pipeline Specialised for Targeted Gene Analysis. J. Plazzer. 1593S An ensemble variant calling approach to 10,000 low coverage whole genomes. Z. Huang. 1594M Likelihood-based filtering of indels and structural variants by leveraging Mendelian inheritance and transfer learning. H. Kang. 1595T Strength in Numbers: Efficiency and Quality Improvements in Clinical Whole Genome Interpretation. E. Ramos. 1596S Effective filtering strategies to improve data quality from population-based whole exome sequencing studies. E. Smith. 1597M Computational validation of NGS variant calls using genotype data. M. A. Taub. 1598T Blood vs Saliva: Analysis of the Effect of Sample Type on Variant Calling Confidence for Human Whole Genome Sequencing. M. Tayeb. 1599S High resolution HLA genotyping software for exome and whole genome sequencing data. K. Kryukov. 1600M Using haploid human DNA to design and evaluate the HiSeq X data processing strategy. M. O. Pollard.
1583T Multiplexing strategies for HLA genotyping using DNA barcoding methods for SMRT® sequencing. S. Ranade.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS
1566S Functional interpretation of variant and nonvariant positions in whole-exome sequencing data. M. Delledonne.
142
POSTER SESSIONS
1601T Genotyping Complex Markers for Drug Absorption, Distribution, Metabolism and Elimination with the Axiom® Genotyping Platform. J. Gollub.
1618M Naturally Hyperactive Transposase and its Application to High Coverage Whole Genome Sequencing With Low DNA Input. A. Belyaev.
1602S PHENOVAR: a phenotype-driven approach to facilitate routine utilization of clinical exome sequencing for the diagnosis of polymalformative syndromes. C. Buote.
1619T Exome Capture with Accelerated Hybridization Provides Same-Day Generation of High Performance Target-Enriched NGS Libraries. M. C. Borns.
1603M Single molecule reconstruction and variant detection of less than 1 genome in 1000. K. R. Covington. 1604T Detection of common and low frequency variants in cancer samples with SNPPET using NGS target enrichment data. A. Lnu.
1620S A comprehensive comparison of commercially available hybridization and amplification based exome enrichment methods. T. Guettouche. 1621M Korean Reference Genome Project: Design and Population Genome Variants. K. Hong. 1622T Resolving the ‘Dark Matter’ in Human Genomes through Long-Read Sequencing. J. Korlach.
1605S Identification of common non-synonymous SNPs in proteomic datasets and their use to obtain measures of individualization and biogeographic background. G. Parker.
1623S A new method for low-input, PCR-free NGS libraries with exceptional evenness of coverage. L. Kurihara.
1606M SNP and CNV Detection in Trisomy 21 Individuals Using a First-Principles Approach. Y. A. Jakubek.
1624M Understanding and adopting updates in the human reference genome assembly (GRCh38). V. A. Schneider.
1607T Variant Detection and Validation in RNA-Seq Data. F. Schlesinger.
1625T The Ion PGM™ Hi-Q™ Sequencing Polymerase: Reducing Systematic Error, Increasing Accuracy, and Improving Read-length. P. B. Vander Horn.
1608S An Evaluation of Splice Prediction Software Accuracy Using in vivo Data from Patients with Osteogenesis Imperfecta. J. Schleit. 1609M Higher power and efficiency of whole genome sequencing over whole exome sequencing to detect SNVs in exonic regions. A. Belkadi. 1610T Evaluation of the Illumina NextSeq500 for Rapid Whole Genome Sequencing. S. Dames. 1611S Benchmarking of DNA short read aligners on GCAT data sets. R. Gupta. 1612M A comparison of commonly used alignment algorithms using 15 whole genome sequences. B. D. Pickett. 1613T A comprehensive comparison of RNA-seq and microarray in transcriptome profiling of rat livers exposed to a broad range of agents. C. Wang. 1614S Implementing an NGS Bioinformatics Pipeline: Making the Transition from Research to Clinical. L. Watkins. 1615M Amplicon based 16S ribosomal RNA Sequencing and Species Identification. J. Dickman. 1616T Super-resolution imaging technique mbPAINT for DNA optical mapping. J. Chen. 1617S Greatly improved de novo assemblies of eukaryotic genomes using PacBio long read sequencing. E. Antoniou.
1626S Third generation sequencing and analysis of complete mitochondrial genomes. E. P. Hoffman. 1627M Full-length, single molecule whole transcriptome sequencing reveals alternative 5’start sites, splicoforms, and poly(A) addition signal sequences. D. J. Munroe. 1628T Preliminary analysis for the evaluation of risk prediction methods using SNP-based genomic profiles data. R. Arguello. 1629S Development of a comprehensive, ontologydriven phenotyping system and web-based patient registry for Fanconi anemia. A. D. Auerbach. 1630M RD-Connect platform and standardized exomephenome analysis pipeline: application to 20 use cases. S. Beltran. 1631T Pathway approaches to strengthen genetic variation analysis. E. Cirillo. 1632S Mutiple-trait genomic selection and phenotype prediction. A. Dahl. 1633M Scaling up genomic data management, indexing, and analysis for a million genomes. F. De La Vega. 1634T ClinGen database for curation of clinically relevant genomic variants. X. Feng.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS 1635S Efficient sharing of exome/genome variant and phenotype data between diagnostic labs. I. F. A. C. Fokkema.
1637T Functional interpretation of noncoding somatic variants from cancer genomes. E. Khurana. 1638S Update and expansion of Human Variation Database in Japanese Database Integration Program. A. Koike. 1639M Exploring the genome-wide roles of transcription factors and their complexes in chromosome interaction. MJ. Li.
1652T Metadata-driven tools to access data from the ENCODE project. E. T. Chan. 1653S Accessing ENCODE project data using a REST API and JSON. C. A. Sloan. 1654M Beyond Flat Files: Creating a web-based data API to simplify parsing and distribution of GTEx data. T. Sullivan. 1655T Association data in dbGaP and MinimumRequired Information for Data Sharing. Z. Wang. 1656S Genome in a Bottle: So you’ve sequenced a genome, how well did you do? J. M. Zook. 1657M Quantity or quality that is the question: integrative genome-wide association. A. M. Mezlini.
1640T Comparing blood and brain gene expression networks in Huntington’s Disease by semantic analysis. E. Mina.
1658T Cross-species genome and epigenome visualization on WashU EpiGenome Browser. X. Zhou.
1641S Genetic Risk Prediction and Neurobiological Understanding of Alcoholism. A. Niculescu.
1659S The Bio-LarK Patient Archive - Systematic phenotype data collection for Rare Disease Genomics. A. Zankl.
1642M Analyst Portal - a real-time, distributed web query tool that streamlines data search at a genomics center. H. Qiu.
1660M Genetic predictive modeling of diabetes based on circulating glycemic measures. The Long Life Family Study (LLFS). A. T. Kraja.
1643T Phenotype terminologies in use for genotypephenotype databases: A common core for standardisation and interoperability. P. N. Robinson.
1661T Changing patient behavior through comprehensive risk analysis with genomic and health data. H. Fakhrai-Rad.
1644S Data exploration through stark visualizations in gene expression profile of down syndrome. J. Rualo.
1662S Discover and access human genome sequence with new NCBI services. S. Sherry.
1645M Evaluating global enrichment of trait-associated variants in epigenomic features. E. Schmidt.
1663M GenomeBrowse: A Comprehensive CommunityDriven Visualization Platform for NGS data and Public Annotations. G. Rudy.
1646T A bioinformatic protocol for the study of rare diseases. F. Tobar Tosse. 1647S EnhancerDB: a database of human enhancers and their putative targets. P. Wang. 1648M A highly efficient and scalable compute platform for massive variant annotation and rapid genome interpretation. J. Warren. 1649T Investigating the genetic architecture of pulmonary arterial hypertension shared with other diseases. L. A. Yancy. 1650S Integrative genomic analysis of exome and RNA-seq data from multiple tissue sources obtained from a single breast cancer patient. A. Vladimirova. 1651M Limitation of multiple testing through the integration of TCF7L2 DNA occupancy and SNP association data reveals GIP and CPPED1 as novel type 2 diabetes loci. M. E. Johnson.
1664T A mutation in TBC/LysM associated domain containing 1 (Tldc1) causes craniofacial abnormalities in mice. R. Zeng. 1665S Completing CpG methylation statuses in human and vertebrate genomes by integrating SMRT sequencing kinetic data. S. Morishita. 1666M Sequencing of 50 rhesus macaques facilitates identification of new genetic models of human disease. G. Fawcett. 1667T Identifying mouse models related to human disease. S. Rockwood. 1668S FlyNet: a genome-wide functional gene network for Drosophila melanogaster as a platform to explicate human GWAS gene candidates. J. Shin. 1669M Benchmarking of isoform quantification tools for GTEx using long read technologies. D. S. DeLuca.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS
1636M Design and Implementation of an Informatics Infrastructure for Clinical Genomics Analysis and Reporting. J. Hirsch.
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POSTER SESSIONS
1670T Droplet Digital PCR: A new tool for quantitative analysis of alternatively spliced mRNAs and pre-mRNA processing. G. Karlin-Neumann.
1688T Examination of the Performance of Whole Genome Amplified DNA across Multiple Capture Methodologies and Sequencing Platforms. B. Hicks.
1671S Approach for limited cell ChIP-Seq on a semiconductor-based sequencing platform . S. Ghosh.
1689S Improved Exclusion Amplification Chemistry Supports Sequencing TruSeq PCR-free Libraries for Human Whole Genome Sequencing on Illumina’s HiSeq X Ten System. A. C. Kwasniewska.
1672M GEM.app: using hadoop to empower the revolution of large-scale collaborative analysis and data-sharing in the genomic age. M. Gonzalez. 1673T A Data Driven Approach to Precision Medicine. P. Lum. 1674S Improved Small RNA Library Preparation Workflows for Next-Generation Sequencing. S. Shore. 1675M Enhanced fetal aneuploidy detection using hardware accelerated alignment. M. Sykes. 1676T Platform comparison between Ion Proton and Illumina HiSeq 2500 on a 759-gene disease panel across 248 samples. A. V. Uzilov. 1677S Sparse sufficient dimension reduction and matrix subset selection methods for big image data analysis in cancer. N. Lin. 1678M A Genomics Analysis Pipeline for Cloud Computing. R. J. Mashl. 1679T A Comprehensive Bioinformatics and Data Management Platform to Enable High Powered Genomic Discovery. J. Kaufman. 1680S Validation of a Series of Genomic StripAssays® to Salivary DNA Collection Using the DNA•SAL™ Device. P. D. Slowey. 1681M Direct to PCR Genomic Analysis Using Saliva Derived Samples. G. A. Thomas.
1690M Lower Cost, Higher Throughput Library Preparation with the Echo liquid handler® and the NuGEN Ovation® Single Cell RNA-Seq System. J. D. Lesnick. 1691T Low to mid-throughput automation of hybridization based capture technologies using Apollo 324 NGS Library Prep System. M. Srinivasan. 1692S Sequencing Beyond the Read Length Officially Supported on HiSeq 2500: the Error Profile and Remedy. W. Wang. 1693M Genome-wide transcriptome enrichment sequencing for research and clinical applications. H. Doddapaneni. 1694T Whole Genome Sequencing on DNA extracted from Saliva: a systematic evaluation of SNV, CNV and Structural Variant Calling. S. Germer. 1695S Precise Quantification of Bias in Whole-Genome Amplification Using Droplet Digital™ PCR. N. Heredia. 1696M ThruPLEX-FD as high sensitivity library prep tool for whole exome and target panel sequencing. J. P. Jerome. 1697T Identify enhancer elements at genome-wide scale using MIT-seq. X. Wu.
1682T Spatially Encoded Assays. M. S. Chee.
1698S Contiguity Preserving Transposition Sequencing (CPT-seq): Haplotype-resolved sequencing and assembly. J. Fisher.
1683S Development of a novel methodology for RNAmicrobiome enrichment. L. Ettwiller.
1699M A Method for Selectively Enriching Microbial DNA from Contaminating Vertebrate Host DNA. E. Yigit.
1684M Extremely low-coverage whole genome sequencing in South Asians captures population genomics information. N. Rustagi.
1700T Woman endometrium biopsy immediate singlecell analysis. K. Krjutskov.
1685T Advancing Clinical Diagnostics Using Whole Exome Sequencing. D. Muzny. 1686S Next generation sequencing in a diagnostic laboratory: Pros and cons of enrichment technologies. B. P. Dworniczak. 1687M Unique Haplotype structure determination in human genome using Single Molecule, Real-Time (SMRT) sequencing of targeted full-length fosmids. K. Eng.
1701S High Accuracy Variant Detection using HaloPlex with Molecular Barcodes. h. johansson. 1702M Immune sequencing protocol for complete B-cell and T-cell repertoire sequencing. F. J. Stewart. 1703T Optimized DNA extraction and repair improves the yield and quality of sequencing libraries derived from FFPE samples. L. Chen. 1704S Targeted enrichment of forensically relevant STRs for improved human DNA profiling. M. R. Nandineni.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS 1705M Spatially resolved single cell miRNA expression analysis in tissue sections. M. Asp.
Statistical Genetics and Genetic Epidemiology
1707S Design of a biobanking genotype array optimised for Chinese populations. R. G. Walters.
1722S Identification of rare causal variants in sequence-based studies: methods and applications to VPS13B, a gene involved in Cohen syndrome and autism. I. Ionita-Laza.
1708M High Performance Micro RNA Enrichment using Solid Phase Reverse Immobilization Magnetic Bead Technology. B. N. Lee.
1723M Effect of Haplotype Estimation in Exact Tests for Association. L. Ehwerhemuepha.
1709T Standardizing High-Throughput Sequencing of Extracellular RNA from Human Plasma. Y. E. Wang. 1710S RNA “SEQing” answers in the blood transcriptome: Benchmarking methods for globin message reduction. N. Allaire. 1711M Very Low Input RNA-Seq is Enabled by Digital Microfluidics. T. M. Hill.
1724T Bootstrap Tests of Association For NextGen Sequence Data That Allow for Systematic Differences in Read Depth between Cases and Controls. G. A. Satten. 1725S Binary Trait Analysis in Sequencing Studies under Trait-Dependent Sampling. Z. Z. Tang. 1726M Functional regression for genetic association studies. O. Vsevolozhskaya.
1712T Analysis of PCR duplicates and Library Diversity in RNA-Seq studies using very low input and degraded samples. S. Pathak.
1727T A Generalized Similarity U test with application to multiple-trait sequencing association study. C. Wei.
1713S SureSelect Clinical Exome Panels for NGS Research Applications. E. Lin.
1728S Utilizing Private Variants in Large Genome-Wide Association Studies: Issues, Techniques, Experiences. U. Bodenhofer.
1714M Flexible Content TaqMan® Pathway Panels. M. Laig. 1715T Design and implementation of a transplantationtargeted whole genome genotyping array. A. Shaked. 1716S Performance of seven mutation pathogenicity prediction methods in the classification of missense variants of the CYP1B1 gene. G. Chavarria-Soley. 1717M A Comprehensive IT System to Support GTEx Biospecimen Collection Operations. P. Guan. 1718T Clinical phenotype-based gene prioritization using semantic similarity and the Human Phenotype Ontology. A. Masino. 1719S The Orphanet Rare Diseases Ontology (ORDO) : a reference tool integrating clinical and genetic data. A. M. Rath. 1720M Comprehensive Transcriptome Analysis Reveals that Nonsense-Mediated mRNA Decay Is Not Globally Suppressed in Lung Adenocarcinomas. L. Hu. 1721T Combined use of mutant loxP sites, JT15 and JTZ17, is a useful approach for sophisticated genome engineering. K. C. Chen.
1729M A non-threshold region-specific method for detecting rare variants. D. P. Chen. 1730T Evaluating the calibration and power of three gene-based association tests for the X chromosome. C. Ma. 1731S Exploiting correlation of genetic effects in rare variant association studies. M. A. Rivas. 1732M Integrated statistical model of genetic variation reveals new insights into the genetics of autism. X. He. 1733T Meta-Analysis of rare variants association studies with multiple correlated traits. X. Wang. 1734S Haplotype length regression for identifying rare disease-predisposing variants. S. P. Sajuthi. 1735M A fast and powerful test of independent assortment with implications for the analysis of ‘big data’. V. Hager. 1736T Generation of sequence-based data for pedigrees-segregating Mendelian or Complex traits. B. Li. 1737S GenLib: an R package for the analysis of genealogical data. M.-H. Roy-Gagnon. 1738M Genotype calling and phasing in sequence data from complex families. L. Chang.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS
1706T Microbial detection using Affymetrix’ Axiom® Genotyping Solution. M. Shapero.
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POSTER SESSIONS
1739T Assessing mitochondrial DNA variation and copy number in lymphocytes of 2,077 Sardinians using tailored sequencing analysis tools. J. Ding.
1756M Genome-wide association study in West Africans identifies SEMA4D as a susceptibility gene for Obesity. G. Chen.
1740S Improving effective sample size using extrapolated log p-values. B. Engelhardt.
1757T Effect Fine Mapping: a method to identify association-driving variants in large genomic datasets. N. A. Patsopoulos.
1741M Alternative peak calling methods on Hi-C data accommodating the whole spectrum of dispersion. Z. Xu. 1742T Haplotype based fine mapping algorithms using meta-analysis summary results. J. Zheng. 1743S PedBLIMP: A Linear Predictor based Approach to Impute Genotypes in Pedigrees. W. Chen. 1744M Detecting maternal-offspring gene interactions using linear mixed effect models: The QuantitativeMFG Test. M. M. Creek. 1745T On the null distribution of Bayes factors. Y. Guan. 1746S Mixed model with correction for case-control ascertainment increases power in multiple sclerosis association study. T. Hayeck. 1747M GARFIELD - GWAS Analysis of Regulatory or Functional Information Enrichment with LD correction. V. Iotchkova. 1748T Comparison of machine-learning methodologies to prioritize genetic variants based on functional data. S. A. Gagliano.
1758S The study of epistasis and pleiotropic effects using multi-association for metabolic syndrome in Korean population-based cohort. Y. Lee. 1759M Analysis of pleiotropy at a fine genomic scale. D. J. Balding. 1760T Development of efficient polygenic risk scores for personalized medicine: methodological concepts and examples. K. Fischer. 1761S A Proper and Efficient Approach to Integrative Analysis of Sequencing and GWAS Data for Rare Variant Associations. Y. J. Hu. 1762M Genetic Studies of Functional Quantitative Trait with both GWAS and Next-Generation Sequencing Data. D. Lee. 1763T Genotype risk score may mislead physiological interpretation of quantitative trait associations. N. Wang. 1764S Development and application of a population based statistical framework addressing the n=1 problem in human genetics. A. B. Wilfert. 1765M Meta-analysis on polygenic effects. J. H. Zhao.
1749S A mixed model methodology to correct technical artifacts and enable meta-analysis of sequence based association studies. C. Murphy. 1750M Sparse heterogenetic sequence association mapping with arbitrary population structure and cryptic relatedness. H. Qin. 1751T Estimation of prognostic marker genes by public microarray data in patients with ovarian cancer epithelial. S. Yang. 1752S Modeling Temporal Changes in Phenotypes in Pediatric Populations. R. Hoffmann. 1753M A novel meta-analysis approach for genomewide association studies with sex-specific effects. E. Kang. 1754T Mapping of novel regulatory influences on genes encoding subunits of the L-type calcium channel, using digital measurement of allelic skew. N. Kamitaki. 1755S A Candidate Pathway Approach Identifies Multiple Gene-Environment Interactions in Association with Colon Cancer Risk and Survival. N. Sharaf Eldin.
1766T Estimation of causal effects distribution from genome-wide association studies. L. Zhang. 1767S Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores. B. J. Vilhjalmsson. 1768M Mediation Analysis of Integrated Genetic and Genomic Data in the Presence of Missing Data. R. Barfield. 1769T Discovering Disease Susceptibility Genes Using Predictors of the Transcriptome - PrediXcan. H. K. Im. 1770S Statistics for genetic association in the presence of covariates - genome scanning considerations. H. Lin. 1771M Addressing Potential Bias in Heritability and Coheritability Estimates within Ancestrally Homogeneous Populations. J. Liu. 1772T A new prognostic model to predict renal outcome in autosomal dominant polycystic kidney disease (ADPKD). E. Cornec-Le Gall.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS 1773S A fast and accurate p-value imputation approach for genome-wide association study. J. Kwan.
1775T Fine-mapping of additive and dominance effect SNPs using group-LASSO and Fractional Resample Model Averaging. J. A. Sabourin. 1776S Allele Specific Expression Can Reduce Apparent Genotype/Phenotype Relations: A Simulation Study. J. L. Dannemiller. 1777M Parent of origin and recurrence risk bias: probabilistic modeling explains the broken symmetry of transmission genetics. C. Shaw. 1778T What are genome-wide association studies detecting? Our experience predicting cystic fibrosisrelated diabetes onset. D. Soave. 1779S Test of Genotypic Association Allowing for Errors. L. Zhou.
1791S Linkage disequilibrium clustering can improve power of weighted-sum-type multi-marker tests for genetic association analysis. Y. Yoo. 1792M A unified analysis approach for X-chromosome that accounts for random, skewed and escaping of X-chromosome inactivation. J. Wang. 1793T Efficient Detection of Allelic Imbalance from SNP microarrays. C. Hahn. 1794S Imputing phenotypes for genome wide association studies. F. Hormozdiari. 1795M Quality and accuracy assessment for NGS data analysis and interpretation. J. Li. 1796T A comprehensive survey of genetic variation in 20,769 subjects from the Harvard Cohorts. S. Lindstrom. 1797S Heteroscedastic Extreme Sampling Strategy in Target Sequencing Studies. W. Ouyang. 1798M Use of exome sequencing data for the analysis of population structures, inbreeding, and familial linkage. V. Pedergnana.
1780M Statistical method for analyzing allele-specific expression across individuals for multiple statuses. Y. Lee.
1799T GENESIS: a French national resource to study the missing heritability of breast cancer. N. Andrieu.
1781T A New Approach to finding Association with Complex, Longitudinal Phenotypes using Population Data. A. M. Musolf.
1800S Survival monitoring during the first year of life of infants with birth defects in a high complexity hospital of the city of Cali, Colombia, 2012-2013. F. Ruiz.
1782S Multiple testing procedures for GWAS with highdimensional phenotypes. C. B. Peterson.
1801M The simulation of the confounding effect on cryptic relatedness for environmental risks in cohort studies. K. Shibata.
1783M Making use of parental phenotypes in caseparent genetic studies. M. Shi. 1784T Efficient multiple imputation for missing phenotype using genome-wide DNA methylation data. W. Guan. 1785S Using local multiplicity to improve effect estimation from a hypothesis generating study. W. Zou. 1786M Confounded by Ancestry? Considerations for Ancestry Adjustments in Genetic Association Tests. E. R. Martin. 1787T Towards Estimation of the all-Phenotype by allPhenotype Genetic Correlation Matrix. B. Bulik-Sullivan. 1788S Effective genetic risk prediction using mixed models. D. Golan. 1789M Allele-specific DNase I hypersensitive sites exhibit H3K27ac enrichment in GM12878. J. M. Peralta. 1790T Genetic modifiers in TGF pathway affect disease severity in Duchenne Muscular Dystrophy. J. Punetha.
1802T Assessing the potential impact of low participation in DNA buccal swab collection on the validity of effect estimates. M. M. Jenkins. 1803S The Million Veteran Program (MVP): A National Resource for Genomic and Epidemiological Research. S. Muralidhar. 1804M Genotype imputation performance in multiple ethnicities via comparing with whole-genome sequencing data. H. Zhan. 1805T A Strategy for Testing Zero Variance Components with Application to QTL Association Mapping in Admixture Population. J. Zhou. 1806S Estimating base-calling error rates in nextgeneration sequencing data using overlapping read pairs. Y. Y. Lo. 1807M Overcoming Systematic Miscalibration of Linear Mixed Model Test Statistics in Genetic Association Studies by Leveraging Ancestry Representative Principal Components. M. P. Conomos.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS
1774M Generalized likelihood ratios ensure statistically and clinically significant findings: application to genetic association with cystic fibrosis lung disease. W. Li.
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148
POSTER SESSIONS
1808T Evaluation of population stratification in a large biobank linked to Electronic Health Records. M. de Andrade. 1809S Effects of Genotype Uncertainty on Statistical Analysis of Variant Association Studies. C. Palmer. 1810M Assessing the power of the Affymetrix Axiom® CEU array for studying rare and low-frequency variants in a European population sample. B. Schormair.
1825M Accurate Error Rates: Calculating Reproducibility by Minor Allele Frequency. J. Romm. 1826T Factors affecting relative telomere length measurements by quantitative PCR. C. L. Dagnall. 1827S Identifying relative pairs within large datasets. Z. Zeng.
1811T Addressing population-specific multiple testing burdens in genetic association studies. R. S. Sobota.
1828M Leveraging Family Structure for the Analysis of Rare Variants in Known Cancer Genes from WES of African American Hereditary Prostate Cancer. C. D. Cropp.
1812S Statistical tests for GWAS in small, admixed populations. L. Skotte.
1829T Detection of meiotic breakpoints in families using dense genotyping data. N. Mukhopadhyay.
1813M The Power Comparison of the Haplotype-based Collapsing Tests and the Variant-based Collapsing Tests for Detecting Rare Variants in Pedigrees. W. Guo.
1830S PIX-LRT: A parent-informed test for SNPs on the X chromosome using case-parent triads. C. R. Weinberg.
1814T Variation in estimates of kinship observed between whole-genome and exome sequence data. E. Blue.
1831M Simulation Analysis to Assess Linkage Results of Class III Malocclusion and Human Chromosome 11. L. K. AlOthman.
1815S Quality control procedures for Whole Exome Sequencing Studies with application to a large familybased study: The International Consortium of Prostate Cancer Genetics (ICPCG) Study. SK. McDonnell.
1832T Rare Variant Association Test for Nuclear Families. Z. He.
1816M Reduction of systematic bias in transcriptome data from human peripheral blood mononuclear cells for transportation and biobanking. H. Ohmomo. 1817T A Two Step Framework for Integrative Analysis of Genome Wide Methylation and Genotyping Studies. N. Zhao. 1818S Measuring population stratification in the Brazilian population: how accurate can we be? L. AlvaradoArnez. 1819M Genotyping of the UK Biobank resource, a large extensively phenotyped population collection. D. Petkova. 1820T Spurious cryptic relatedness can be induced by population substructure, population admixture and sequencing batch effects. D. Zhang. 1821S Correcting for population stratification in secondary genetic association studies using subsamples. M. C. Babron. 1822M Correction for population stratification and relatedness in case-control studies using logistic mixed models. H. Chen. 1823T Control of population stratification in family data using pedigree information and ancestry principal components. C. Wang.
1833S The collapsed haplotype pattern method for linkage analysis of next-generation sequencing data. G. T. Wang. 1834M Identifying rare variants in linkage regions through pedigree-based conditional linkage analysis. C. W. Bartlett. 1835T A general framework for group-wise transmission/disequilibrium tests for identifying rare variant associations. R. Chen. 1836S Rare Variant Association Analysis of Quantitative Traits in Pedigrees of Arbitrary Size and Structure. Y. Jiang. 1837M Dissecting the Genetic Architecture of Longevity with Millions of Individuals. J. Kaplanis. 1838T Adaptive Combination of P-values for Familybased Association Testing with Sequence Data. W. Lin. 1839S Exome sequencing in an isolated population reveals multiple rare variants affecting both highdensity lipoprotein cholesterol and the levels of certain blood metabolites. E. M. van Leeuwen. 1840M Efficiently Incorporating Annotation Information into the Analysis of Genomic Sequence Variants in Pedigree Samples. Q. Li. 1841T Efficient gene-gene interaction test for discordant sib pairs in genome-wide association studies. R. Chung.
1824S Optimal strategies for studying singletons associated with quantitative traits. S. Rashkin.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS 1842S Robust and powerful family test for rare variant association. K. Lin.
1844T TIMBER - personalized computationally-efficient filtering of GERMLINE-discovered putative IBD segments. M. Barber. 1845S Statistical Tests for Co-Segregation of Genetic Variants with Disease in Pedigrees. D. Schaid. 1846M Cross pedigree shared ancestry reveals rare, disease-causing variants in the presence of locus heterogeneity. H. J. Abel. 1847T Increasing Power to Detect Rare Variant Associations by Integrating Linkage Data: A Bayesian Approach. S. Lutz. 1848S Impact of screening for precancerous lesions on family-based genetic association tests: an example of colorectal polyps and cancer. S. L. Stenzel. 1849M TITLE: Familial aggregation of blood pressure in Ramadasia population of north-west Punjab. R. KUMAR.
1860S Study design and statistical tests for detecting gene-environment interaction on environmental exposure-defined phenotypes. C. Chen. 1861M A simulation study of gene-by-environment interactions in GWAS implies ample hidden effects. U. M. Marigorta. 1862T A novel functional data analysis approach to detecting gene by longitudinal environmental exposure interaction. P. Wei. 1863S GWAS for a longitudinal trait with non-uniform errors: Recovery of CD4 cell counts after initiation of anti-retroviral therapy in two Ugandan cohorts. J. Mefford. 1864M Detecting clusters of disease-associated SNPs. D. Swanson. 1865T Biochemical network-driven analysis of genetic control of human metabolome. Y. A. Tsepilov. 1866S Joint Analysis of Genetic Interaction and Imprinting in Family Studies. C. C. Wu. 1867M Gene-gene interactions in admixed populations. E. Ziv.
1850T Mixed Model Association Mapping on the X Chromosome. C. McHugh.
1868T Integration of multiple types of functional annotation with genotype data in genetic association studies at gene and pathway levels. Y. Guo.
1851S lincRNA-mRNA transcriptional regulatory co-expression network from RNA-seq data in 624 Sardinian individuals. P. Forabosco.
1869S Identification of shared genetic aetiology between epidemiologically linked disorders with an application to obesity and osteoarthritis. J. Asimit.
1852M Sample-specific gene co-expression networks controlling for confounding effects. C. Gao.
1870M Multilevel dimensionality reduction algorithms for high-dimensional genetics data. K. Cho.
1853T Random forest for genetic analysis: Integrating the X chromosome. G. Jenkins.
1871T Estimating genetic distance-dependent effects of environmental exposures by functional models. D. Zaykin.
1854S Integrative Metabolomics of Asthma Severity using Bayesian Networks. J. Lasky-Su. 1855M Closed-form Wald tests for genome-wide analysis of gene-gene interactions. Z. Yu.
1872S Multivariate approach for finding gene sets differentially expressed by complex phenotype. E. Drigalenko.
1856T Gene based analyses of sympathetic nervous system genes on long term blood pressure: The GenSalt study. C. Li.
1873M Estimating and interpreting pairwise genetic correlations between hundreds of quantitative traits from population samples of thousands of individuals. M. Pirinen.
1857S Rapid Variance Component Aggregation Test (RVCAT) for evaluating interaction effects of rarevariants. R. Marceau.
1874T Systemic genetics of Systemic Sclerosis through protein-protein interaction network-based analysis. J. HAMON.
1858M Studying the elusive exposome and its interaction with the genome in large-scale. C. J. Patel.
1875S Mixed-model analysis of common variation reveals pathways explaining variance in AMD risk. J. Hall.
1859T To evaluate the determinants of prehypertension and hypertension among Punjabi adolescent population using path analysis and structural equation modelling. S. K. Brar.
1876M A non-parametric approach for detecting gene-gene interactions associated with age-at-onset outcomes. M. Li.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS
1843M Family-based rare variant association methods for quantitative traits in the presence of population structure. W.-M. Chen.
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150
POSTER SESSIONS
1877T Estimation of Heritability and Association for Quantitative Traits with Repeated HbA1c Measures: Biomarker for Metformin Response. L. Wu.
1894M Rapid radiation of common Eurasian Y chromosome haplogroups occurred significantly later than the out of Africa migration. M. Järve.
1878S Genome-Wide Association and Gene-Gene Interaction Studies to Explore Etiology of Glaucoma and Ocular Hypertension. S. Verma.
1895S Ancestral Components of Admixed genomes of Chileans from Northern and Central Chile - The ChileGenomico Project Release 1. R. A. Verdugo.
1879M Major-Effect Loci for Lipids also Impact Phenotype Variability in the Old Order Amish. L. YergesArmstrong.
1896M High degree of admixture in an urban Brazilian population. M. B. Melo.
1880T An integrative imputation method for multi-omic datasets. D. Lin.
1897S Whole genome association and genetic admixture analysis of EEG phenotypes in a Native American community sample. Q. Peng.
1881S Combining allele-specific and population signal boosts power for association mapping of multiple DNA sequence-based cellular traits. N. Kumasaka.
1898M A Genome Wide Admixture Association Study of a Sleep Disturbance Phenotype in Adults with Sickle Cell Anemia. C. Liu.
1882M Combining the association and ancestry signals through a multivariate model. S. Eyheramendy.
1899S Use of Long-read-sequence Aided Phasing for Inference of Ancestry Assignment in Admixed Populations. F. L. Mendez.
1883T Explaining missing heritability using Gaussian Process Regression. K. J. Sharp. 1884S Comparison of GWAS results from imputed SNPs and multiple anchor and partner genotyped SNPs in an isolated population, Samoa. R. L. Minster. 1885M Incorporating Functional Information in Tests of Excess De Novo Load. Y. Jiang.
1900M Characterizing the Local Ancestry of Established Multiple Sclerosis Risk Loci in Hispanics. A. H. Beecham. 1901S Linear Mixed Model-Based Admixture Mapping. L. Brown. 1902M Genetic evidence of archaic admixture in India. A. Basu.
1886T Beyond random effects meta-analysis: explaining why effect sizes differ between studies. E. Eskin.
1903S Pharmacogenomic patterns for Brazilian and Mexican populations. V. Bonifaz.
1887S Association mapping from sequencing reads using k-mers. A. Rahman.
1904M The genetic ancestry of African, Latino, and European Americans across the United States. K. Bryc.
1888M Haplotype eQTLs in response to trivalent influenza vaccine. H. Xu.
1905S The Brazilian EPIGEN Initiative: admixture, history and epidemiology at high resolution. F. Kehdy.
1889T Novel gene discovery through proximity clustering of de novo mutations in rare diseases. J. McRae.
1906M Inferring patterns of demography and assortative mating in the Thousand Genomes Project admixed populations from the Americas. E. E. Kenny.
1890S Power of paternity exclusion with DNA markers and its current use: Some corrective actions. R. Chakraborty.
1907S Genotype and allele frequencies of RETN -420 C/G polymorphism in three Mexican native populations. A. López Quintero.
Evolutionary and Population Genetics
1908M Sub-continental local ancestry inference in U.S. individual. B. K. Maples.
1891S Genetic ancestry associated with obesity and diabetes risks in a Mexican-American population from Houston, Texas. H. Hu.
1909S Drift and selection contribute to elevated susceptibility for childhood acute lymphoblastic leukemia in individuals with Native American ancestry. P. Nakka.
1892M Investigating European admixture in GERA East Asians. Y. Banda. 1893S A Comparative Genomic Approach to Introgression Detection. L. Nakhleh.
1910M Relationship between Glaucoma and Admixture in Postmenopausal African American Women. R. Nassir. 1911S Inference of the demographic history of Japan using Approximate Bayesian Computation. C. D. Quinto.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS
151
1929S Using linkage disequilibrium to refine estimates of accelerating growth in human populations. M. Reppell.
1913S Analysis of autosomal and Y-chromosomal DNA Suggests West Asian Population Derivation from Northern Middle Eastern Populations in the postGlacial Period. P. Zalloua.
1930M Effect of negative selection on distribution of runs of homozygosity in outbred and consanguineous human cohorts. K. Popadin.
1914M A method to use control data and exploit the structure of genetic ancestry space to enhance casecontrol studies. C. Bodea. 1915S Population Genomics of the South American Andean Region. J. R. Homburger. 1916M Fast individual ancestry inference from DNA sequence data leveraging allele frequencies from multiple populations. O. Libiger. 1917S Molecular and cytogenetic analysis of inversions in human and Great Apes. M. Miroballo. 1918M Identification of pleiotropic association signals in multiple autoimmune diseases at 2q24. J. E. Molineros. 1919S Genomic Affinities Among Different Population Groups of Jammu Region of J&K State, India. R. K. Panjaliya.
1931S Non-visual Opsin Evolution and Implications for Human Health. A. B. Popejoy. 1932M Evolution and expression of duplicated genes in the human genome. X. Lan. 1933S Can phylogenomic analysis of Hemopexin repeat-containing proteins provide insights into the evolution of adaptive immunity? L. Likins. 1934M POTE: an example of gene family evolution. F. Anaclerio. 1935S Evolutionary Triangulation: Informing Genetic Studies with Evolutionary Evidence. M. Huang. 1936M MtDNA and health among Taiwanese. J. Loo. 1937S RUNX3 Gene polymorphisms and haplotypes in mexican patients with colorectal cancer. A. S. Suárez Villanueva.
1920M Acetylation of RNA Polymerase II Evolved in the Early History of Animals. C. Simonti.
1938M Deep sequencing of the human MHC region reveals widespread and ancient structural variation. A. Q. Fu.
1921S Structural Comparison and Natural Selection of Filaggrin Gene within Primates. V. Romero.
1939S Estimating the generation time in human evolution. P. Moorjani.
1922M Population genomics analysis in whole genome sequencing of 152 rhesus macaques. F. Yu.
1940M Role of Methylenetetrahydrofolate Reductase (MTHFR) in Risk of Opioid Abuse; Association between MTHFR and SOAPP®-R and ORT test. T. G. Onojighofia.
1923S RNA-seq analysis of endogenous retroviral elements in bovine conceptuses during the period of placentation. S. Nakagawa. 1924M How population growth affects linkage disequilibrium. A. Rogers. 1925S The Structure of Linkage Disequilibrium in the Recently Admixed Populations. H. Zhang. 1926M Statistical genetic considerations for expansion of panel of DNA markers for forensic applications: Lessons learned from the panel of 29 autosomal STR loci. M. R. Nolan. 1927S Multidrug-resistant pulmonary tuberculosis in Mexican population. Evidence of association of HLA class II and TNF-308 G/A polymorphism. B. Silva. 1928M A Renewal Theory Approach to IBD Sharing. S. Carmi.
1941S Y Chromosome STR Mutation Rates: the Factor of 3 Connundrum. D. E. Platt. 1942M Extending the Ewens Sampling Formula to structured populations: Recursive computation of exact probabilities of allele frequency spectra. M. Uyenoyama. 1943S Whole genome sequencing of twenty Mauritian cynomolgus macaques (Macaca fascicularis). M. Raveendran. 1944M Forensic Phenotyping in Brazilian population: SLC24A5 and ASIP as phenotypic predictors genes of skin, eye and hair color. C. Fridman. 1945S Interpretation of the high allele frequency of GJB2 c.109 G>A variant in Chinese population: a pathogenic mutation or coincidental polymorphism? Y. Lu.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS
1912M A Fine-Scale Comparative Analysis of Population Structure, Divergence and Admixture in in Han Chinese, Japanese and Korean Populations. S. Xu.
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POSTER SESSIONS
1946M Target sequencing analysis of Parkinson’s disease genes in a healthy Amerindian Population from Puno-Peru. M. Cornejo-Olivas. 1947S Prevalence and sources of genetic variation in human mitochondria. E. Glassberg. 1948M Maternal Age Effect and Severe Germline Bottleneck in the Inheritance of Human Mitochondrial DNA. M. Su. 1949S Cilioretinal artery: is it a variant angiogenesis under the effect of PAI-1 5G allele? I. Akalin. 1950M Tumor Necrosis Factor-alpha Gene Polymorphism in Turkish Patients with Psoriasis. H. Akar. 1951S Whole genome sequencing of a gibbon parentoffspring quartet to examine mutation rate variation in apes. D. M. Bobo.
1963S Association study confirms that two OCA2 polymorphisms are involved in normal skin pigmentation variation in East Asian populations. E. Parra. 1964M Positive Selection on Loci Associated with Drug and Alcohol Dependence. B. Sadler. 1965S Neanderthal Origin of the Haplotypes Carrying the Functional Variant Val92Met in the MC1R in Modern Humans. Q. Ding. 1966M Altitude adaptation in Tibet caused by introgression of Denisovan-like DNA. E. HuertaSanchez. 1967S Whole genome sequencing to uncover adaptation to high altitude in the Andes. M. Muzzio. 1968M IFNL3/IFNL4 region shows evidence for recent positive selection specific to Asian populations. G. L. Wojcik.
1952M Significant association of Pro129Thr polymorphism in the fatty acid amide hydrolase (FAAH) gene with body mass index in Oceanic populations. I. Naka.
1969S A genome-wide natural selection scan using 1000 high-coverage, Alzheimer’s-specific wholegenome sequences. M. Ebbert.
1953S Brazilian population data on 26 non-CODIS STR loci used for paternity and kinship analysis. V. S. Sotomaior.
1970M Identification of functional signals of recent selection in the Sea Island Gullah African Americans. C. D. Langefeld.
1954M An estimate of the average number of recessive lethal mutations carried by humans. Z. Gao.
1971S Dissecting Genetic Architectures of Human Zinc Transporter Genes and Searching Footprints of Natural Selection in Global Populations. J. Li.
1955S Testing the infinite sites assumption using the 1000 genomes dataset. S. Huang. 1956M Inference of mutation rates using hidden relatedness. P. F. Palamara. 1957S Hundreds of shared ‘deletions’ in ancient hominins are polymorphic in modern human populations. D. Radke. 1958M The evolution of genes underlying autism and schizophrenia and its impact on disease susceptibility. M-.J. Favé. 1959S Systematic detection of positive selection in the human-pathogen interactome. E. Corona.
1972M Genomic Patterns of Natural Selection on Toll-Like Receptors and N-Glycosylation Genes in Humans and Toll Genes in Drosophila: A Comparative Study on the Evolution of Innate Immunity Genes from Invertebrates to Vertebrates. S. Mukherjee. 1973S Evolutionary history of pigmentation candidate gene diversity in a Melanesian population. H. Norton. 1974M Inference of the strength of purifying selection based on haplotype patterns. D. Ortega Del Vecchyo. 1975S Highlighting strongly differentiated regions using three high coverage genomes each from a set of worldwide human populations. L. Pagani.
1960M Convergent mechanisms underlying hypoxia adaptation in Drosophila and Humans. A. R. Jha.
1976M Identification of functional variants under positive selection in the Gullah African American population of South Carolina. P. S. Ramos.
1961S Evaluating the impact of recent human demography on the frequency spectra using numerical solution of time-inhomogeneous diffusion equation. E. Koch.
1977S A model for gene expression level evolution to identify expression conservation, divergence, and diversity. R. Rohlfs.
1962M The Genetic Architecture of Skin Pigmentation in the Southern African &Khomani San. A. R. Martin.
1978M The Clade Fitness Proxy haplotype score: delineating the progression of soft selective sweeps at the haplotype level. R. Ronen.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS 1979S Searching for soft selective sweeps in worldwide human populations. Z. A. Szpiech.
1981S Identification of putative high altitude adaptation determinants in Tibetan whole genome sequences. J. Downie. 1982M Positive selection in smallpox associated genes among Mesoamericans. O. A. Garcia. 1983S Selection and reduced population size cannot explain higher amounts of Neanderthal ancestry in East Asian than European human populations. B. Kim. 1984M Identifying incomplete selective sweep using Sequential Markov Coalescent. K. Liao. 1985S Asian diversity project: a survey of population structure and local adaptations in Asian populations. X. Liu. 1986M The pleiotropic effects of EDARV370A in an admixed Uyghur population. Q. Peng. 1987S A hidden Markov framework to estimate the timing of selection for hard sweeps. J. Smith.
1998M Does genetic hypermutability contribute to the current prevalence of connexin 26 deafness? D. C. Braun. 1999S Identity by descent segments within and across worldwide populations from sequence data. S. R. Browning. 2000M The Population Genomic Landscape of Human Genetic Structure, Admixture History and Local Adaptation in Peninsular Malaysia. L. Deng. 2001S Fine-Scale Genetic Structure in the Open Population of Western France. C. Dina. 2002M Shared Identity by Descent segments within current Italian population reveals new details about recent population history. G. Fiorito. 2003S Reconstruction of ancestral human haplotypes using genetic and genealogical data. J. M. Granka. 2004M Identity by descent between humans, Denisovans, and Neandertals. S. Hochreiter. 2005S Inferring demographic history from whole genome using Approximate Bayesian Computation. F. Jay.
1988M Genome wide survey of positive selection signals in African Americans since admixture. H. Wang.
2006M Genetic Structure of North-Indian Punjabi Population Based on Autosomal Microsatellite Loci. M. Kaur.
1989S Differential purifying and positive selection across genes stratified by X chromosome inactivation status. A. Slavney.
2007S Demographic inference of human population by diffusion model with nonparametric regression. Y. Kawai.
1990M Inference of Neandertal gene expression from modern samples. E. E. Quillen.
2008M Decoding ancient Bulgarian DNA with semiconductor-based sequencing. Y. Ku.
1991S Khoisan hunter-gatherers have been the largest population throughout most of modern human demographic history. HL. Kim.
2009S Exploring Detailed Demographic Histories of Human Populations Using SNP Frequency Spectrums. X. Liu.
1992M Insights from low-coverage whole Y chromosome sequencing of 1,244 individuals. Y. Xue.
2010M Exome sequencing of 3,000 individuals reveals differences in recent demographic history between East Asian and European populations. K. E. Lohmueller.
1993S Exploring the Y-Chromosome Variation of Modern Panamanians. A. Achilli. 1994M Population specific patterns of novel haplotype groups at the PAH locus. G. Povysil. 1995S High-coverage sequencing of diverse Y chromosomes via in-solution capture. A. F. Adams.
2011S Analysis of Genetic Diversity Representation of the 1000 Genomes in Worldwide Human Populations. D. Lu. 2012M Visualizing the Geographic Distribution of Genetic Variants. J. H. Marcus.
1996M The Kalash isolate from Pakistan. Q. Ayub.
2013S A Novel Likelihood Ratio Test Framework for Sex-Biased Demography and its Application to Human and Dog Genomic Data. S. Musharoff.
1997S Identifiability and efficient inference of population size histories and locus-specific mutation rates from large-sample genomic variation data. A. Bhaskar.
2014M Inferring the effective founder size of a spatially expanding population. B. M. Peter. 2015S Finding the oasis of humanity in Neanderthal deserts. B. Vernot.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS
1980M Natural selection at the melanocortin-3 receptor gene loci. I. Yoshiuchi.
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POSTER SESSIONS
2016M Coalescent times of 63 males estimated using the complete Y-chromosomes. E. Wong.
2034M Conflations of short IBD blocks can bias inferred length of IBD. C. W. K. Chiang.
2017S Detecting and dissecting the fine-scale genetic population structure of Spain. C. Bycroft.
Cardiovascular Genetics
2018M Using constraints on FST to interpret genetic differentiation in genomic data. M. D. Edge. 2019S Population structure of Amerindian 19 populations in South America. S. Nishikawa. 2020M Distribution of CYP2C9*2 and CYP2C9*3 variants in two Native populations of Mexico. L. C. León-Moreno. 2021S Full ancient mitochondrial genomes using the Ion Proton platform: Analyzing the genetic diversity of the Neo-Eskimo. J. Tackney. 2022M Large scale whole-genome sequencing of the Icelandic population isolate. D. F. Gudbjartsson. 2023S Identifying Clusters of Rare Skeletal Genetic Disoders in Brazil - preliminary data. D. Cavalcanti. 2024M The CARTaGENE Genomics Project: How successive bottlenecks have shaped the present French Canadian founder population. H. Gauvin.
2035S A systematic analysis of genetic forms of dilated cardiomyopathy reveals numerous ubiquitously expressed and muscle-specific genes. F. W. Asselbergs. 2036M The -844 GA PAI-1 polymorphism is associated with Acute Coronary Syndrome in Mexican population. I. J. García-González. 2037S MAT2A Mutations Cause Familial Thoracic Aortic Aneurysms and Aortic Dissections. D. Guo. 2038M Associations of Endothelial System Genes with Blood Pressure Changes and Hypertension Incidence: the GenSalt Study. F. Liu. 2039S Novel NKX2.5 mutation associated with congenital heart disease in South Indian patients. S. Mattapally. 2040M A replication study for fifteen coronary artery disease susceptible loci in a Japanese population. K. Ozaki.
2025S Dominant mutation in GJB2 causes hearing loss in northeast Mexican family. F. Loeza-Becerra.
2041S Relations between PAI-1 plasma levels and adipose tissue expression of PAI-1 and hsa-miR-421 microRNA. DA. Tregouet.
2026M Clinical Implications and Frequency of Variants in Nonsyndromic Hearing Impairment Genes in a Population-Based Sample of African-Americans and European-Americans. H. Dai.
2042M Functional fine mapping of the genes involved in plasma lipid metabolism in the LD-block of NCAN/ CILP2/PBX4 region. S. Boonvisut.
2027S Human population growth and purifying selection have increased the burden of autosomal and X-linked private mutations. F. Gao.
2043S Mutations in genes NKX2.5, GATA4 and TBX5, associated to congenital heart disease with septal defect in pediatric patients from the Guadalajara Civil Hospital Fray Antonio Alcalde. R. Diaz Martinez.
2028M Whole Genome Sequence of Japanese from Tohoku Medical Megabank Prospective Cohort Study. M. Nagasaki.
2044M Standard Schnauzer dogs with dilated cardiomyopathy have a 22 bp deletion and frame shift in RBM20. D. Gilliam.
2029S Analyzing the impact of consanguinity and admixture on the Middle East Variome. E. M. Scott.
2045S Disruption of the SEMA3D gene in a patient with congenital heart defects. C. Le Caignec.
2030M Rare variant stratification in a German/Austrian sample set. E. Tilch.
2046M Long QT Syndrome - Family Studies in Ion Channel Encoding Gene. P. Nallari.
2031S Population structure in the UK: Rare variant analysis using whole genome sequencing in 3,621 samples in the UK10K cohorts project. K. Walter.
2047S Assessment of the TNF- rs1799964 (-1031T>C) polymorphism and soluble protein concentration in Acute Coronary Syndrome: association with circulating levels. E. Sandoval-Pinto.
2032M Rare variation and the genomic context of allele-specific expression. J. R. Davis. 2033S Targeted transcriptomics to compare the susceptibility of human naive and pre-immune volunteers to an infection challenge with viable Plasmodium vivax sporozoites. ML. Rojas-Pena.
2048M Whole exome sequencing identifies a NEXN mutation in a family with left ventricular noncompaction. J. M. Taylor. 2049S Association of rs4340 ACE polymorphism with acute coronary syndrome in Mexican population. A. Valdez Haro.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS
155
2065S Novel variants in VINCULIN and TROPOMYOSIN1 combinatorially predispose patients to dilated cardiomyopathy. D. C. Deacon.
2051S Exploring the role of common and rare platelet traits-associated variants in cardiovascular disease risk. N. Chami.
2066M A novel mutation in the RYR2 gene (c.527 G>T, p.R176L) identified in a 4 generation family presents with a catecholaminergic polymorphic ventricular tachycardia (CPVT) phenotype with variable penetrance. S. Lauson.
2052M GWAS-identified loci for coronary heart disease are associated with intima-media thickness and plaque presence at the carotid artery bulb. M. den Hoed. 2053S Transethnic replication of the gene-gene interaction of the prostaglandin E2 system in determining blood pressure reactivity. X. Kong. 2054M Role of common sarcomeric gene polymorphisms in genetic susceptibility to left ventricular dysfunction. B. Mittal. 2055S Identification of TMEM241 as the underlying gene in the chromosome 18q11.2 triglyceride region in Mexicans. A. Rodriguez. 2056M Contribution of genetic variation of ATP-binding cassette transporter A1 (ABCA1) to the regulation of plasma lipid/lipoprotein levels in US Non-Hispanic Whites. F. Y. Demirci. 2057S A high yield of variants with a putative role as modifiers in patients with hypertrophic cardiomyopathy. S. Bardi. 2058M Genetic dissection of a novel X-linked congenital heart syndrome. C. Preuss.
2067S Harnessing genomic data to identify drug targets for reduction of LDL cholesterol and CAD risk that do not impact upon glycaemic status. V. Tragante do O. 2068M From Identification of Differing TIE2 Mutations with Distinct Cellular Characteristics in Four Types of Venous Anomalies towards a Murine Model and a Therapeutic Pilot Study. M. Vikkula. 2069S A novel pathway involved in the susceptibility of non-alcoholic fatty liver diseases. S. Makishima. 2070M Association of the eNOS -786T > C gene polymorphism and coronary artery disease in Iranian population. S. Mehrtashfar. 2071S Novel association between genetic variation in the platelet endothelial aggregation receptor 1 (PEAR1) gene and platelet count is not modified by anti-platelet treatment with clopidogrel and aspirin. A. S. Fisch. 2072M The Association of the Vanin-1 N131S Variant with Blood Pressure is Mediated by EndoplasmicReticulum-Associated Degradation and Loss of Function. Y. J. Wang.
2059S Large-scale metabolomic profiling identifies novel biomarkers for incident coronary heart disease. A. Ganna.
2073S Cardiac enhancers in sub-threshold genetic loci reveal candidate repolarization genes. X. Wang.
2060M Genetic and Metabolic Causes of Neonatal Cardiomyopathy. C. Prada.
2074M Mini Brain Related Kinase / DYRK1B: Novel Gene for Metabolic Syndrome. M. Fathzadeh.
2061S Targeted Oligonucleotide-Selective Sequencing for Genetic Diagnostics of Pulmonary Arterial Hypertension. E. H. Seppälä.
2075S Revealing the genetic and gene expression variation in a case-control study for Acute Myocardial Infarction in a Pakistani population. N. I. Panousis.
2062M Use of a Gene Expression Score in a Primary Care Setting to Evaluate African American Patients Presenting with Symptoms Suggestive of Obstructive Coronary Artery Disease. L. Wilson.
2076M Association of Cytochrome P450 2C9 (CYP2C9) and VKORC1 polymorphisms and warfarin dosage in Iranian patients refer to Shahid Rajaie Heart Center. R. Kameli.
2063S Extended genetic diagnosis of Familial Hypercholesterolemia using next-generation sequencing. M. M. Motazacker.
2077S Regulatory Polymorphisms in DBH Affect Peripheral Gene Expression and Sympathetic Phenotypes. E. S. Barrie.
2064M Evidence for the novel variant, c.1937 C>T (p.Ser646Phe ) in the membrane binding domain of the ANK2 gene contributing to Long QT syndrome in a First Nations community of Northern British Columbia. L. T. Arbour.
2078M Obstructive heart defects associated with candidate genes, maternal obesity, and folic acid supplementation. X. Tang. 2079S Notch1 haploinsufficiency increases risk of congenital heart defects in the setting of maternal diabetes by an epigenetic mechanism. M. Basu.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS
2050M HLA-DRB1*01 allele associates with Acute Coronary Syndrome (ACS) in Finnish population. E. Vlachopoulou.
156
POSTER SESSIONS
2080M eNOS Gene polymorphism in newborn patients with persistent pulmonary hypertension. ML. LemusVarela.
2097S Identification of three novel genetic variations associated with electrocardiographic traits (QRS duration and PR interval) in East Asians. J. E. Lim.
2081S A transcriptomic study reveals KLF15 as a circadian metabolic switch in the heart. L. Zhang.
2098M Identify genetic risk factors for coronary collaterals in a genetically diverse population. Z. Liu.
2082M A Large Scale Genome Wide Association Study of Varicose Veins in the 23andMe Cohort. R. K. Bell.
2099S Meta-analysis of Variants on the Exome Chip in 120,700 Individuals of European Ancestry Identifies Multiple Rare and Common Loci for Blood Pressure. C. Liu.
2083S An extreme phenotype approach to identify genes in Caribbean Hispanics for carotid plaque, a preclinical marker of atherosclerosis. S. H. Blanton. 2084M Genetic variants in LEKR1 and GALNT10 modulate sex-difference in carotid intima-media thickness: A genome-wide interaction study. C. Dong. 2085S The Kaiser Permanente/UCSF Genetic Epidemiology Research study on Adult Health and Aging: A blood pressure genome-scan in ~100,000 Subjects. T. Hoffmann.
2100M GWAS of Serum (25(OH) Vitamin D levels in a Punjabi Sikh Diabetic Cohort. B. R. Sapkota. 2101S A smoking stratified meta-analysis of peripheral arterial disease identifies associations and interactions with SNPs near genes implicated in nicotine dependence. N. R. van Zuydam. 2102M A Comprehensive 1000 Genomes-based GWAS of Coronary Artery Disease. H.-H. Won.
2086M Single variant and burden analysis of low frequency variants for Fibrinogen, FVII, FVIII, and vWF. J. E. Huffman.
2103S Exome-wide association study of blood lipid levels and positive selection of lipids associated genes in Asian population. H. Zhang.
2087S Carotid intima-media thickness: a genome-wide association analysis among African Americans. S. M. Tajuddin.
2104M Genome-wide association analysis for chronic venous disease. D. Ellinghaus.
2088M Genetic determinants underlying hypertension in multi-ethnic populations. N. Vasudeva.
2105S Novel genetic determinants associated with blood lipid concentration changes and coronary artery disease in European adults. T. V. Varga.
2089S Contribution of Global Copy Number Variants to Down Syndrome-associated Atrioventricular Septal Defects. D. Ramachandran.
2106M Identification of a predictive/prognostic genetic signature in Chagas Cardiomyopathy: A systems biology approach. C. Chevillard.
2090M Identification of Loci associated with Bicuspid Aortic Valve (BAV). S. C. Body.
2107S Exome sequencing identifies interacting cytoskeletal genes with mutations in congenital heart disease. A. Manickaraj.
2091S Relationship Between Plasma Betaine Levels and Cardiovascular Disease: Results of a GenomeWide Association Study. J. Hartiala. 2092M Genome-wide association study identifies novel susceptibility loci for venous thromboembolism in African Americans. W. Hernandez. 2093S Nervous system-related loci determining sexdifference in blood pressure reactivity to cold stress in both Chinese and Whites. Q. Zhao. 2094M Finding low-frequency causal genetic variants for lipids by genotyping subjects with extreme HDL-c levels. W. Zhou. 2095S Identification of blood pressure related genes by population-based transcriptome analyses. C. Müller. 2096M Genetics of Plasma Lactate. P. Balakrishnan.
2108M Transcriptome-wide single-cell gene expression and genetic variation analyses of metabolic stress response in macrophages reveal functionally relevant genetic cues in atherosclerosis. S. Sauer. 2109S Identification of pathway/genes associated with Bicuspid Aortic Valve in three Caucasian Cohorts. M. Heydarpour. 2110M The multi-tissue cis-eQTL landscape in coronary artery bypass grafting patients: the STockholm Atherogenesis and Gene Expression (STAGE) study. K. Nguyen. 2111S Metabolomic profiling identifies markers of cardiac atrial septal defects. H. Wang. 2112M A Gene Network approach to Rare Variant analysis. T. G. Richardson.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS
157
2128M Common variants of LDLR and PCSK9 genes associated with the risk and severity of Coronary Artery Disease in Iranian patients. S.Hamid. Jamaldini.
2114M Sequencing of 2,000 Norwegians to evaluate genetic architecture of lipid and MI-associated variants. C. Willer.
2129S Targeted oligonucleotide-selective sequencing of 101 genes from 147 patients with dilated cardiomyopathy in Finland. J. W. Koskenvuo.
2115S Whole exome sequencing highlights the importance of the CRELD1 interactome in atrioventricular septal defect in Down syndrome. C. M. Ackerman.
2130M Association of rare variants in LDLR, HMGCR, NAT2, ABCA1, and APOA1 with plasma lipid levels; initial results from the eMERGE PGx project. I. J. Kullo.
2116M Gene-centric association tests applied to cardiovascular disease using whole genome sequencing. MAA. Almeida. 2117S Somatic Activating GNAQ Mutations are Frequent in Capillary Malformations (Port-Wine Stains). M. Amyere.
2131S TGFB3 pathogenic mutations cause MFS/ LDS phenotypes and aortic aneurysms in 3 Japanese families. H. Morisaki. 2132M Exome sequences and rare variant association for plasma lipids in over 18,900 individuals. G. M. Peloso.
2118M Molecular-genetic factors in normal and pathological angiogenesis. I. I. Dimova.
2133S Rare mutations in cardiomyopathy genes are associated with takotsubo cardiomyopathy. A. L. Siniard.
2119S Genetic Variation of Scavenger Receptor Class B Type I (SCARB1) and Plasma Lipid Traits: An Association Study in a Nigerian Population. V. Niemsiri.
2134M Screening of the PRKG1 gene in a British cohort of Thoracic Aortic Aneurysm and Dissection (TAAD) patients. Y. B. A. Wan.
2120M Identification of novel genetic mutations causing familial hypercholesterolaemia among Saudi Arabian population. F. A. Al-Allaf.
2135S Exome sequencing identifies a homozygous splice site variation in ZBTB17 in arrhythmogenic ventricular dysplasia. J. Wang.
2121S Whole Exome Sequencing of 350 LVOTO Cases Reveal Novel Candidate Genes for Congenital Cardiovascular Malformations. J. Belmont.
2136M Identification of Novel Genes and Variants Associated with Hypertrophic Cardiomyopathy in Panel Negative Patients Through Targeted Sequencing of 450 Genes and Rare Variant Association Testing. M. T. Wheeler.
2122M Low-frequency coding variation in DNAH11 is associated with Sudden Cardiac Arrest among African Americans. J. A. Brody. 2123S Whole genome sequencing and analysis of three hypoplastic left heart syndrome trios using DNA from buccal swabs collected through the National Birth Defects Prevention Study. K. J. Buckingham. 2124M Rare variant association analysis for plasma lipids in coronary artery disease susceptibility loci. H. K. Chheda. 2125S Identification of potentially pathogenic mutations in 9 candidate genes for bicuspid aortic valve using next-generation sequencing. N. Dargis. 2126M Whole Exome Sequencing Reveals Rare, Truncating Variants in Nuclear Envelope Genes are Present in a Large Subset of Cardio-Genetic Patients. G. T. Haskell. 2127S Initial analysis of exome sequence from 410 individuals with familial or simplex dilated cardiomyopathy. D. J. Hedges.
2137S Whole exome sequencing of a family trio to identify potential genetic modifiers of LMNA arrhythmia and cardiomyopathy. M. Zaragoza. 2138M Timothy syndrome type 2 associated CACNA1C mutation G402S in a teenager with normal development presenting with ventricular fibrillation. TP. Alastalo. 2139S Rare potentially pathogenic variants in the congenital arrhythmia syndrome disease genes SCN5A and KCNH2 are detected frequently but rarely associated with arrhythmia phenotypes in electronic health records. S. L. Van Driest. 2140M Identification of histone modifier genes in 22q11DS patients with conotruncal heart defects by whole-exome sequencing. T. Guo. 2141S Use of high-throughput genetic sequencing to screen for copy number variation in hypertrophic cardiomyopathy. C. Dalageorgou. 2142M Gene expression profile of bicuspid and tricuspid aortic valves with and without calcification by RNA sequencing. S. Guauque-Olarte.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS
2113S WES reporting of mutations from cardiovascular “actionable” genes in clinical practice: a key role for UMD knowledgebases. A. Pinard.
158
POSTER SESSIONS
2143S Family-control analysis based on Hamming distance successfully prioritizes exome sequence variants in familial cardiomyopathy. A. Imai. 2144M Rare and common variation in SCN10A is associated with Brugada Syndrome. E. Petropoulou. 2145S Whole genome sequencing association study of ECG conduction traits. B. P. Prins. 2146M Replication of a single nucleotide polymorphism variant in CETP gene associated with HDL level in the ClinSeq® Study. H. Sung. 2147S Assessment of the implication of rare coding variants in familial and sporadic Fibromuscular Dysplasia. N. Bouatia-Naji. 2148M High Throughput Sequencing and Bioinformatic Analysis in Familial Congenital Heart Disease. D. Corsmeier. 2149S Exome Sequencing Reveals Candidate Genes for Spontaneous Coronary Artery Dissection. J. L. Theis. 2150M Feasibility of a Targeted Ion Torrent Next Generation Sequencing platform for Identification of Mutations Associated with Inherited Cardiac Arrhythmia Syndromes. E. Burashnikov. 2151S Whole-Exome Sequencing in Multiplex Family Identifies Novel Risk Variants for Thrombotic Storm. J. M. Vance.
2159S Patterns of discordant phenotypes in familial congenital heart disease. L. A. Larsen. 2160M Titin As a Gene for Conduction Defects With and Without Cardiomyopathy. E. Smith. 2161S Cystatin C and cardiovascular disease: a Mendelian randomization study. S. W. van der Laan. 2162M Association of oxidative DNA damage with folic acid metabolizing genes in children with congenital septal defects. S. Syed. 2163S Causal role of alcohol consumption in blood levels of lipids and hemostatic factors, and risks of coronary heart disease an ischemic stroke. K. Vu. 2164M Mendelian randomisation study of alcohol and cardio-metabolic risk factors. I. Y. Millwood. 2165S Heritability and linkage study on heart rate variability in an isolated Arab population. L. Munoz. 2166M The Familiality of Extreme Lipid Values. S. Knight. 2167S Characteristics of Aortic Disease Associated with ACTA2 mutations. E. S. Regalado. 2168M Are short telomeres are cause or consequence of hypertension in spontaneously hypertensive mice? C. L. Chiu.
Therapy for Genetic Disorders 2152M Identification of rare exonic variants predisposing to early onset coronary heart disease in families from Northern Finland. E. Nevala. 2153S Retrotransposons in Nonsyndromic Conotruncal Heart Defects. D. Webber. 2154M Cardiovascular Disease in Pediatric Patients with Ciliopathies. S. Bowdin. 2155S Genotype and Phenotype Characteristics of Filipino Families with Familial Hypercholesterolemia and Novel LDL-R Gene Mutation. E. C. Cutiongco de la Paz. 2156M Implantable cardioverter defibrillator (ICD) therapy in two founder arrhythmogenic right ventricular cardiomyopathy (ARVC) populations with mutations in TMEM43 (p.S358L) and PKP-2 (p.Q378X). When genotype matters. K. Hodgkinson. 2157S Elevated risk of abnormal arterial remodeling in relatives of individuals with fibromuscular dysplasia. A. Katz. 2158M First 2 years of experience of an integrated multidisciplinary clinic for adults with aortopathies in a Canadian context. A. M. Laberge.
2169S Infusions of dexamethasone loaded erythrocytes in ataxia teleangiectasia patients. L. Chessa. 2170M Inta-nasal DDAVP administration for the prevention of massive subcutaneous hematoma in dermatan 4-O-sulfotransferase 1 (D4ST1)-deficient Ehlers-Danlos Syndrome (DDEDS). T. Kosho. 2171S Catatonia in Down syndrome; the overlooked, treatable cause of regression. J. H. Miles. 2172M To study anticancerous and antiproliferative effect of Zerumbone and Oridonin on HeLa cell lines. N. Gill. 2173S Subjects treated with Migalastat continue to demonstrate stable renal function in a Phase 3 extension study of Fabry Disease. D. G. Bichet. 2174M Development of a cell-based reporter assay suited for small-molecule drug discovery in FGF23inducible HEK293 cells stably expressing Klotho. S. Diener. 2175S Phenylbutyrate increases pyruvate dehydrogenase complex activity in cells harboring a variety of defects. R. Ferriero.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS 2176M Rapamycin and Chloroquine: the in vitro and in vivo effects of autophagy-modifying drugs show unexpected results in valosin containing protein multisystem proteinopathy. A. Nalbandian.
2191S Genotoxicity after adeno-associated virus (AAV) gene therapy is dependent upon dose, treatment age and enhancer-promoter selection. R. J. Chandler. 2192M Mutational and functional analysis of Glucose transporter 1 deficiency syndrome. S. Nakamura. 2193S Online DuchenneConnect self-report data indicates Exon 44 skippable DMD patients have prolonged wheelchair-free survival. J. W. Ulm.
2178M Case report: Efficacy of L-Citrulline supplementation in a patient with Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-like episodes (MELAS) with behavioral disturbances and failure to thrive. E. Alkhunaizi.
2194M TALEN-mediated Genome Modification Leads to Ablation of Intranuclear Foci in Neural Stem Cells Derived from Human Myotonic Dystrophy Type 1 iPS Cells. G. Xia.
2179S Combination Therapy To Enhance Antisense Mediated Exon Skipping for Duchenne Muscular Dystrophy. D. W. Wang.
2195S Choroid plexus-directed gene therapy using an -N-acetyl-glucosaminidase-IGF2 fusion protein in MPS IIIB mice. S. H. Kan.
2180M Inhibition of AKT signaling in Proteus and PROS cells: A simple model for cancer therapeutics targeting the AKT/PI3K pathway. L. G. Biesecker.
2196M Glycogen storage disease type Ia mice receiving gene therapy are protected against ageinduced obesity and insulin resistance. GY. Kim.
2181S Cycloheximide enhances skipping of mutated DMD exons synergistically with TG003. A. Nishida.
2197S Developing Treatment for Neurofibromatosis. A. Cosco.
2182M Treatment of LMNA Laminopathies with the Rapamycin Analog RAD001. A. J. DuBose.
2198M Cell Reprogramming Technologies for the Treatment of Genetic Disorders of Myelin. A. Lager.
2183S Novel Cystine Derivatives as Potential Inhibitors of Cystine Stone Formation in Cystinuria. A. Sahota.
2199S Rescue of lethal hypophosphatasia model mice by adeno-associated virus mediated muscle specific expression of bone targeted alkaline phosphatase. A. Nakamura.
2184M Towards treatment of Cantu syndrome. G. van Haaften. 2185S Early intravenous enzyme replacement therapy improves white matter myelination in canine mucopolysaccharidosis I. P. Dickson. 2186M The impact of enzyme replacement therapy on immunity in Gaucher disease. R. Limgala. 2187S An open-label, multicenter, ascending dose study of the tolerability and safety of recombinant human acid sphingomyelinase (rhASM) in patients with ASM deficiency (ASMD). M. P. Wasserstein. 2188M A proprietary human acid -glucosidase with high mannose 6-phosphate and its application in chaperone-advanced replacement therapy (CHART ™) as a potential next-generation treatment for Pompe disease. S. Xu. 2189S A Phase II Multicenter, Open-label Trial to Evaluate the Safety and Efficacy of Fabagal® (Agalsidase beta) in Patients with Fabry Disease. H. Yoo. 2190M Choroid plexus-directed viral gene therapy for alpha-mannosidosis, a prototypical lysosomal storage disease. E. Choi.
2200M Functional genomic analysis of the interplay between the retrograde transport machinery and HIV-1 replication. D. Dykxhoorn. 2201S Toward Treatments for Genetically-Based Protein Misfolding Diseases Using Antisense Technology. S. Guo. 2202M Auditory verbal therapy in pediatric patients with congenital diseases. M. Conde-Pacheco. 2203S Combination therapy with artificial dermis, growth factors, and cell culture techniques for massive hematoma-induced skin necrosis in a patient with dermatan 4-O-sulfotransferase 1 (D4ST1)-deficient Ehlers-Danlos Syndrome (DDEDS). F. Nagai. 2204M Feasibility of Exon-Skipping Therapy for Juvenile Neuronal Ceroid Lipofuscinosis. M. Velinov. 2205S Improving the communication skills of Down Syndrome patients through speech therapy. A. Umrigar. 2206M The outcome of N-carbamylglutamate (Carbaglu® ) therapy in a Korean patient with N-acetylglutamate synthase deficiency. K. Woo.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS
2177S Unfolded protein response induced by mutant alpha1-antitrypsin (AAT) activates JNK-MAPK pathway that modulates AAT levels and toxicity in AAT deficiency. N. Pastore.
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POSTER SESSIONS
2207S Modeling Autosomal Dominant Optic Atrophy in Induced Pluripotent Stem Cells (iPSCs) and Identifying the Potential Therapeutic Targets. J. Chen.
2221T Inherited GPI anchor deficiency: biochemical, molecular, and clinical presentation of a patient with PIGW mutations. T. Chiyonobu.
2208M Complete Huntingtin Haplotypes for AlleleSpecific Silencing. C. Kay.
2222M Structural modeling and bioinformatics analysis of Acid Alpha-Glucosidase in Colombian patients with p.[G576S; E689K] polymorphism associated with p.W746C mutation. J. Gonzalez Santos.
2209S iPS-cell derived basal keratinocytes and melanocytes to study severe monogenic genodermatoses in patient-specific 3D tissue systems. K. M. Eckl. 2210M A Fine Balance of Dietary Lipids Improves a Murine Model of VCP-associated Disease. K. J. Llewellyn. 2211S Development of autologous myogenic stem cell therapy for carriers of a heteroplasmic mtDNA mutation: a proof of principle study in m.3243A>G mutation carriers. F. van Tienen. 2212M Online Self-Report Data for Duchenne Muscular Dystrophy: observations of current natural history and explorations of therapeutic responses. A. Eskin. 2213S Prevention and reversal of transcriptional changes in an induced model of spinal muscular atrophy by administration of an antisense oligonucleotide promoting inclusion of SMN2 exon 7. J. F. Staropoli.
Metabolic Disorders 2214M A hemizygous GYG2 mutation in Japanese siblings showing Leigh syndrome without marked elevation of lactate and pyruvate. E. Imagawa. 2215T Role of ACBD3 protein in the mitochondrial energy metabolism. M. Tesarova. 2216M Encephalopathy and urea cycle disorder after gastric bypass in a heterozygous G209S short chain acyl-CoA dehydrogenase gene carrier. H. Wang. 2217T Persistent elevations in C3 and C5OH, heralding signs for an underlying mitochondiral defect: Neurogenic weakness with ataxia and retinitis pigmentosa (NARP). N. Hauser. 2218M Evidence of secondary mitochondrial dysfunction in patients with organic acidemias. G. M. Enns. 2219T A newborn with persistent mild elevations of succinylacetone in bloodspot, plasma and urine, with an identified homozygous variant in the GSTZ1 gene. W. Al-Hertani. 2220M Novel mutations in human lipase A gene. J. Huang.
2223T Familial hypermangenesemia among Egyptian families: further delineation of the phenotype and management. M. S. Zaki. 2224M Abnormal phospholipid metabolism due to variants in PCYT1A causes spondylometaphyseal dysplasia with cone-rod dystrophy. J. Jurgens. 2225T Mutation spectrum of six genes in Chinese phenylketonuria patients obtained through nextgeneration sequencing. Y. Gu. 2226M Functional Characterization of RYR1 Sequence Variants Associated with Malignant Hyperthermia Susceptibility Identified through Exome Sequencing. S. G. Gonsalves. 2227T Screening for Lysosomal Storage Disorders using an integrated enzymatic and molecular approach. O. Bodamer. 2228M Lysosomal acid lipase activity in dried blood spots from patients initially suspected of Gaucher disease. V. G. Pereira. 2229T Novel strategy for the diagnosis of late onset Pompe disease using next generation sequencing technologies. S. Levesque. 2230M Molecular testing of 163 patients with Morquio A syndrome (mucopolysaccharidosis IVA; MPS IVA): 39 novel GALNS gene mutations. M. Hegde. 2231T Menkes disease: the importance of precise diagnosis with molecular analysis in neonatal period. C. Kim. 2232M Mitochondrial Heteroplasmy and Clinical Variability in a MELAS Family. K. McClelland. 2233T Morquio A syndrome (mucopolysaccharidosis IVA; MPS IVA): A review of 277 gene mutations curated in a new GALNS locus-specific database. N. Miller. 2234M Expanding the toolbox for the diagnosis of mitochondrial disorders. L. Kremer. 2235T Novel mutation in BCKDHA gene in Iranian population. m. abiri. 2236M Two children with Phenylketonuria with normal tetrahydrobiopterin biochemical testing and normal Phenylalanine Hydroxylase gene testing. P. M. James.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS 2253T Insightful investigation of mtDNA integrity in affected tissues of patients with mitochondrial disorders. J. Wang.
2238M Identification of a Mutation in a Novel Gene Causing a Chédiak-Higashi Syndrome-Like Phenotype. J. C. Roney.
2254M X-chromosome inactivation in females heterozygotes for Fabry disease. L. ECHEVARRIA.
2239T Molecular Characterisation of known and novel mutations in Congenital Adrenal Hyperplasia patients (CYP21A2 gene ) : Genetic and diagnostic implications. R. Khajuria.
2255T Multiple gene variants cause a phenocopy for Lysinuric Protein Intolerance: A case report. S. Lipinski. 2256M Clinical and molecular characterization of Korean patients with glycogen storage type 1a. J. Lee.
2240M Molecular Analysis of two Indian MucolipidosisII (ML-II) patients and Identification of One Novel Mutation in GNPTAB gene. M. Mistri.
2257T Two new unrelated cases of Pyrroline-5carboxylate synthase -new founder effect? Y. Trakadis.
2241T Dup 24bp in chit1 in six mexican amerindian populations. T. D. Da Silva Jose.
2258M Phosphoglycerate kinase-1 (PGK-1) deficiency presenting as neonatal onset hemolytic anemia, rhabdomyolysis, and mild developmental delay. Y. Watanabe.
2242M Molecular and Functional Characterization of Mucopolysaccharidosis Type VI in Indian population. U. Anusha.
2259T Norrbottnian variant of Gaucher disease in southern Italy: Long term follow-up. M. Grisolia.
2243T Antioxidant enzymes gene expression in Fabry Disease along the circadian rhythm. A. C. BarrisOliveira.
2260M GM2-gangliosidosis, AB variant: clinical, ophthalmological, MRI and molecular findings. D. Renaud.
2244M Characterization of NPC1 expression on mRNA and protein levels in a cohort of Niemann-Pick type C disease type 1 (NPC1; MIM #257220) patients. M. Hrebicek.
2261T The role of inflammation in vascular disease in the MPS I canine model. M. Vera.
2245T Enzyme activity values and Pseudodeficiency Findings of arylsulfatase A and -glucosidase in a Mexican Population. A. Juárez.
2262M A Novel mutation in the Methylenetetrahydrofolate Reductase (MTHFR) gene in a Turkish child: A Case Report. M. Arslan. 2263T Hypophosphatasia: a case report. R. Ortega.
2246M Unexpected manifestations of Gaucher disease during enzyme replacement therapy. YM. Kim.
2264M Autoimmune thrombocytopenia in a patient with Hunter Syndrome: a rare association. A. Rufus.
2247T Characterization of the Beta-Galactosidase Protein Isolated from Brain of Normal Sheep and from a Unique Ovine Model of GM1-Gangliosidosis. D. A. Nevin.
2265T Bone Health in Children and Adults with Isolated Methylmalonic Acidemia. J. L. Fraser.
2248M Galactose Supplementation Improves Glycosylation in PGM1-CDG. T. E. Gadomski. 2249T Morquio Syndrome: new heterozygous mutation of the GALNS gene in two siblings from south-west Colombia. M. F. Hernandez-Amariz. 2250M Identification of genetic mutations in Malaysian patients with fructose-1,6-bisphosphatase deficiency. L. H. Ngu.
2266M Optic nerve atrophy in methylmalonic acidemia (MMA): natural history, pathological findings and experience with anti-oxidant therapy. I. Manoli. 2267T Ophthalmic manifestations of Cobalamin C disease occur independent of metabolic control and prenatal treatment. B. Brooks. 2268M Genotype-phenotype correlation in Fabry patients detected by lysosomal newborn screening. J. Navarrete.
2251T Molecular Spectrum of HFE Gene Mutations in Patients Referred for HFE Molecular Analysis: A Single Center Study. F. Ozkinay.
2269T Biochemical, Molecular and Clinical Heterogeneity in Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency. The Atlantic Canadian Experience. J. Gillis.
2252M An infant with hyperhomocysteinemia, methylmalonic aciduria, and an atypical cellular distribution of protein-bound cobalamin. M. Pupavac.
2270M GAL-1-P levels and GALT Gene mutations in infants following abnormal newborn screening for galactosemia in South Florida. S. A. Hosseini.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS
2237T Molecular characterization of homocysteine metabolism in North Indian cohort with Hyperhomocysteinemia. A. Lomash.
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2271T Implications for newborn screening by sequencing. Y. Zou. 2272M Newborn screening and the incidences of inherited metabolic and endocrine disorders in the Arab Middle East. A. M. Kinrich. 2273T Providing more education to parents about newborn screening: not harmful and probably beneficial. B. J. Wilson. 2274M Evaluation of Behavior, Executive Function, Neurotransmitter Function and Genomic Expression in PKU “Nonresponders” to Sapropterin. H. C. Andersson. 2275T Treatment of phenylketonuria with a new formula containing LNAA. D. Concolino.
2287T Genotype and Phenotype of Vietnamese patients with ornithine transcarbamylase (OTC) deficiency. K.Ngoc. Nguyen. 2288M Precise targeted gene correction of arginase-1 deficiency using single-stranded oligodeoxynucleotides with TALENs or the CRISPR/ Cas9 system. YY. Sin. 2289T Sodium phenylbutyrate decreases plasma branched-chain amino acids in patients with urea cycle disorders. L. Burrage. 2290M MEDNIK syndrome: clinical and biochemical delineation of the copper metabolism phenotype and response to zinc therapy. D. Martinelli.
2276M Optimizing treatment for neonatal hyperammonmia. P. A. Levy.
2291T Spinocerebellar Ataxias with Hypogonadism: PNPLA6 Mutations Broadens the Phenotypic Spectrum of a New Inherited Neurometabolic Disorder. C. Lourenco.
2277T Melatonin and Dopamine as Biomarkers to Optimize Treatment in Phenylketonuria: Effects of Tryptophan and Tyrosine Supplementation. S. Yano.
2292M DNA diagnostics of MIDD and MELAS syndromes in Slovakia. D. Gasperikova.
2278M Induction of immune tolerance in MPS I patients initiating enzyme replacement therapy with Aldurazyme. G. F. Cox.
2293T Screening of Adults for Cholesterol ester storage disease (CESD). M. Beal.
2279T Effects of pre-symptomatic initiation of enzyme replacement therapy for infantile-onset Pompe disease. M. Kosuga.
2294M Meta-analysis of antibody titers, safety, and treatment outcomes in MPS I patients receiving enzyme replacement therapy (ERT) with laronidase (Aldurazyme) in clinical studies. S. Fallet.
2280M Expression and purification of human recombinant -N-acetylglucosamine-6-sulphatase. S. Le.
2295T Best Policy for helping LSD patients and Families: Collaboration between Charity Foundation, MOH, and pharmaceutical companies. F. Hadipour.
2281T Clinical response to eliglustat in treatmentnaïve patients with Gaucher disease type 1: Post-hoc comparison to imiglucerase in a real-world setting. R. Mankoski.
2296M Antisense U1-snRNAs-based correction of g.9273C>T and g.9331G>A GLA deep intronic mutations which cause Fabry disease. L. Ferri.
2282M ENCORE: A randomized, controlled, openlabel non-inferiority study comparing eliglustat to imiglucerase in Gaucher disease type 1 patients stabilized on enzyme replacement therapy: 24-month results. T. A. Burrow. 2283T Assessment of Pompe Patients at Reference Center of Inborn Errors of Metabolism (CREIM). P. Feliciano. 2284M CYP2D6 phenotype-based dosing of eliglustat. S. Turpault. 2285T Hematopoietic stem cell transplantation in a very young child with Hunter Syndrome: four year follow-up. A. L. Barth. 2286M Inhibition of Hepatic Mitochondrial Metabolism during Systemic Immune Activation. P. J. McGuire.
2297T Nutrient Intake and Growth Patterns among Adult and Pediatric Subjects with Urea Cycle Disorders (UCDs) Participating in Glycerol Phenylbutyrate (GPB) Clinical Trials. D. Hook. 2298M Predictive Value of Blood Ammonia and Glutamine to Hyperammonemic Crises in Patients with Urea Cycle Disorders. B. Lee. 2299T Gene trap of NDUFS4 in mouse is a viable model of mitochondrial complex I deficiency. B. Graham. 2300M A Molecular Genetic Study of Indian Patients with Glycogen Storage Disorders reveals Six Novel Mutations. S. Shetty. 2301T Stable Isotope Breath Tests to Assess Metabolite Flux in Methylmalonic Acidemia (MMA). E. A. Harrington. 2302M Diagnosis of Lesch-Nyhan syndrome in an 8-year-old male referred by nephrology for elevated serum uric acid. L. Pugliesi.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS
Genetics/Genomics Education
2304S Effectiveness of Personalized Genetic Education Modules. A. Jenks. 2305S “Hey Doc, here is my DNA sequence, what do you think?”. M. Kriek. 2306S Teaching Genomic Medicine to Physicians - this is our responsibility as medical geneticists !!! I. Maya. 2307S Medical Student Confidence and Knowledge about Hereditary Retinoblastoma. J. Govindavari. 2308S Creation of a genetics education program for OB/GYN resident physicians. C. M. Osborne. 2309S Preparing future physicians to practice genomic medicine: Lessons from the first two years of the University of Miami Master of Science in Genomic Medicine program. W. K. Scott. 2310S Building Integrated, Individualized, Themed Genetics Electives for Resident Trainees at Johns Hopkins. T. Wang. 2311S Personal Pharmacogenetic Testing in the Medical School Curriculum: Student Knowledge and Attitudes. S. C. Sanderson. 2312S Dissecting the genetic susceptibility to sporadic molar pregnancies and mechanisms of their formation. Y. Khawajkie. 2313S Kyoto Model of developing a genetics education program in Japan. N. Akiyama.
2321S REU Site: Research Experiences for Underrepresented Minority Undergraduates in Basic Science and Genetic Research at Louisiana State University Health Sciences Center (LSUHSC). K. Foley. 2322S Gene hunting with IMG-ACT: Integrating genomics research into the undergraduate biology curriculum. K. Moitra. 2323S Development of a molecular test and human pedigree analysis on Alpha-1 Antitrypsin Deficiency. A. Olson. 2324S Using a PyMOL activity to reinforce the connection between genotype and phenotype in an undergraduate genetics laboratory. A. Ribes-Zamora. 2325S Orchid DNA-Barcoding: a guided research project for undergraduate genetics students. A. D. Simmons. 2326S Sex and Gender Differences in Health: Educational and Collaborative Outreach to Genetics Researchers, Clinicians, and Students. M. R. Tennant. 2327S Studying Ourselves: Using SNP Genotyping to Engage Undergraduates in Genetics and Research. E. E. Murray. 2328S Statewide Education Regarding Personalized Genomic Medicine, the Iowa Experience. C. A. Campbell. 2329S Molecular Genetic Studies in Indian Patients with Ectodermal Dysplasia. S. Kushmakar.
Ethical, Legal, Social and Policy Issues in Genetics
2314S Attitudes and Response to Genetic Risk Information Among Adolescents. C. Bloss.
2330M Patient Perspectives on the Use of Electronic Health Records for Research: The MI-GENES Study. R. A. Haddad.
2315S Teaching the relationship between genotype and phenotype with public data and Molecule World™ on the iPad. TM. Smith.
2331T A systematic review of individuals’ perspectives on broad consent and data sharing in the United States. N. A. Garrison.
2316S Teaching the genome generation, a laboratory intensive high school genomics and ethics course. C. Wray.
2332M Attitudes and concerns related to placing genomic information in the electronic medical record: a survey of biobank participants. A. Fiksdal.
2317S Learning a language through Genome Education: Spanish School Experience. S. C. Zapico.
2333T Research Use of STored samples (RUST)Community Perspectives from a Developing Country. S. Ramalingam.
2318S Accelerating public awareness of personal genetics. D. Waring. 2319S Celebrity disclosures and information seeking: The case of Angelina Jolie. R. Juthe. 2320S Public Perspectives on Genetic Ancestry Testing. C. D. Royal.
2334M Genes for Good: An Online Community Study of Genes, the Environment, Health and Disease. J. R. Forster. 2335T Practical Solutions for Protecting Individual Genomic Privacy. J. Fellay.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS
2303S The UDP Self Study Short Course for Genome Wide Analysis. T. C. Markello.
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2336M Data Sharing in Human Pluripotent Stem Cell Research: Developing a Principled, proportional process. R. Isasi.
2353T Unknown knowns? Challenging concepts for patient regarding whole-exome sequencing. J. M. O’Daniel.
2337T Utilizing Online Consent and Data Collection in Studying Genetic Changes Related to Autism. B. Smith-Packard.
2354M Changing Preferences About Secondary Results From Exome Sequencing: Separating Preference Setting from Informed Consent. J. Crouch.
2338M Whole genome sequencing of children: Consent, parental choice, and the hunt for secondary variants. N. Monfared.
2355T Next generation DNA sequencing and incidental findings: consultant's opinion about the impact of being informed. J. Forbes.
2339T Pediatric whole genome sequencing: the benefit-risk calculus of parents and health care providers. R. Z. Hayeems.
2356M Compare and Contrast: A cross-national study across UK, USA and Greek Experts toward Return of Incidental Findings from Clinical Sequencing. E. G. Gourna.
2340M Attitude toward genetic research on children and informed assent. Z. Yamagata. 2341T EuroGentest Guidelines for Diagnostic Next Generation Sequencing. P. Bauer. 2342M Attitudes toward direct-to-consumer genetic testing and its regulation in Japan. K. Muto. 2343T Development of the Clinical NGS Industry in a Shifting Policy Climate. M. A. Curnutte. 2344M The protection of genetic privacy in the European Union and the proposed data protection reforms. A. C. de Paor. 2345T Towards an ethics “safe harbor” for global genomic research. E. S. Dove. 2346M Analysis of ethical and social issues of large scale genome cohort/biobanking projects in Japan. J. Minari. 2347T De-implementation of newborn bloodspot screening: ethical and policy issues. S. G. Nicholls. 2348M Concerns of researchers and physicians regarding the chromosomally integrated HHV-6. V. Noël. 2349T Regulating Gamete Donation in the US: Ethical, Legal and Social Challenges. M. Sabatello. 2350M Illuminating the changing landscape from newborn screening to newborn sequencing: Ethical, psychological, and societal implications for research and policy-making in the genomics era. L. Bush. 2351T Whole genome sequencing in newborn screening? A Statement on the continued importance of targeted approaches in newborn screening programmes. B. M. Knoppers. 2352M Abundant pleiotropy complicates the return of genetic results and incidental findings. J. M. Kocarnik.
2357T Participant satisfaction with a preferencesetting tool for the return of individual research results in pediatric genomic research. I. Holm. 2358M Patients’ Perceptions of Whole Genome Sequencing Results and Plans to Use Non-Actionable Findings. L. Jamal. 2359T What do younger breast cancer patients want to learn about individual results from genome sequencing? K. A. Kaphingst. 2360M Returning incidental findings to family members of deceased research participants: Perspectives from a cancer biobank. B. A. Koenig. 2361T How Research Participants Value Result Confirmation in CLIA Compliant Laboratories. M. Y. Laurino. 2362M Ethical implications of incidental findings found by array-CGH in a routine clinical population. M. Lefebvre. 2363T Returning Participants Results from Genome Research in National Health and Nutrition Examination Surveys. J. McLean. 2364M Parental decision-making for children enrolled in exome sequencing research and attitudes toward receiving variants of uncertain significance. J. Sapp. 2365T “Bring it on!” Preference setting for secondary results from exome sequencing using My46. H. Tabor. 2366M Returning findings within longitudinal cohort studies: the 1958 Birth Cohort as an exemplar. S. Wallace. 2367T Participant preferences regarding the return of mental health related research results from a pediatric biobank and associations with social-demographic factors, comfort and concerns with novel health information. E. Weitzman.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS
165
Genetic Counseling
2369T Penetrance of Actionable Incidental Genomic Findings in Exomes from the Framingham Heart Study. N. B. Gold.
2384S Psychosocial factors associated with the uptake of contralateral prophylactic mastectomy among BRCA1/2 noncarriers with newly-diagnosed breast cancer. J. G. Hamilton.
2370M Attitudes of Genetics Professionals Toward Return of Incidental Results from Exome and Whole Genome Sequencing. J. Yu.
2385S The Effect of Disclosing Coronary Heart Disease Genetic Risk on Shared-Decision Making. T. M. Kruisselbrink.
2371T Participant Experiences Receiving Incidental Findings Through Genome Sequencing. K. L. Lewis.
2386S Adopting Genomes - Motivations of Adopted Persons when seeking Personal Genomic Services. N. M. Baptista.
2372M Does prior comfort with new health information influence parents’ preferences for receiving genetic research results about their children? N. Huntington. 2373T Navigating Contested Ideas about DNA Ancestry Testing in American Indian and Freedman Populations in Oklahoma. J. W. Blanchard. 2374M Direct-to-Consumer Ancestry Testing: Psychological and Behavioral Impacts. D. L. Boeldt. 2375T Motivations for Participation in Genomic Research in Hispanics vs. Non-Hispanics. M. L. Cuccaro. 2376M Reasons for declining preconception carrier testing using genome sequencing: Implications for research and practice. M. Gilmore.
2387S Expert knowledge shapes decision-making for couples receiving uncertain prenatal chromosomal microarray testing results. M. A. Rubel. 2388S A genomic decision aid linked to the electronic health record to disclose coronary heart disease risk and enable shared decision-making. K. Shameer. 2389S The predictive power of breast cancer family history in the clinic. H. C. Cox. 2390S Colorectal cancer screening for people with a family history: should recommendations vary by age? I. Lansdorp-Vogelaar. 2391S Improving pedigree capture: Development and validation of an interview-optimized iPad app to eliminate the need for paper. J. M. Miller.
2377T Personal Genomics Online in Australia: A mixed methods study of Australian consumers’ knowledge, attitudes and experiences of direct-to-consumer personal genome testing. J. Savard.
2392S Non-specific psychological distress in women undergoing noninvasive prenatal testing because of advanced maternal age. N. Suzumori.
2378M A novel scale to assess perceptions of uncertainty in genome sequencing information. B. Biesecker.
2393S Diagnostic challenges and behavior problems in Rwandan patients with disorders of sex development: ethical issues in african context. L. Mutesa.
2379T The influence of false positive results from newborn screening for cystic fibrosis on cascade testing and family planning. Y. Bombard.
2394S Making sense of diagnostic uncertainty after newborn screening for cystic fibrosis. C. J. Barg.
2380M Personalized medicine in the context of prenatal diagnosis and medically assisted procreation. G. Lapointe. 2381T ACE, ACTN3 and ADRB3 polymorphisms in elite soccer players according to the team position. L. Ruzic. 2382M Influence of the social environment on the development of breast cancer through epigenetic modifications: A comprehensive scoping review. O. Martin. 2383T Genetic Ancestry Testing and Identity: Exploring the Relationship. C. M. Wolpert.
2395S Reconciling the downsides of screening: Mothers’ experiences with false positive CF NBS results. F. A. Miller. 2396S Numeracy, Genetic Knowledge, and Perceived Risk for Coronary Heart Disease in the MI-GENES Study. H. Jouni. 2397S Genomic Sequencing in the Infant Population: Exploring Parental Motivations, Expectations and Utilization of Sequencing Results in the Tell Me More Study. F. Facio. 2398S Supporting the International Rare Diseases Research Consortium: achievements and challenges. P. Lasko.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS
2368M Uptake and motivations to learn incidental genome sequencing results among cancer patients. E. Glogowski.
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POSTER SESSIONS
2399S Assessment of factors that should be addressed in prenatal counseling for non-invasive prenatal test. L. Wang. 2400S Genetic Counselling for Psychiatric Disorders: Exploring the Psychiatric Health Professionals’ Perspective in the United Kingdom. S. E. Jenkins. 2401S Autism Spectrum Disorder in Taiwan: Parents’ report. J. Ye. 2402S Carrier screening of recessive disorders in vitro fertilization couples and gamete donors and recipients by targeted next generation sequencing. A. Abulí.
Health Services Research 2403S Inherited cancer predisposition in children: challenging issues faced by a genetic clinic in a pediatric oncology hospital. F. T. de Lima. 2404S Implementing a universal public health policy for the care of rare diseases in Brazil. D.DG. Horovitz.
2415S Genetic Test Recipient as a Source of Data: A Novel Approach to Obtaining Genotypic and Phenotypic Data for Input into Genomic Databases. B. E. Kirkpatrick. 2416S A comparison of anthropometric status, blood pressure and oxygen saturation in athletic and nonathletic females. H. Kaur. 2417S The NINDS Repository: A Public Collection of Biomaterials for Disease Modeling, Gene and Biomarkers Discovery in Neurological Research. C. Tarn. 2418S Patients and caregivers as sources of innovative ideas and solutions: A multiple case study approach. V. Francisco. 2419S Diffusion as a validation process: Learning from patient innovators. S. A. Oliveira.
Clinical Genetic Testing
2405S Effect of Co-Payment on Behavioral Response to Consumer Genetic Testing. J. Outlaw.
2420S Multiplex panel testing improves the yield of mutation detection in cancer genetics clinics. J. O. Culver.
2406S Costs and burden of pediatric hospital admissions with a single gene or chromosomal diagnosis, United States, 2009. R. Fisk Green.
2421M Cost-effective NGS based BRCA - TP53 screening panel for hereditary breast cancer in India. M. Sen.
2407S Utilizing telemedicine to support informed decision making and expand access to cancer genetic services in community clinics. A. R. Bradbury.
2422T A Two-Step Clustering Methodology for Grouping Clinical Genetic Testing Panels. G. Hooker.
2408S Cree Leukoencephalopathy and Cree Encephalitis Carrier Screening Program: Evaluation of Knowledge and Satisfaction of High School Students. J. Le Clerc-Blain. 2409S Determinants of the value of genetic testing in clinical decision-making. B. Lerner. 2410S Lean - production management rules applied to a genomics core facility. J. Altmüller. 2411S Newborn screening for cystic fibrosis: role of primary care providers in caring for screen positive children. J. C. Carroll. 2412S An assessment of clinician and researcher needs for support in the era of genomic medicine. C. A. Brownstein. 2413S Physician Response to EMR-Based Genetic and Non-Genetic Risk Results for Actionable Complex Disease and Pharmacogenomics in a Randomized Controlled Trial of Genomic Counseling. K. Sweet. 2414S A rapid evidence review for the inclusion of genetic data in clinical care for a common, complex disease. J. Malinowski.
2423S Recurrent hydrocephalus by POMT2 mutation unraveled by exome sequencing of DNA from preserved Umbilicus. K. Kosaki. 2424M Targeted Single-Molecule OligonucleotideSelective Sequencing for Genetic Diagnostics. S. Bruce. 2425T Implementing next generation sequencing in clinical practice of children’s hospital. Y. Enomoto. 2426S Active organic solvent-free paraffin removal is the key to efficient extraction of NGS-quality DNA from FFPE tissues. H. Khoja. 2427M CONNECT1: Next-Generation Sequencing Chip for Dominant Connective Tissue Disorders. J. Milunsky. 2428T Xeroderma Pigmentosum (XP): Single nucleotide variants (SNV) that probably affect function in two Indian families identified using next generation sequencing (NGS) of 8 XP genes. K. Reddy. 2429S Steroid resistant nephrotic syndrome (SRNS): NGS panel testing to direct therapy and intervention. L. J. Yarram-Smith. 2430M Validation of a Robust PCR-only Assay for Quantifying Fragile X CGG Repeats. K. W. Choy.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS 2431T Bridging the gap between sequencing gene panels and whole exomes for clinical diagnosis. S. Abbs.
2433M Contextualization and recommendation: How doctors and patients discuss whole-genome sequencing results. J. L. Vassy. 2434T Towards highly sensitive diagnostic exome sequencing without the need for confirmations by Sanger sequencing. K. L. I. van Gassen.
2447S Diagnostic sequencing in integrated clinical and research laboratory setting for 100 families at the Dorrance Center for Rare Childhood Disorders. S. Szelinger. 2448M An intronic deleted mutation in the COL3A1 gene affecting exon skipping causing vascular EhlresDanlos syndrome. A. Watanabe. 2449T The Relationship between Blood Index and Thalassemia Disease. N. Ghazavi. 2450S Investigation of Genomic Deletions and Duplications by Custom MLPA in a Cohort of 338 Patients with Obesity, Developmental Delay, Hyperphagia, and Additional Features. C. S. D’Angelo.
2435S Biological assays to predict the functional impact of missense mutations: the case of the tumor suppressor gene BRCA1. G. A. Millot.
2451M Prenatal detection of chromosomal aberrations and its reflection at adult age. B. B. Ganguly.
2436M Complete APTX deletion in a patient with ataxia with oculomotor apraxia type 1. R. van Minkelen.
2452T 45,X (30%); 46,X,i(Xq) (60%) mosaicism. Case report. M. Pérez Sánchez.
2437T Next generation sequencing of the HEXA and HEXB genes in African Americans with positive enzymatic carrier screening result for Tay-Sachs disease. J. Zhang.
2453S Comparison of whole genome amplification (WGA) methods for detection of genomic aberrations using low coverage massive parallel sequencing. D. Deforce.
2438S Enhanced detection of large indels in diagnostic exome sequencing. D. Shinde.
2454M Supporting the free exchange of clinical laboratory variant data through VariantWire. S. Baxter.
2439M Efficient diagnostic routing using whole exome sequencing. M. Weiss.
2455T Developing Exclusion Datasets for Genome Filtering in the MedSeq Project. K. Machini.
2440T Performance of in silico sequence conservation tools in predicting the pathogenicity of missense variants in HBOC and Lynch syndrome-associated genes. I. D. Kerr.
2456S Diagnostic Exome Sequencing provides diagnoses among patients with abnormal brain MRI findings. K. D. Farwell Gonzalez.
2441S Detection of Pathogenic Mutations in Moderate Penetrance Breast Cancer Genes Significantly Increases the Number of Patients Identified as Candidates for Increased Screening. E. Rosenthal. 2442M Update on evaluation of ACMG Recommended Incidental Findings in Clinical Whole Exome Sequencing. P. Vitazka. 2443T Targeted gene panel sequencing using multiparallel single-plex PCR amplification for the detection of somatic mutations. K. Yap. 2444S Clinical and technical evaluation of NGS based testing for hereditary cancer syndromes. S. Lincoln. 2445M Beyond BRCA1 and BRCA2: results from screening 94 genes in 200 patients with familial breast and ovarian cancer using panel sequencing and custom array-CGH. A. Rump.
2457M Identification of a Novel De Novo Mutation Associated with PRKAG2 Cardiac Syndrome and Early Onset of Heart Failure. M. Jurkowska. 2458T Targeted massively parallel sequencing in molecular diagnosis: a Brazilian report. M. Lazar. 2459S Prevalence of medically actionable findings: a summary of clinical Whole Exome Sequencing cases. Z. Niu. 2460M Identification of Complex Rearrangements of the MECP2 Gene Requires a Combination of Molecular Diagnostic Techniques. S. Ordorica. 2461T Pathogenic mutations in genes responsible for Maple Syrup Urine Disease type 1A (BCKDHA), type 1B (BCKDHB), and type 3 (DLD) determined in a large pan-ethnic cohort. C. Perreault-Micale. 2462S Molecular Genetic Determination of Maple syrup urine disease cases from southwest Iran. A. Sedaghat.
2446T Reporting Candidate Genes: Identifying a Potential Genotype-Phenotype Correlation via Whole Exome Sequencing. J. Neidich.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS
2432S Implementing an Augmented Clinical Exome and Reference Improvements to Enhance Diagnostic Yield and Discovery. R. Chen.
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POSTER SESSIONS
2463M A homozygous frameshift insertion in the MRPS34 gene identified in a family with two affected boys Suffering from progressive retinal dystrophy. G. Shariati. 2464T Beyond Bias: Broadening the phenotype of genetic disorders using very large gene panels. C. Stanley. 2465S Development of a Hereditary Spastic Paraplegia gene panel using exome sequencing. D. J. Stavropoulos.
2479T Identification of 290-bp deletion as a first report on the beta- globin gene in South of Iran. M. Hamid. 2480S PCR-based method for complete HLA gene sequencing and capture-based method for entire HLA region sequencing. K. Hosomichi. 2481M Identifying disease causing variants ranging from SNVs, small InDels, single exon to whole gene deletions in the RB1 gene through a single NGS-based test. D. L. Abramovitz.
2466M Exome-based Neurological Region of Interest Assay for Identifying Pathogenic Sequence Variants. J. Thompson.
2482T Diagnoses by Clinical Exome Testing Suggest Wider than Expected Phenotypic Spectra on New Disease Genes: Implications for Choosing Testing Strategy and Interpretation of Results. F. Xia.
2467T RYR1 [Arg2454His] gene mutation identified in a family associated with malignant hyperthermia - an undergraduate research project. J. Li.
2483S Comprehensive Evaluation of Congenital Immunodeficiency by Next Generation Sequencing. E. B. Gorman.
2468S An exome sequencing strategy to diagnose lethal autosomal recessive disorders. S. Ellard.
2484M Utility of Expanded Gene Panels in Clinical Diagnostics: A Tale of a Laboratory’s Experience with Two Autism Testing Panels. R. T. Hagelstrom.
2469M Molecular diagnosis of congenital hyperinsulinism improves medical management and long-term outcome. G. Alkorta-Aranburu. 2470T Carrier Screening in the Sephardic/Mizrachi Jewish Population for Genetic Disorders with Known Founder Mutations. X. Cai. 2471S Clinical whole exome sequencing in a group of pediatric heterogeneous disorders: Yield and new gene discoveries. J. Gauthier. 2472M Towards the development of a standardized analytical pipeline for clinical whole genome analysis for rare disease diagnosis. R. K. Iyer. 2473T Population diversity and the genetics of hypertrophic cardiomyopathy. A. K. Manrai. 2474S Prevalence of variants of unknown significance in a next-generation sequencing panel: an experience with autism spectrum, intellectual disability, and dysmorphic features disorders. M. Nelson. 2475M Comprehensive Analyses of Causative Variants in Hereditary Nephrotic Syndrome (NS) in Children: Frequency, Clinical Utility and Phenotype- Genotype Correlation. F. E. Orkunoglu-Suer. 2476T Targeted Gene Panel for Diagnosis of Nephrotic Syndrome in Pediatric Patients. J. Rousseau. 2477S A novel EDA splice site mutation cause hypohidrotic ectodermal dysplasia in a heterozygous female with severe phenotype. C. Weng. 2478M Follow-up of the first 250 clinical WES cases: periodic re-analyses revealed additional molecular diagnoses. Y. Yang.
2485T Important Factors in Designing Accurate and Reliable Next-generation Sequencing (NGS) Assays. P. Mueller. 2486S Proband whole-exome sequencing as a costeffective diagnostic strategy for suspected Mendelian disorders. J. Thevenon. 2487M Whole exome sequencing in patients with intellectual disability. M. Mila. 2488T Does increase in genomic microarray resolution result in increased diagnostic yield? S. Costa. 2489S Investigation by array comparative genomic hybridization (aCGH) in patients with syndromic retinal dystrophies: Preliminary results. L. R. J. da Silva. 2490M Retrospective comparison of SNP microarray and cytogenetics analyses of products of conception. J. B. Schleede. 2491T Limb-girdle muscular dystrophy 1G: how frequent are mutations in this gene? V. Nigro. 2492S An alternative method for the analysis of deletions/duplications with MLPA©using the QIAxcel© Advanced System. S. B. Fischer. 2493M The SickKids Genome Clinic: a model for paediatric diagnostic and predictive genomic medicine. M. S. Meyn. 2494T Progress of Noninvasive Prenatal Testing (NIPT) of Mendelian disorders. F. Chen. 2495S Increased yield and detection of confined placental mosaicism by chromosome microarray testing of chorionic villus samples. J. Reiner.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS 2496M Sample Identification SNP Panel for Exome, Transcriptome and Whole Genome Sequencing. K. Duvefelt.
2498S Miami Otogenetic Program: Implementing genomic medicine in care of patients with impaired hearing. XZ. Liu. 2499M Whole-Exome Sequencing to decipher the genetic heterogeneity of hearing loss in a Chinese family with deaf by deaf mating. J. Qing. 2500T Comprehensive Characterization of AML Clinical Samples Using MyAML™: A Novel AML Targeted Sequencing Strategy. A. R. Carson. 2501S Mutations in the PNPLA8 gene encoding the mitochondrial calcium-independent phospholipase A2 in a patient with lactic acidosis, spasticity, abnormal gait, dystonia and complex partial seizures. I. Thiffault. 2502M Development of a Next Generation Sequencing Panel for Clinical Diagnosis and Prognostication in Hematologic Neoplasm Patients. M. Middha. 2503T Detection of copy number variations in breast cancer samples using single-nucleotide polymorphism-targeted massively multiplexed PCR. R. K. Swenerton.
2511M Next generation sequencing panel for study of genes associated with Epilepsy using a novel single step enrichment and library preparation technology. Y. Shevchenko. 2512T PACTS: Development, validation and implementation of a low cost, high-throughput combination carrier screen/PGx using targeted nanofluidic PCR and massively parallel sequencing. J. Buis. 2513S Next-Generation Sequencing of the “Clinome” in a hypotensive newborn identifies novel mutations in ACE of the renin-angiotensinogen system. H. Daoud. 2514M MASTR Technology based targeted gene panels for comprehensive diagnostic MPS based analysis of inherited and acquired mutations. J. Del Favero. 2515T Next-generation sequencing as a genetic diagnostic tool to improve the detection of tuberous sclerosis complex (TSC) causative variants. H. Li. 2516S Comparative study for the evaluation of a new technology for cystic fibrosis screening. M. Majolini. 2517M Clinical application of an anion exchange HPLC column that distinguishes DNA methylation status. K. Miyake. 2518T Development and verification of a Noonan genes Ion AmpliSeq™ panel. M. Nelen.
2504S Automated miRNA expression profiling in FFPE tissue using nuclease protection coupled with next generation sequencing. D. Thompson.
2519S Combined Approach of Targeted Exome Sequencing and Sanger Sequencing to Detect Pathogenic Mutations in Autosomal Dominant Polycystic Kidney Disease. H. Park.
2505M Non-invasive cell-free tumor DNA-based detection of breast cancer-related copy number variations. B. G. Zimmermann.
2520M Development of panel for simultaneous screening of 98 mutations related with hearing loss. M. C. C. M. Svidnicki.
2506T High sensitivity coupled with low false positives through use of a position and sequence specific errormodel in in NGS based somatic DNA sequence variant calling in a targeted cancer panel. D. Brinza.
2521T Genetic testing of targeted genes using next generation sequencing on PCR amplicons. W. Yang.
2507S Detection, estimation and correction of technical effects in copy number estimation using NGS in a targeted cancer panel. Y. Zhan.
2522S Classification of Incidental Finding Variants in 6503 Participant’s Exomes. L. Amendola. 2523M Detection, characterization, and validation of Hematological Malignancies with Archer(TM) FusionPlex(TM) Heme NGS assay. B. Culver.
2508M MLPAseq: Assaying genomic copy number variation using multiplex ligation-dependent probe amplification paired with high-throughput sequencing. D. J. Kvitek.
2524T Enabling Genomic Clinical Variant Assessment and Reduction of Variants of Unknown Significance through Intelligent Scoring. C. L. Mead.
2509T Identification of five G6PD common deficiency variants using a novel SNaPshot method in patients of the province of Chiriqui, Panama. O. I. Batista.
2525S Sensitive and Comprehensive Method to Detect Mutations in RB1 Gene Improves Care for Retinoblastoma Patients and Their Families. W. Li.
2510S Application of Serum miRNA Signature for Minimization of Immunosuppression and Diagnosis of Rejection Following Liver Transplantation. B. J. Keating.
2526M A multi-platform amplicon sequencing method for fast and reliable variant detection. M. Toloue.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS
2497T Detecting copy number variations on the X chromosome in Chinese children with intellectual disability. H. Xie.
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POSTER SESSIONS
2527T A Comprehensive Profile of Hereditary Myopathies by Next Generation Sequencing on 43 Early-Onset Patients and Subsequent Development of a Biomarker Assay by Liquid Chromatography-SRMMass Spectrometry. S. Hahn. 2528S Genetic Diagnosis of Duchenne Muscular Dystrophy by Clinical Exome, Whole Genome and Transcriptome Sequencing. R. T. Wang. 2529M Hi-Plex: a flexible, streamlined and costeffective approach to targeted massively parallel sequencing. T. Nguyen-Dumont. 2530T GenoDENT: A targeted next-generation sequencing assay for the diagnosis and discovery of mutations in buccodental disorders. M. Prasad. 2531S A new approach to target capture for genetic testing: a novel DNA enrichment method for nextgeneration sequencing applied to clinically-relevant genes. C. Richard. 2532M Nijmegen breakage syndrome detected by newborn screening for T cell receptor excision circles (TRECs). A. N. Adhikari. 2533T Establishing distinctive criteria for reporting genomic sequencing results in healthy versus ill newborns: The BabySeq Project. O. Ceyhan-Birsoy. 2534S Detection of Low Level Mixed Chimerism Using High Throughput SNP Genotyping. A. A. Nakorchevsky. 2535M Silver-Russell syndrome and segmental UPD(7q) detected by array CGH. P. Tavares. 2536T Ciliome resequencing: a lifeline for molecular diagnosis in leber congenital amaurosis. S. HANEIN. 2537S Somatic mosaicism for a novel PDHA1 mutation in a male with severe pyruvate dehydrogenase complex deficiency: a case report and literature review. S. Zhang.
2543S Universal Lynch syndrome screening in an integrated health care system: Assessment of patient perspectives on benefits and barriers. J. E. Hunter. 2544M Diagnostic Exome Sequencing as the Foundation of Building Pharmacogenomics Based Therapeutic Models for the Treatment of Ion Channel Epilepsy. S. K. Gandomi. 2545T Next-generation sequencing diagnostics for inherited arrhythmogenic cardiac disorders. C. Marschall. 2546S Genetic testing leads clinical care in neonatal diabetes: a new paradigm. E. De Franco. 2547M Identification and characterization of CFTR deletion and duplication mutations among nonwhite patients with cystic fibrosis. I. Schrijver. 2548T Predicted management implications of CytoScan Dx® Assay in a consecutive cohort of patients suspected of Developmental Delay, Intellectual Disability, and/or Congenital Anomalies. A. Chaubey. 2549S Comprehensive evaluation of the FBN1, LTBP2 and ADAMTSL4 genes in 667 patients with ectopia lentis. B. Callewaert. 2550M Barriers to Cytogenetic Testing in Adults with Congenital Heart Disease. J. Vengoechea Barrios. 2551T Optimized workflow for single cell copy number profiling using high resolution oligo CGH arrays. S. Basehore. 2552S Performance comparison between low coverage semiconductor sequencing and array comparative genomic hybridization to analyze copy number variation. B. Min. 2553M Effects of clinician guided genomic risk assessments: HelloGene. H. Jin.
2538M Performance evaluation of inherited disease panels for Korean patients with Limb-girdle muscular dystrophies (LGMD). H. Kim.
2554T Rare finding of non-transient congenital extra and intra-medullary acute myeloid leukemia with Beckwith-Wiedemann syndrome. G. A. Jervis.
2539T Expanding the phenotype of genes encoding the components of the PI3K pathway. M. A. Walkiewicz.
2555S Screening Results From 79424 Patients Tested by CFnxt, a 147 Mutation Cystic Fibrosis Screening Assay Built on the Illumina BeadXpress® Platform. C. Holland.
2540S Clinical advantages of high coverage comprehensive NGS panels in the molecular diagnosis of hereditary cancer mutations. H. Dai. 2541M Mutations in STK11 identified exclusively in individuals with clinical histories suggestive of PeutzJeghers syndrome. J. S. Dolinsky. 2542T Risks associated with utilizing molecular data to guide tumor surveillance in BWS. C. Shuman.
2556M A novel StripAssay identifies genetic variants modifying beta-thalassemia disease severity. C. Oberkanins. 2557T A multidisciplinary approach to the evaluation and care of patients with inherited lung disease. B. Raby.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS 2558S Identification of truncating mutations in the CHD8 gene in patients with autism spectrum disorders by clinical whole exome sequencing (WES). J. Zhang.
2560T Mutation analysis of CYP21A2 and correlation between genotype - phenotype in 163 Vietnamese patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. V. Dung. 2561S Preventive effects of -tocopherol on telomere shortening in human buccal cells. S. Yabuta. 2562M Expanded Screening for Pathogenic Mutations in the Ashkenazi Jewish Population. B. Baskovich. 2563T Clinical exome sequencing: Initial experience in a pediatric and biochemical genetics clinic. J. A. Bernat. 2564S Implications of Massively Parallel Sequencing in screening for Autosomal Recessive conditions: the risk of being a “genetic wallflower”. L. Burnett. 2565M Analyses of TSC genes among Brazilian tuberous sclerosis complex (TSC) patients. L. G. Dufner-Almeida. 2566T The Implementing Genomics in Practice (IGNITE) Network: A Coordinated Effort to Study and Improve Implementation of Genomics in Clinical Practice. S. E. Kimmel. 2567S Clinical exome sequencing identifies a novel gene, LINS, associated with intellectual disability, failure to thrive, seizures, dysmorphology, and language regression. I. Lu. 2568M Genetics of beta thalassemia in Iran: Still requires consideration? N. Mahdieh. 2569T Diagnostic Yield of Genetic Testing in the Children’s Hospital of Colorado Autism Genetics Specialty Clinic. N. J. L. Meeks. 2570S Whole exome sequencing as a diagnostic tool for complex neurological disorders. G. R. Monroe. 2571M Genetic investigation of cystic fibrosis transmembrane regulator mutations in a cohort of consecutive patients candidate for assisted reproductive techniques. F. Papa. 2572T Next-generation sequencing for the diagnosis of autism spectrum disorders using genomic capture targeting multiple candidate genes. L. RodriguezRevenga. 2573S Prevalence of ACMG Incidental Findings in The Cancer Genome Atlas Germline Samples. S. Sanga.
2574M Fabry disease diagnosed through family screening. G. Sarca. 2575T Translating allelic heterogeneity of GJB2 gene to clinical practice in Romanian population with congenital isolated hearing-loss. E. Severin. 2576S Where’s the Benefit? Views on Genetic Testing for ASD. K. B. Shutske. 2577M Pediatric neurodevelopmental disabilities refractory to traditional diagnosis: Diagnostic rate, cost and change-in-care of whole genome versus exome sequencing. S. F. Kingsmore. 2578T Whole exome sequencing identified a RP2 mutation in a large Turkish family. E. Koparir. 2579S Whole exome sequencing as a tool to enhance patient care: Experience in a midsize academic clinical genetic setting. A. Pandya. 2580M Diagnostic exome sequencing establishes molecular diagnoses among patients with gastrointestinal disease. L. Shahmirzadi. 2581T Assessment of a next generation sequencing panel to detect mutations in 40 genes causing renal tubulopathies. E. Ashton. 2582S Effective diagnosis of genetic disease by computational phenotype analysis of the diseaseassociated genome. T. Zemojtel. 2583M Genomic diagnosis in children with developmental delay/intellectual disability. K. Bowling. 2584T Autosomal Dominant Hypertrophic Cardiomyopathy (HCM) is an important modifier of the cardiomyopathy of Fabry Disease (FD): Implications for -Galactosidase A replacement therapy. D. Doheny. 2585S Characterization of Malaysian children with Beckwith-Wiedemann syndrome and Silver-Russell syndrome using methylation specific - multiplex ligation-dependent probe amplification. M. Thong. 2586M An age-based categorical framework to guide informed decision-making about next generation sequencing results in newborn screening. L. V. Milko. 2587T Targeted resequencing in intellectual disability and epilepsy in routine diagnosis, preliminary results. D. Lederer. 2588S Should the ACMG expand the required reportable disorders or findings on Exome Sequencing? Reporting a recent experience. R. M. Zambrano. 2589M Exploration of the benefit of risk-stratified colorectal cancer screening based on common genetic variants - current status and future potential. S. K. Naber.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS
2559M Use of a Patient-Centered Conceptual Framework to inform the development of the ClinGen Resource. M. S. Williams.
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2590T HCV infection and interferon-based treatment induce p53 gene transcription in chronic hepatitis C patients. J. Nowak.
2605T Genetic basis of aging, telomeres and telomerase. Four pediatric patients with premature aging or cockayne’s syndrome. M. Barrientos- Perez.
2591S Assisted reproductive treatment is not a risk factor for chromosomal abnormalities in spontaneous abortion. S. Shim.
2606S Copy Number Variation in Oculoauriculovertebral Spectrum. M. Colovati.
2592M A workflow based information system infrastructure to support translational science: The NIH Undiagnosed Diseases Program experience. A. E. Links.
2607M A rare combination: mosaic Turner syndrome by isochromosome Xq with 17p13.3p13.2 microduplication and congenital cataract with autosomal dominant inheritance and incomplete penetrance in the same individual. J. A. Rojas Martínez.
2593T Assessment of the variant annotation interpretive gap among major variant databases. M. Lee.
2608T Polycystic kidney disease and multiple malformations in a patient with tetrasomy 2q13q21.1. L. Dupuis.
2594S Clinical whole exome sequencing (WES) production update at Baylor Whole Genome Laboratory (WGL): Improved procedures for faster TAT and better disease gene coverage. Y. Ding.
2609S Neurodevelopmental Profile and Cognitive Variability in Two Females with the Rare 48, XXXX Chromosomal Disorder. D. C. Gibbs.
2595M Clinical actionability of incidental findings: application of a semiquantitative metric to assess actionability of over 1200 genes. A. K. M. Foreman. 2596T Project of Iwate Tohoku Medical Megabank Organization toward preemptive medicine. A. Shimizu. 2597S The ClinGen framework for defining the clinical validity of monogenic disease associations for use in research and clinical analyses. J. S. Berg. 2598M PCRstable: Chemical stabilization technology for ambient genetic testing. G. Dodson. 2599T Public perceptions of disease actionability and severity and their potential utility for making decisions about Genomic Testing Results. P. S. Sinicrope.
Clinical Genetics and Dysmorphology 2600S Conductive, Sensorineural, and Mixed Hearing Loss in Patients with Down Syndrome. A. Musso. 2601M Human communication disorders in patients with down syndrome. A. Romero-Diaz. 2602T Corpus Collosum Agenesis and Psychomotor Retardation in a Female Patient with 15.4 Mb Deletion of 14q12 q21.2 and 550 kbp deletion of 18p11.23; Microarray Delineation of Imbalanced Chromosomal Rearrangement. D. Torun. 2603S Deletion of 17p11.2 encompasses FLCN with increased risk of Birt-Hogg-Dubé in Smith Magenis Syndrome: Recommendation for Cancer Screening. A. C. M. Smith. 2604M AMMECR1 gene disruption and expression impairment in a balanced X-autosome translocation patient. M. M. Oliveira.
2610M 48,XXYY Syndrome: a wide spectrum of phenotypic presentation. A case report. L. F. Imbachi. 2611T Clinical features of 5p13 duplication syndrome. T. Kuchikata. 2612S Klinefelter Syndrome (48, XXXY) in a Patient With Mild Mental Retardation and Psychotic Personality Traits. H. Pachajoa. 2613M Maternal Uniparental Disomy Prader-Willi Syndrome in an XYY boy. P. Phowthongkum. 2614T The Extended Phenotypic Spectrum of 7p14.315.3 deletion syndrome. M. Michelson-Kerman. 2615S Pigmentary mosaicism type Ito in a balanced X-autosome translocation with no gene disruption at the breakpoint. M. Melaragno. 2616M Down syndrome before Lejeune, Gauthier, and Turpin: Historical myths and reality. E. B. Hook. 2617T Implementation of high-resolution SNP arrays in the investigation of patients with neurodevelopmental disorders: 6 years of clinical experience. O. Palumbo. 2618S Idic(15) syndrome: clinical studies of 32 new individuals. A. Battaglia. 2619M Large distal duplication of chromosome 22q. D. Ortiz. 2620T Prader-Willi syndrome: Toward Automated Identification of Phenotypic Differences. L. Wolf. 2621S Wiring the Brain in Down Syndrome: Unique Identical Twins Discordant for DS. J. R. Korenberg. 2622M Congenital Myasthenia Syndrome: Uniparental disomy of chromosome 2 and homozygous mutation of GFPT1. S. Rangasamy.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS
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2640M Diamond-Blackfan anemia and intellectual disability: a new contiguous gene syndrome at 15q25.2. M. Gorce.
2624S Intragenic CNTN4 Deletion in a Child with Profound Speech Apraxia and Absence of Autistic Features. J. Fleischer.
2641T Expanding the Phenotypic Profile of Kleefstra Syndrome: a Female with Near-Normal Intelligence and Developmental Dyspraxia. D. Sisson.
2625M A 284kb microduplication at 7q21.11 involving SEMA3A possibly linked to agenesis of corpus callosum and visual impairment in a patient with spastic quadriparetic cerebral palsy. D. Ma.
2642S Craniofacial Dysmorphism And Mild Intellectual Disabilities In A Child With A Paternally Inherited 14q32.1 Deletion. Y. Wang.
2626T Craniosynostosis in Williams Syndrome. N. Okamoto. 2627S Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications. P. Szafranski. 2628M Subtelomeric investigation in individuals with microform of HPE. L. Ribeiro-Bicudo. 2629T Discontinuous microdeletion at 1p13.3 involving NBPF4 but not ALX3 in a patient with severe frontonasal dysplasia. A. Ali. 2630S Growth Standards for Children and Adolescents with Smith-Magenis Syndrome. L. R. Fleming. 2631M Phenotype of double de-novo Williams and DiGeorge microdeletion syndromes. A. Shukla. 2632T One cannot presume siblings with similar clinical findings result from the same underlying genetic cause!—familial genome instability, leaky proof reading mechanism, or true diagnosis? A. Tsai. 2633S An interstitial microduplication in 17q11.2 encompassing the NF1 gene, in a girl presenting with a Prader Willi like syndrome: expanding the NF1 microduplication. C. Vinkler. 2634M Bilateral absence of the ulna in 4q terminal deletion syndrome. M. Marble. 2635T Congenital heart disease and Sturge-Weber syndrome in a young female with 22q11.2 triplication. L. Mota-Vieira. 2636S Familial 17q12 duplication presented as SGA/IUGR and microcephaly during pregnancy: A counseling dilemma. A. Singer. 2637M Atypical 22q11.2 deletion at the distal end of the common 3Mb deletion. N. Bhatia.
2643M Clinical features and molecular characterization in a subject with an interstitial deletion of 2q24.2. H. Yoshihashi. 2644T 22q11 deletion size in Chilean patients and association with clinical features. G. M. Repetto. 2645S Unknown CNVs found in 52 Bulgarian patients with intelectual disability and congenital malformations. S. P. Hadjidekova. 2646M A rare case of speech sound disorder with a heterozygous BCL11A deletion. A. Huang. 2647T Congenital asplenia in a patient with chromosome 1p36 deletion. L. Pisani. 2648S De novo deletion of 5q23.2-q31.1 in a boy with global developmental delay, contractures and dysmorphic features: a contiguous gene deletion syndrome involving morphogenesis and DNA repair. A. Guerin. 2649M A case with mild phenotype of holoprosencephaly is caused by de novo hemizygosity for chromosome 2q14.1-q14.3 involving GLI2 gene. E. Kirtas. 2650T Severe fetal phenotype of a dominant mesomelic dysplasia, associated with a 790 kb microduplication of HOXD gene cluster at 2q31.1. S. Odent. 2651S Adaptive and Maladaptive Behavior, Profiles and Developmental Trajectories in Children with Subtelomeric Microdeletions. G. S. Fisch. 2652M Mosaic 15q11-q13 maternal duplication without Autism. N. Urraca. 2653T Prevalence of “Y” chromosome microdeletions in infertile males of Gujarat Population, India. T. A. Patel.
2638T A novel microdeletion affecting SNRPN but preserving distal gene expression leads to Prader-Willi Syndrome. T. Diallo.
2654S A microdeletion encompassing only three genes within the Potocki-Shaffer syndrome interval at 11p11.2 associated with intellectual disability and craniofacial anomalies. J. D. J. Labonne.
2639S Overgrowth in association with 3q25 microdeletion. K. Enomoto.
2655M Recurrent microdeletion 12p13 in maternal halfsiblings suggestive of gonadal mosaicism. A. F. Elias.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS
2623T Craneofacilales and features aspects oral of children with the poblano child hospital goldenhar syndrome in the period 2013-2015. D. Reyes Ramirez.
174
POSTER SESSIONS
2656T Chromosome microarray analysis in patients with cleft lip/ cleft palate. P. Eydoux.
2672S A CHARGE syndrome-like phenotype in a patient with EP300 splicing mutation. S. Mizuno.
2657S Xq27.3-q28 duplication syndrome: a new consideration in the differential diagnosis of PraderWilli syndrome. M. R. Garcia.
2673M Detection of GPC3 gene deletion by chromosomal microarray analysis in a patient with uncharacteristic Simpson- Golabi- Behmel syndrome. A. Pietrzyk.
2658M Behavioral, Biochemical and Anthropometric Characteristics of patients with PWS. H. El-Bassyouni. 2659T A new chromosomal rearrangement resulting in Axenfeld-Rieger syndrome. L. El Khattabi. 2660S Fetal Skeletal Dysplasias in a Tertiary Care Centre: Radiology, Pathology, and Molecular Analysis of 112 cases. D. Chitayat.
2674T A further case of ESCOBAR syndrome : Definition of novel mutation in CHRNG gene. I. Tekin. 2675S De novo heterozygous deletion involving NFIX in a Japanese subject with severe intellectual disability, postnatal growth delay and relative macrocephaly. D. T. Uehara.
2661M Rare case of combination osteogenesis imperfecta and genetic skin disease. N. M. Marycheva.
2676M Facial dysmorphism, skeletal abnormalities and central nervous system abnormalities in two sibs born to a consanguineous couple: A new autosomal recessive condition. L. Chad.
2662T INCONTINENTIA PIGMENTI: A Case Report Associated With Cleft Lip Palate in a Patient at Smile Operation Foundation, Bogotá - Colombia. M. Montiel.
2677T Paraspinal neurofibromas in LEOPARD syndrome. E. Conboy.
2663S MuSK - a new target for lethal fetal akinesia deformation sequence (FADS). M. Wilbe.
2678S Transcriptional hallmarks of Neurofibromatosis type I in whole blood cells. G. Picco.
2664M Diagnosis, planning and educational evaluation in genetics as interactive material, with students from a medical odontological university and multidisciplinary evaluation at a pediatric hospital. Turner, klinefelter, criduchat, down, Duchenne, Mucopolysacharidossis, Muscular dystrophy. R. Aparicio.
2679M Fibrodysplasia ossificans progressiva (FOP): A case report. I. M. Salazar-Dávalos.
2665T Duplication of approximately 320 kb in the chromosomal region 7p15.1 in a girl with Peho-like phenotype, and in her normal father. M. Giovannucci Uzielli. 2666S An interstitial microdeletion of 4q21 in a girl with pituitary insufficiency associated with empty sella, epilepsy, severe growth impairment, and profound intellectual disability. E. Nishi. 2667M The phenotypic variability of split hand and split foot malformation. T. Yokoi. 2668T Clinical Implementation of Chromosome Microarray Analysis in Singapore. H. Law. 2669S Natural history and clinical management of patients with ASXL1 mutations and Bohring-Opitz Syndrome, including the first report of Wilms Tumor in two patients. B. Russell. 2670M Clinical and epidemiological study of orofacial clefts. S. Raskin. 2671T Lateral Meningocele (Lehman) Syndrome: A Rare Connective Tissue Disorder Craniofacial Dysmorphism. M. Carter.
2680T Quantitative phenotype evaluation and management in osteogenesis imperfecta: Egyptian Experience. M. S. Aglan. 2681S Rare Cases of Congenital Arthrogryposis Multiplex without pterygium due to novel CHRNG Mutations. S. Jieun. 2682M A case of low frequent somatic and/or germline mosaicism in the ARSE gene detected by deep sequencing using NGS. T. Kaname. 2683T A further case of Hajdu-Cheney syndrome having a novel mutation in NOTCH2 gene. A. Kavasoglu. 2684S Expanding the diagnostic spectrum of terminal transverse limb defects: atypical mutations in ACVR1 result in a phenotype with elements of Adams Oliver syndrome and Fibrodysplasia Ossificans Progresiva. R. Mendoza-Londono. 2685M A novel homozygous mutation in FGFR3 causes tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly and arachnodactyly. S. A. Temtamy. 2686T Longitudinal observation of clinical and radiological findings in a patient with Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type caused by a heterozygous mutation in KIF22. B. Tuysuz.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS 2687S Novel mutation in CLTC associated with multiple malformations and developmental delay. J. DeMari.
2689T Comprehensive clinical characterization of VCP associated multisystem proteinopathy. V. E. Kimonis. 2690S Identification of a novel variant in TMEM67 gene responsible for JBTS6 by whole exome sequencing. A. Najmabadi. 2691M Truncating mutation of NFIA causes a brain malformation and urinary tract defect. Y. Negishi. 2692T De novo 109 kb microdeletion of MED13L: report of a new patient with developmental delay, facial abnormalities and hypotonia. E. A. Repnikova. 2693S Novel gene mutation in Schimmelpenning syndrome (nevus sebaceous syndrome). Y. Kuroda. 2694M Neurofibromatosis type 1 and Optic Gliomas. E. Parkhurst. 2695T Genetic heterogeneity in Van der Woude syndrome. P. Kumari. 2696S Exomic sequencing and molecular analysis of IRF6 gene in patients with van der woude syndrome or familiar history of clefting in patients from smile bogota colombia. L. Patino. 2697M WNT signalling and eye development disease genes. I. Prokudin. 2698T A novel mutation in two patients with Fabry disease. L. Wong-Ley. 2699S Rasopathies and RAS/MAPK pathway disorders: Genetic screening of a cohort of 37 Tunisian children. N. Abdelmoula. 2700M Prenatal and natal findings in a patient with Timothy syndrome type 1. J. R. Corona-Rivera. 2701T Antithrombin deficiency in a founder population: different genetic architectures for types 1 and 2. P. Salo. 2702S Novel mutation in SCN3A associated with multiple anomalies and encephalopathy. S. Jhaveri.
2706M Stargardt Disease (Juvenile Macular Degeneration), Clinical Analysis in Patients of the Colombian Population. L.Ma. Mora. 2707T Atrophic skin patches with abnormal elastic fibers, as a presenting sign of MASS phenotype associated with mutation in the Fibrillin-1 gene. E. Reinstein. 2708S Congenital ophthalmoplegia: Dysinnervation, myasthenia or myopathy? Can genetics have an answer? S. Shaaban. 2709M Chromosome deletion 11q13.1 involving deletion of the CLCF1 gene in a female with features of Cold-Induced Sweating Syndrome. J. D. WeisfeldAdams. 2710T Functional studies of EZH2 histone methyltransferase activity in Weaver syndrome. A. S. A. Cohen. 2711S Cantu syndrome: Delineation of cardiovascular abnormalities in six affected individuals evaluated at a research clinic. D. Grange. 2712M Exome sequencing reveals compound heterozygous mutations in ATP8B1 in a JAG1/NOTCH2 mutation-negative patient with clinically diagnosed Alagille syndrome. C. M. Grochowski. 2713T New dominant mutations in SF3B4 encoding an mRNA spliceosomal protein important in embryonic limb patterning underlie Rodriguez acrofacial dysostosis. M. D. Irving. 2714S New case of a small AFF2 (FMR2) intragenic deletion associated to development delay causing a Fragile X E phenotype. E. Pipiras. 2715M Disruption of HDAC8 gene due to partial duplication in a female with Cornelia de Lange syndrome diagnosed by SNP microarray. S. Ramanathan. 2716T Exome sequencing of individuals with nondeletion Smith-Magenis syndrome reveals potentially causative genic variants. J. J. White. 2717S Cervical myelopathy in a patient with metatropic dysplasia caused by a TRPV4 mutation. E. ZapataAldana. 2718M CNS Involvement in OFD1 syndrome: a Clinical, Molecular, and Neuroimaging study. B. Franco.
2703M Evidence of germline mosaicism in Fibrodysplasia Ossificans Progressiva post discovery of the ACVR1 gene. M. B. Alcausin.
2719T Neurofibromatosis type 1: Familial case and retroperitoneal neurofibroma. M. A. Aceves-Aceves.
2704T Multi-systemic Involvement in NGLY1-related disorder Caused by Two Novel Mutations. J. Heeley.
2720S Clinical-pathological features in a female infant with Pfeiffer syndrome type 3 negative for FGFR2 mutation. A.K. Sandoval Talamantes.
2705S Is SMN2 related to severity in Spinal Muscular Atrophy?: A case report. PM. Hurtado.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS
2688M Two cases of lissencephaly with marked hydrocephalus caused by TUBA1A mutation. N. Ishihara.
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POSTER SESSIONS
2721M Identification of structural alterations in the CX50 gene in patients with congenital cataracts. A. L. Araujo.
2738S A Case report of disorders of sex development: Female patient whit novel mutation in AR gene and 45,X[5]/46,XY[95] karyotype. J. Prieto.
2722T Female with a Complex Phenotype Associated with Variants in Two Neurodegenative Genes Detected by Whole Exome Sequencing: Diagnostic and Counseling dilemma. M. Khalifa.
2739M Complex Genomic Presentation in the NICU. A. Khromykh.
2723S Whole exome sequencing allows the identification of a novel large deletion in PRPF31 in a family with autosomal dominant retinitis pigmentosa. B. Almoguera. 2724M Whole gene duplication and partial duplication and triplication of OPHN1. J. G. Pappas. 2725T A Unique Family with Progressive Pseudorheumatoid Arthropathy of Childhood. A. Neogi.
2740T Deep sequencing detects very low-grade somatic mosaicism in the unaffected mother of siblings with nemaline myopathy. E. Koshimizu. 2741S Identification of RIT1 mutations in patients with RASopathies by clinical whole exome sequencing. P. Liu. 2742M Splicing mutation in IQSEC2 gene modulating the phenotype in three siblings with intellectual disability. I. Madrigal. 2743T A novel mutation in gapo syndrome. S. Sestito.
2726S Mutation in the EZH2 gene in a Brazilian family Complex clinical findings. D. L. Polla. 2727M A Novel Mutation, p. (Lys1474*), in a Female adds Seizures and Ptosis to Clinical Findings in MED13L Haploinsufficiency Syndrome. M. M. Ali. 2728T Case report: Acromesomelic dysplasia with primary congenital glaucoma, and a distinct pattern of brachydactyly in a Brazilian patient. W. A. R. Baratela. 2729S An autosomal recessive microcephaly syndrome with primordial growth failure and pigmentation changes is caused by mutations in the gene ANKLE2. R. Clark. 2730M A new craniofacial syndrome caused by localized mutations in TWIST1. A. L. Fenwick. 2731T Autosomal Dominant Opitz GBBB Syndrome. PS. Kruszka. 2732S Clinical and pathological features of an infant with concurrence of C syndrome and renal-hepaticpancreatic dysplasia. C. Peña-Padilla. 2733M Molecular genetic study of 75 patients with X-linked alpha-thalassemia and mental retardation (ATR-X) syndrome in Japan. H. Shimbo. 2734T Impact of Plexiform Neurofibromas on Adult Patients with Neurofibromatosis type 1. S. Stueber. 2735S Early Onset Epileptic Encephalopathy Caused by de novo SCN8A Mutations. H. Saitsu. 2736M Recessive TBC1D24 mutations cause earlyonset epileptic encephalopathy and sensorineural hearing loss. K. Writzl. 2737T Kindler Syndrome: Novel and Recurrent FERMT1 Mutations in Iranian Families. L. Youssefian.
2744S Mutation identification in New Zealand populations: a pilot study in neurodevelopmental disorders. J. Jacobsen. 2745M Whole exome sequencing identified a novel RAB3GAP1 mutation in Turkish patient with Micro Warburg Syndrome. B. Yuceturk. 2746T Molecular Diagnosis of Congenital Limb Defect Syndromes by Next Generation Sequencing. G. Mendiratta-Vij. 2747S Mutation spectrum and report of 4 novel mutations in IDS gene in Indian patients with Hunter syndrome. G. Verma. 2748M The first two AUTS2 mutations on the nucleotide level causing AUTS2 syndrome. G. Beunders. 2749T Novel mutations and clinical outcomes of copper-histidine therapy in Menkes disease patients. G. Kim. 2750S Genetic analysis of an atypical case of Branchio-Oto-Renal (BOR) Syndrome. R. Birkenhager. 2751M Mutations in ERF gene as a new genetic cause of craniosynostosis - enabling parents and clinicians to understand why a child is affected. A. Chaudhry. 2752T COlobomatous Microphthalmia, Macrocephaly, Albinism and Deafness (COMMAD syndrome), a new syndrome caused by biallelic mutation of MITF: clinical characterization and molecular analysis. A. George. 2753S A novel missense mutation of ryanodine receptor 1 (RYR1) in a Japanese idiopathic hyper CKemia family. K. Sano. 2754M De novo mutation in SOX18 causes a novel form of Hypotrichosis-Lymphedema-Telangiectasia with severe vascular defects. F. Wünnemann.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS 2772M Phenotypic characterization of Microtia in Bogota, Colombia. LP. Barragan Osorio.
2773T Congenital eye malformations and associated clinical aspects in two Colombian cities (Bogotá- Cali) between 2011-2013. A. M. Garcia.
2756S Increased Suseptibility to Attention Deficit Hyperactivity Disorder risk in Marfan Syndrome and Other Connective Tissue Disorders. A. Hall.
2774S Phenotypic diversity in patients diagnosed with VACTERL association. M. Husain.
2757M A novel mutation in OPN1MW in a brazilian patient with x-linked retinal cone dystrophy type 5. A.CV. Castro.
2775M Brooke-Spiegler syndrome: A rare association of thichoepithelioma, cylindroma and spiradenoma. Report of a familial mexican case. N. O. Davalos.
2758T Cerebrofaciothoracic dysplasia: a case report with molecular search for TMCO1 mutation. J. Rivera.
2776T Disruption of the osteogenic niche signaling in craniosynostosis: primary cilium and prostanoid pathways crosstalks. W. Lattanzi.
2759S CFTR: p.I1023R is a rare but recurrent diseasecausing mutation found in Chinese patients with Cystic Fibrosis. B. H. Y. Chung. 2760M Identification of a novel ERCC8 mutation in a 10 year old brazilian female with Cockayne Syndrome type 1. L.FOB. Chaves. 2761T Identification of a novel RP1L1 mutation in a 38-year-old brazilian female with retinal cone dystrophy. A.AN. Rocha. 2762S Craniofacial syndromes and genetic variability in a pediatric hospital in mexico. W. San Martin-Brieke. 2763M Exploring somatic mosaicism in uterovaginal aplasia. X. Bonilla. 2764T An extended Turkish family with FBN1 mutation and variable clinical phenotype. S. Temel. 2765S Combination Biotin Responsive Encephalopathy and Hemiplegic Migraine Disorder presenting as Autism and episodic limb dysfunction/seizures in a 10 year old girl. P. Benke. 2766M New cases of patients with developmental delay and incidental findings of chromothripsis. O. Caluseriu. 2767T Pediatric patients clinical evolution with postoperative nasal retainer for bilateral lip and cleft palate (BLCP). J. Marin-Melo.
2777S Genotype-phenotype correlation in 12 patients with Oculoariculovertebral spectrum. S. Bragagnolo. 2778M An autosomal recessive PGAP3 novel mutation was identified in patients with severe intellectual disability, dysmorphism and hyperphosphatasemia from 2 unrelated families using whole-exome sequencing. V. Adir. 2779T Significant Secondary Findings of Exome Sequencing in Minor Anomalies with Autism Spectrum disorder . A. Alsadah. 2780S Association of UBE3B and GRIN2B gene variants with autism spectrum disorders and nonsyndromic intellectual disability: a case report. A. I. Sanchez. 2781M Congenital Limb Reduction Defects Associated with Maternal Thrombophilia. L. Ordal. 2782T Whole Exome Sequencing of Moyamoya Disease. S. Jang. 2783S Defining a new syndrome of cutis laxa, holoprocencephaly and cerebellar agenesis with overexpression of NRG3. A. Ramalingam. 2784M A case of 16p11.2 duplication syndrome and review of the literature. B. J. Ilagan. 2785T Maternal UPD(16) with IUGR, transient neonatal hypoglycemia and cholestasis. H. Lesmana.
2768S Clinical Aspects associated with Syndromic forms of Orofacial Clefts in Colombia. I. Briceno. 2769M Distribution of the AKT1 p.Glu17Lys mutation in a patient with Proteus syndrome. M. j. Lindhurst. 2770T Utility Of Genetic Testing In Patients With Suspected Fetal Alcohol Spectrum Disorder. S. S. Jamuar. 2771S Is a computer-based Facial Dysmorphology Novel Analysis ready for the clinic? L. Basel-Vanagaite.
Prenatal, Perinatal and Reproductive Genetics 2786S Falling serum estradiol levels prior to human chorionic gonadotropin on follicle growth and pregnancy outcomes in in vitro fertilization cycles. X. Bao. 2787S The LH gene mutation and controlled ovarian hyperstimulation. M. R. Ranjouri.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS
2755T A novel case of Epidermolysis Bullosa with Pyloric Atresia due to homozygous mutation of c.600delC in integrin 4 gene: Clinical, Immunohistological and Molecular Diagnosis. S. Yilmaz.
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POSTER SESSIONS
2788S Match Study of Sperm Relative Factors on the IVF Outcome. M. Zhang.
2805S Exome chip evaluation of genetic variants for association with uterine fibroids. M. J. Bray.
2789S Prenatal diagnosis of Apert Syndrome: fetal brain phenotype on imaging. Z. Stark.
2806S Familial Infertility with Sex-limited Autosomal Recessive Inheritance. H. Huang.
2790S Fibrodysplasia ossificans progressiva: bilateral hallux valgus on ultrasound as clue for the first prenatal diagnosis for this condition -case report. C. Maftei.
2807S Expression of Aurora Kinase C splice variants in human oocytes and cumulus cells. J. E. Fellmeth.
2791S Campomelic dysplasia: Prenatal Ultrasound and Autopsy Findings in Early Pregnancy. K. Chong. 2792S Importance of Fetal Fraction Analysis for cfDNA Testing in the General Pregnancy Population. E. Wang. 2793S Maternal subchromosomal abnormality identified through noninvasive prenatal testing (NIPT). C. Settler. 2794S Thrombophilic Mutations for Recurrent Miscarriage in Iranian women with or without Thrombophilia. H. Mirtavoos-Mahyari. 2795S Validation of a taxonomy of genetic conditions for pre-conception genetic carrier testing. T. L. Kauffman. 2796S Tay-Sachs disease enzyme carrier screening does not perform well in a pan-ethnic population when compared to DNA analysis. V. Greger. 2797S Analysis of Y-chromosomal microdeletions in an azoospermic patient candidate for an assisted reproductive technique. M. Rongioletti. 2798S First Experiences with Non invasive Genetic testing in Switzerland. J. Esslinger. 2799S Carrier screening for recessive disorders through exome sequencing. P. Makrythanasis. 2800S IL-10 Promoter polymorphism (592C/A) in women with recurrent miscarriages in Punjabi population (India). A. Kaur. 2801S Tay-Sachs carrier screening by enzyme and molecular analyses in the New York City Black population. G. A. Lazarin. 2802S Prospective exome sequencing of consanguineous couples: First steps. H. MeijersHeijboer. 2803S A new computational approach for reproductive genetic risk assessment with over 10-fold greater sensitivity than carrier screening. A. Silver. 2804S Genetic Polymorphism Of Hsp-70 and Tp-53 Gene In Indian Preeclamptic Women With Placental Vasculopathies. S. KUMAR.
2808S Understanding the genetics of spermatogenic failure by resequencing the sex chromosomes of infertile men. R. George. 2809S A rare familial non-Robertsonian translocation involving chromosomes 15 and 21 and failure of reproduction: Is there a correlation? R. Frikha. 2810S Screening Uniparental disomy in recurrent miscarriage couples. YP. Sun. 2811S The correlation between Y chromosome partial micro-deletions and recurrent pregnancy loss. Z. Sarrafi. 2812S Predictive value of sperm count and motility in the assessment of sperm morphology in infertile men. S. Daoud. 2813S Nelf affects GnRH migration and secretion in mouse puberty and fertility. EK. Ko. 2814S High throughput sequencing of short sequence tags(STS) uncovers novel Y chromosome deletions associated with non-obstructive azoospermia. X. Liu. 2815S Expression of hsa-miR-34b, hsa-miR-181c, hsa-miR-449b, hsa-miR-517c and hsa-miR-605 in FFPE testicular tissues of infertile men with different impairments of spermatogenesis. D. PlaseskaKaranfilska. 2816S Novel mutations in spermatogenesis genes in azoospermic and severely oligospermic men. K. A. Fakhro. 2817S HLA-G gene polymorphisms in Mexican women with recurrent abortions. A. Porras. 2818S Performance and Limitations of SequencedBased Cell-Free DNA Aneuploidy Screening: Experience of a Tertiary Referral Center and Importance of Confirmatory Follow-Up Studies. Y. Liu. 2819S Referral of patients for pre-implantation genetic diagnosis: a survey of clinicians. K. Barlow-Stewart. 2820S Four years later: the state of PGD in Quebec. Professional perspectives on medical indications and regulations. F. Duplain-Laferrière. 2821S 4-Hour Concurrent Preimplantation Genetic Diagnosis of 24-Chromosomes Aneuplody, Single Gene Disorders, And Micro-Deletion and Duplications. C. Jalas.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS
179
2837S Phocomelia in Thrombocytopenia-absent radius (TAR) Syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A hypomorphic allele. Report of two cases. R. Jobling.
2823S A Simple and Streamlined Next-Generation Sequencing-based approach to Preimplantation Genetic Screening. M. Umbarger.
2838S Unexpected findings using SNP-array for prenatal diagnosis: benefit or burden? M. Joosten.
2824S Preimplantation genetic risk reduction (PGR) - a new concept in the era of microarray CGH and exome sequencing. G. Altarescu. 2825S Fetal intracerebral hemorrhage and cataract: think COL4A1. E. Colin. 2826S The Israeli experience of the first 300 Panorama™ tests that use 19,488 single nucleotide polymorphisms (SNPs) followed by high-throughput sequencing for common trisomies risk assessment. H. N. Baris Feldman. 2827S First trimester trisomy 18 screening using fetal epigenetic marker and nuchal translucency. D. E. Lee. 2828S Prenatal array CGH and follow up of fetuses with increased nuchal translucency: results from VUmc. K. E. Stuurman. 2829S Non Invasive Prenatal Testing and Prevention of chromosomal and Genetic Disorders. A. Al-Aqeel. 2830S Susceptibility loci for neurodevelopmental disorders -prenatal genetic counseling and psychological impact. K. E. M. Diderich. 2831S Placenta whispers: Discordant noninvasive prenatal testing (NIPT) results and the role that confined placental mosaicism (CPM) plays. T. Boomer.
2839S NIPT in a Clinical Setting: Patient Decisions and Pregnancy Outcomes. C. Kenyon. 2840S Prenatal array comparative genomic hybridization (aCGH) in fetuses with structural cardiac anomalies in a medium-sized Canadian Prenatal Genetics Clinic. J. Lazier. 2841S Non-invasive Prenatal Diagnosis of Duchenne Muscular Dystrophy: Comprehensive Genetic Diagnosis from Patient to Fetus. B. Lim. 2842S Safeguarding non-invasive prenatal testing with spiked sample tracking barcodes. K. Neveling. 2843S Maternal copy number variants contribute to the burden of false positive prenatal aneuploidy test results. M. W. Snyder. 2844S Whole-genome prenatal sequencing and integrative genomics: Detection of structural variation from invasive and non-invasive approaches. M. Talkowski. 2845S Demonstration of Equivalent Performance for a Noninvasive Prenatal Test (NIPT) using High Output and Rapid Throughput Modes of a Sequencing Instrument. R. C. Tim. 2846S False negative NIPT results for trisomy 13, 18 and 21: risk figures derived from cytogenetic investigations in chorionic villi. D. Van Opstal.
2832S Transcriptome expression analysis of amniotic fluid cell free fetal RNA according to gestational weeks in Korean women. Y. Jung.
2847S Prenatal detection of fetal aneuploidy on the Ion Torrent Proton platform. T. Zwiefelhofer.
2833S Fragile X prenatal studies suggest mothers with >80 repeats transmit the normal allele in 55% of pregnancies. S. L. Nolin.
2848S Utilization of a SNP array in prenatal diagnosis of Ellis van Creveld syndrome in a consanguineous couple; a case report. B. Suskin.
2834S Differences of transcriptional profiling analyses between cell free mRNA and mRNA originated from amniocytes in amniotic fluid using GeneChip® PrimeView™ Human Gene Expression Array. D. H. Cha.
2849S Uniparental origin GWAS of human gestational age implicates genes involved in angiogenesis. J. Bacelis.
2835S Methods for Isolation and Enrichment of circulating cell-free fetal DNA (ccff DNA) from maternal plasma, for Non-Invasive Prenatal Tests (NIPT), such as the MaterniT21™ PLUS Laboratory Developed Test. G. DeSantis. 2836S Prenatal diagnosis of mosaic isochromosome 20q detected in amniocentesis. S. Ito.
2850S Long non-coding RNAs associated with ubiquitin pathway involved in preterm premature rupture of membrane. N. Zhong. 2851S Association of candidate gene single nucleotide polymorphisms with the clinical subtypes of preterm birth (PTB). L. G. Gimenez. 2852S TLR1 SNP associated with preterm birth in a Wisconsin birth cohort. D. Pillers.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS
2822S The frequency, type and classification of chromosome errors differs at the pre-implantation stage from that observed during pregnancy. M. Schweitz.
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POSTER SESSIONS
2853S Whole Exome Sequencing of Hispanic Infants Reveal Novel Pathways Implicated In Spontaneous Preterm Birth. M. K. Veerapen.
2867M Knock-in human FGFR3 achondroplasia mutation as a mouse model for human skeletal dysplasia and potential therapy evaluation. Y. Lee.
2854S Noninvasive detection of a balanced fetal translocation from maternal plasma. S. Kim.
2868T Retinal vascular lesions associated with mutations in Col4a1. M. Alavi.
2855S Low folate levels and MTHFR polymorphism C677T in case-mothers of children with neural tube defects and control-mothers of Pakistani origin. A Case- control study. N. Nauman.
2869S Inflammatory demyelination in a duplication mouse model of Pelizaeus-Merzbacher Disease. G. M. Hobson.
2856S Fetal demise: diagnosis and management. Initial experience in the state of Indiana - 129 patients. M. Tucker. 2857S Molecular and histopathological findings in placentas of newborns with Down Syndrome. R. García-Robles.
2870M Poc1a, a component of the centriole and cilia, causes skeletal dysplasia and male infertility: a mouse model. K. A. Geister. 2871T Using electroporation as a model of degeneration/regeneration to investigate the regenerative potential in neuromuscular disorders (NMD). M. Vainzof.
2858S Rising Whole Body Counts of 137Cs (WBC) in Pregnant Women and Persistent Elevated Rates of Neural Tube Defects (NTD) and Microcephaly/ Microphthalmia (M/M) in a Chornobyl Impacted Region of Rivne (R) Province in Ukraine. W. Wertelecki.
2872S Definitive Implication of Innate Immunity in the Pathogenesis of Scleroderma. E. Gerber.
2859S Assessing the causal relationship between maternal height and birth outcomes: A Mendelian randomization analysis. G. Zhang.
2874T Social and maternal behaviours are affected by a mutation in Gtf2ird2 in Williams-Beuren Syndrome mouse model system. N. Sharmin.
2860S Maternal and placental genome-wide and candidate gene association studies of placental abruption. M. Denis.
2875S Canine developmental disorder maps to the critical region of human 22q11.2 deletion syndrome. M. Hytönen.
2861S Comprehensive genotype phenotype correlations reveal NLRP7 role in regulating the balance between embryonic tissue differentiation and trophoblastic proliferation. NMP. Nguyen.
2876M A transgenic zebrafish model for facioscapulohumeral dystrophy. A. Lek.
2862S Kidney disease genes linked to Hyperemesis Gravidarum. M. Schoenberg-Fejzo. 2863S Interbirth interval varies according to HLA inheritance of first and second born siblings. C. A. Gentil.
2873M Human-Mouse:Disease Connection, new pathway to discovery. J. T. Eppig.
2877T Role of palmitoylation in alopecia and skin abnormality in genetic deficiency of Zdhhc13 in Mice. K. Liu. 2878S Mouse Models: Effective Therapeutics Development and Comparative Genomics. C. L. Smith.
2864S The genetic basis of preeclampsia in a high altitude indigenous Andean population. C. R. Gignoux.
2879M Rapid Approaches in Functional Validation of Candidate Disease Genes Identified from Structural Rearrangements and Next-Generation Sequencing. R. Greenlees.
2865S Molecular and pathological abnormalities in placentas of pregnancies complicated by preeclampsia. P. A. Ayala-Ramírez.
2880T Natural genetic modifiers of autosomal dominant retinitis pigmentosa and ER stress. C. Y. Chow.
Molecular Basis of Mendelian Disorders 2866S A ‘conditional-ON’ mouse model of Fibrosyplasia Ossificans Progressiva (FOP). A. N. Economides.
2881S AIPL1 mutation in Persian cats defines a new model for Leber’s Congential Amaurosis. B. Gandolfi. 2882M Genome-wide linkage analysis in conjunction with whole exome sequencing for identification of deafness-causing genes in multi-generational families. M. Grati. 2883T ILDR1: Novel mutation and a rare cause of congenital deafness in the Saudi Arabian population. K. Ramzan.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS 2884S Homozygosity mapping of families with autosomal recessive intellectual disability and examination of WWOX, GFRA3, and PTBP1 genes. A. Alkhateeb.
2886T Mutation Screening in PRPF31 in an Autosomal Dominant Retinitis Pigmentosa (ADRP) Family with Incomplete Penetrance. S. Bhatia. 2887S Molecular Genetic Analysis in an Autosomal Recessive Retinitis Pigmentosa Family of Indian origin. S. Goyal. 2888M Achromatopsia Genetic Determinants in Palestinian Families. H. Shahin. 2889T Mutations in ALDH1A3, FOXE3 and VSX2 cause ocular abnormalities in consanguineous Pakistani families. E. Ullah. 2890S Two novel mutations in ABCG5 and ABCG8 genes in a Mexican family with sitosterolemia. A. Colima.
2900M GeneSEARCH - Diagnostic testing and a tool for research in the Iranian Population. E. G. Ozkan. 2901T HIVEP2: A New Causative Gene for Intellectual Disability? A. M. Zink. 2902S DUX4 induces FRG2 expression by directly activating its promoter in facioscapulohumeral muscular dystrophy. P. E. Thijssen. 2903M Expansion of the spectrum of nuclear envelopathies: mutation in TOR1AIP1 associated with muscular dystrophy. P. Dincer. 2904T Association of IFRD1 gene polymorphisms with nasal polyposis in Cystic Fibrosis. A. Baldan. 2905S A missense mutation in hexokinase 1 (HK1) causes autosomal dominant retinitis pigmentosa (adRP). S. P. Daiger. 2906M A novel disease-causing gene for PelizaeusMerzbacher disease. M. Nafisinia. 2907T Identification of a homozygous CLN5 mutation p.S312N in a family with adult-onset cerebellar ataxia. A. Brusco.
2891M Identification of hemizygous loss-of-function mutations in OFD1 in two unrelated male patients with a clinical phenotype of primary ciliary dyskinesia (PCD). W. B. Hannah.
2908S Search for missing regulatory region mutations at the DFNB1 locus in GJB2 heterozygotes with deafness. J. Foster.
2892T A Novel Homozygous LRP5 Splice-site Deletion Mutation Causes Syndromic Autosomal Recessive Familial Exudative Vitreoretinopathy. V. Chini.
2909M Identifying causative gene variants for hearing loss using a target enrichment/next generation strategy. D. Tekin.
2893S A Mutation in SORBS2 Actin filament Adapter, Cell Adhesion, Migration and Intracellular Signaling Protein Causes Autosomal Recessive Hand and Foot Malformation Syndrome. H. El-Shanti.
2910T Application of whole exome sequencing for identification of deafness causative genes in small families. D. Yan.
2894M A Mutation in MYO1A Causes Autosomal Recessive Autism Spectrum Disease. M. Kambouris.
2911S Genetic analysis of Rubinstein-Taybi Syndrome. S. de Boer.
2895T Linkage Analysis and Gene Identification in Consanguineous Pakistani Families with Autosomal Recessive Retinal Dystrophy. M. Ansar.
2912M The utility of clinical exome sequencing in identifying the genetic origins of eight unclassified developmental disorders in unique Canadian populations. S. M. K. Farhan.
2896S Genetic linkage analysis of familial PFAPA in Finland. E. Einarsdottir.
2913T Protein-altering rare variants in candidate genes in patients with Biliary Atresia. R. Rajagopalan.
2897M Haploinsufficiency of a novel gene on 3p26.1, SMDD1, cause autosomal-dominant dentin dysplasia type I. F. Xiong.
2914S Whole genome sequencing of mummy DNA shows significant association with human disease phenotype. S. Bhattacharya.
2898T Mutations in CCNO identified in patients with a clinical phenotype consistent with primary ciliary dyskinesia (PCD) and defective mucociliary clearance reflecting reduced motile cilia generation. M. A. Zariwala.
2915M Excess of de novo variants in genes involved in chromatin remodeling and regulation of transcription in patients with marfanoid habitus and intellectual disability. L. Faivre.
2899S Identification of New Genes and Pathways for Rare Infantile Forms of Spinal Muscular Atrophy and Neuromuscular Disorders. J. M. Hunter.
2916T Exome analysis of 116 patients supposed to be autosomal recessive hereditary spastic paraplegia established molecular diagnoses of 49 patients with broad genetic heterogeneities. H. Ishiura.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS
2885M Santos syndrome is caused by homozygous mutation in WNT7A. L. U. Alves.
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POSTER SESSIONS
2917S New candidate genes associated with autosomal dominant partial epilepsy with auditory features identified by whole exome sequencing. F. R. Torres. 2918M Hoyeraal Hreidarsson syndrome, a severe variant of dyskeratosis congenita, caused by biallelic mutations in TPP1. B. J. Ballew. 2919T Targeted next generation sequencing in DNA diagnostics for familial cancer. A. H. van der Hout. 2920S Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing. M. E. Elasrag. 2921M Homozygosity mapping and exome sequencing of a Faroese family with albinism. K. Grønskov. 2922T Identifying novel genes that cause Rett syndrome by trio-based exome sequencing of MECP2negative patients. S. A. Sajan. 2923S Baratela Scott Syndrome is a recessive skeletal dysplasia syndrome caused by disruption of the XYLT1 gene. K. Sol-Church. 2924M Whole exome sequencing a consanguineous family in search for a novel genetic cause of CharcotMarie-Tooth (CMT) disease. S. Tey. 2925T Deciphering the genetic basis of idiopathic short stature. C. T. Thiel. 2926S Coffin-Siris syndrome is a BAF complex disorder. Y. Tsurusaki.
2934T Defective core protein IFT81 as a rare cause of a ciliopathy with neurological involvement. I. Perrault. 2935S Genetic study of patients with Joubert Syndrome and related disorders. T. Vilboux. 2936M The Role of Rare Variants in Genetic Predisposition to Statin-Induced Myopathy. V. Stranecky. 2937T Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies. N. Chassaing. 2938S Deciphering the endothelin pathway in auriculocondylar syndrome and isolated question mark ears. C. Gordon. 2939M Mutations in COG2 Encoding a Subunit of the Conserved Oligomeric Golgi Complex Cause a Congenital Disorder of Glycosylation. H. Kodera. 2940T De novo SOX11 mutations cause Coffin-Siris syndrome. N. Matsumoto. 2941S Copy Number Variations detection for Congenital Absence of bilateral ACL and PCL ligaments. Y. Liu. 2942M New standards in OMIM for gene-phenotype relationships in the era of whole genome/exome sequencing and a new way to follow disease gene discovery through MIMmatch. J. S. Amberger. 2943T Using an Augmented Exome to Improve Diagnostic Yield: Case Studies in Retinal Disorders. S. Garcia.
2927M Whole-Exome Sequencing and Linkage Analysis Reveal a Novel Genetic Locus for Autosomal Dominant Pattern Dystrophy of the Retinal Pigment Epithelium. A. Vincent.
2944S Identifying genetic determinants of poor cochlear implantation outcomes using massively parallel DNA sequencing. Y. H. Lin.
2928T Cardiomyopathy Pathology of a GSDIIIa Patient Revealed by Whole Genome Sequencing. Q. Zhao.
2945M Exome sequencing reveals TPO mutations in Pseudo-Pendred syndrome. A. Denomme-Pichon.
2929S PNPLA6 mutations in Laurence-Moon Syndrome (LMS) illustrate its distinct genetic etiology from Bardet-Biedl syndrome (BBS) and suggest its classification as part of a newly described neurodegenerative spectrum. H. Dollfus.
2946T Alleles of the reported deafness genes are major contributors to the etiology of moderate to severe hearing loss in Pakistani population. A. Imtiaz.
2930M Microdeletion in the PITX2 Upstream Region in a Family with Axenfeld-Rieger Syndrome. M. Walter. 2931T Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness. F. F. Hamdan. 2932S Nonsense mutation in coiled coil domain containing 151 gene (CCDC151) causes Primary ciliary dyskinesia. M. Erzurumluoglu. 2933M Combined exome and targeted gene NGS gene panel identifies mutations in CCDC151 as a cause of Primary Ciliary Dyskinesia. A. Onoufriadis.
2947S Mutations in a metabolic kinase gene lead to autosomal dominant retinitis pigmentosa. F. Wang. 2948M Expansion of the fibrosing poikiloderma phenotype caused by FAM111B to include cytopenia and pancreatic dysfunction. A. Seo. 2949T An atypical Bloom syndrome identified by exome sequencing in a ten year old girl with microcephaly. C. Dupont. 2950S Achieving genetic diagnosis in deaf patients with non-confirmative GJB2 genotypes using massively parallel DNA sequencing. C. J. Hsu.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS 2951M Megacystis microcolon intestinal hypoperistalsis syndrome and related phenotypes five new cases with two supporting the autosomal recessive inheritance hypothesis. C. A. Moreno.
2966M Recurrent mutations cause Ablepharonmacrostomia syndrome and Barber-Say syndrome. T. Davis. 2967T Mutations in MAB21L2 result in ocular coloboma, microcornea, and cataracts. B. Deml. 2968S Homozygous LRRC10 Mutation in Sporadic Pediatric Dilated Cardiomyopathy. P. A. Long.
2953S Comprehensive mutation analysis using Ion PGM in 95 patients with neonatal intrahepatic cholestasis. T. Togawa.
2969M Mutation in ANKFY1 as a Cause of CharcotMarie-Tooth Neuropathy. M. Park.
2954M An update on the CMTX3 locus: using whole genome sequencing to search for the elusive mutation. M. H. Brewer.
2970T Characterization of mutation negative autosomal dominant polycystic kidney disease families using whole exome sequencing. B. M. Paul.
2955T Pituitary hormone deficiency: hunt for novel causative genes and genetic contributions to variable penetrance and expressivity. Q. Fang.
2971S Whole Exome Sequencing to Uncover Causative Genes in Families with Inherited Autonomic Dysfunction. J. E. Posey.
2956S A Combined Exome sequencing and RNA-Seq Strategy Reveals a Novel Mutation in DOCK8 that Results in Immunodeficiency and Radiosensitivity. S. Khan.
2972M Exome sequencing identifies a recurrent de novo mutation in ZSWIM6 that causes Acromelic Frontonasal Dysostosis. J. Smith.
2957M Preliminary analysis of 14 Brazilian patients with Thyroid Dysgenesis using Whole Exome Sequencing. M. M. L. Kizys.
2973T The Gene Discovery Core: four years of experience in determining the genetic basis of orphan diseases. M. C. Towne.
2958T Whole-exome sequencing as a diagnostic tool reveals POC1A mutation in Primordial Dwarfism. A. Koparir.
2974S Exome sequencing identifies the cause of a novel multiple pterygium syndrome and expands the spectrum of phenotypes caused by variants in MYH3. A. E. Beck.
2959S Mutation of CLPB, a human homologue of bacterial ClpB /yeast Hsp104 mitochondrial molecular chaperone, causes a novel form of autosomal recessive 3-methylglutaconic aciduria. C. Saunders.
2975M Exome sequencing to identify the genetic bases for lysosomal storage diseases of unknown etiology. N. Wang.
2960M Leveraging Population Structure to Improve Causal Variant Identification in Exome Sequencing Studies of Mendelian Diseases. R. Brown. 2961T Truncating Mutation in CIB2 causes DFNB48 and not USH1J. K. T. Booth. 2962S A Perturbed Transcriptome Underlies Cornelia de Lange Syndrome and Related Phenotypes. B. Yuan. 2963M Deep re-sequencing of CFTR bearing the common F508del mutation reveals a rare variant associating with variation in lung infection. B. VecchioPagán. 2964T Whole Exome Sequencing in Autosomal Recessive Non-syndromic Deafness: 4 years` experience. G. Bademci. 2965S Resolving clinical diagnoses for syndromic cleft lip and palate phenotypes using whole-exome sequencing. A. Collins.
2976T Clinically significant copy number variants (CNVs) in a cohort of retinal dystrophy probands inferred from whole exome sequence data. G. Arno. 2977S Pathogenic mutation of coagulation factor X deficiency may prevent atypical hemolytic uremic syndrome. F. Bu. 2978M Genetic testing with targeted exon enrichment and massively parallel sequencing for 272 Chinese cases with hearing loss. J. Cheng. 2979T Prospecting genetic disorders in a highly inbred region of Brazil: two novel genes for AR intellectual deficiency. T. Figueiredo. 2980S Molecular Basis of Nieman-Pick A-B and Neimann-Pick C Diseases in the Aegean Region of Turkey: Identification of Three Novel Mutations in SMPD1 Gene. H. Onay. 2981M Frataxin, a Fredrich’s ataxia protein is defective in mitochondrial processing peptidase-alpha (PMPCA) mutations. P. B. Agrawal.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS
2952T Prevalence of EIF2AK4 gene mutations in patients with a clinical diagnosis of pulmonary arterial hypertension. K. L. Sumner.
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2982T Genetic diagnosis of mitochondrial disorders in Finland by whole-exome sequencing. C. J. Carroll. 2983S A comprehensive genomic analysis for mitochondrial respiratory chain disorder. M. Kohda. 2984M Diagnosing mitochondrial disease: Is there an added advantage of whole-exome sequencing? S. J. Mosca. 2985T Realignment of whole-genome and exome sequencing reads supports novel potassium channel (Kir2.x) isoforms that were formerly identified by Sanger sequencing as polymorphisms of a single channel gene in thyrotoxic periodic paralysis locus. M. R. Dias da Silva. 2986S Novel SLC29A3 mutation causing H Syndrome in an Indian Adolescent. N. Kamath. 2987M An intergenic 9.4 kb microduplication at chromosome 5p13 as a cause of brachydactyly type A1. L. Racacho. 2988T Novel molecular insights into severe congenital microcephaly through targeted next generation sequencing. G. Mirzaa. 2989S Molecular genetic characterization of an autosomal recessive Familial Essential Tremor. D. Monies. 2990M Denovo mutations in a novel disease causing gene cause Temple-Baraitser syndrome and nonsyndromic epilepsy. C. Simons. 2991T High diagnostic success rate in a cohort of unresolved leukoencephalopathy patients investigated by whole exome sequencing. R. J. Taft. 2992S Causal mutations and unique variants identified by exome analysis of Pakistani pedigrees with retinal degeneration. R. Ayyagari. 2993M Identifying the underlying cause of Retinal Degeneration by Exome Sequencing in seven unrelated pedigrees. P. Biswas. 2994T Trio-based exome sequencing approach to identify candidate genes for phenotypic variability of Incontinentia pigmenti. F. Fusco. 2995S NEMO Deficiency: Mutation in 5’ leader sequence of IKBKG causes adult onset mycobacterial skin disease. A. P. Hsu. 2996M Inherited UNC13D or PRF1 Mutations in patients with PTLD and severe HHV viremia after HSCT. H. Liu. 2997T Exome sequencing of a family with WiskotAldrich syndrome reveals a mutation in the WIPF1 gene. A. Hawwari.
2998S Erythroid Krüppel-like factor mutations are relatively more common in a thalassemia endemic region and ameliorate the clinical and hematological severity of -thalassemia. X. Xu. 2999M Homozygous loss of DIAPH1 causes a rare, complex syndrome with epilepsy, blindness, immune deficiency and lymphoma. M. Kaustio. 3000T Copy number variations in a cohort of Brazilian sickle cell anemia patients with and without cerebrovascular accident. P.RS. Cruz. 3001S HLA confer the risk of familial Mediterranean fever in Japanese population. M. Yasunami. 3002M A pathogenic haplotypes of the g6pd gene correlating with enzyme activity. D. Nantakomol. 3003T Defective Dimerization of STAT3 causes Autosomal Dominant Hyper-IgE Syndrome. M. Dasouki. 3004S WES detects disease causing SNVs and CNVs in Primary immunodeficiencies. H. S. Sorte. 3005M PGM3 Mutations Cause a Congenital Disorder of Glycosylation with Severe Immunodeficiency and Skeletal Dysplasia. A. Stray-Pedersen. 3006T IPEX and IPEX-like syndromes: FOXP3 and FOXP3-pathway related genes. M. Vignoli. 3007S Aicardi-Goutières syndrome is caused by IFIH1 mutations. H. Oda. 3008M The comprehensive genetic analysis of congenital anomalies of kidney and urinary tract (CAKUT) in Japan. N. Morisada. 3009T Deciphering Molecular Etiology of the MayerRokitansky-Küster-Hauser (MRKH) Syndrome. A. B. Ekici. 3010S Utility of whole exome sequencing in diagnosis of individuals with congenital anomalies of kidney and urinary tract. M. Bekheirnia. 3011M Focal segmental glomerulosclerosis exomes reveal candidate variants highly enriched in cell movement and cell adhesion related genes. J. Suh. 3012T The role of MAZ in the regulation of genitourinary development via modulation of WNT signaling. M. Haller. 3013S Functional Characterization of Renin Variants Identified in African Americans in Exome Sequencing Project. S. Kmoch. 3014M Detection of genes causing polycystic kidney in Saudi Arabian Fetuses and Neonates. M. H. Al-Hamed. 3015T Loss of Zeb2 Causes Glomerulocystic Kidney Disease in Mice. H. Milo Rasouly.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS 3016S Whole exome sequencing identifies a homozygous mutation in SOHLH1 in two sisters with non-syndromic hypergonadotropic hypogonadism. Y. Bayram.
3018T Hypopituitarism caused by dysregulation of pituitary progenitors and epithelial to mesenchymal transition. M.Ines. Perez Millan.
3031S Disruption of the basal body protein POC1B results in autosomal recessive cone-rod dystrophy. S. Roosing. 3032M TOPORS, a centrosomal and ciliary protein implicated in Retinitis Pigmentosa, associates with the actin cytoskeleton. A. Z. Shah. 3033T Loss of the ribosome-associated factor Sbds in murine models of Shwachman-Diamond syndrome leads to aberrant polysome profiles. H. Liu.
3019S Cell Specific Biochemical Changes in Snyder Robinson Syndrome. J. Albert.
3034S Examining the Molecular Mechanisms Underlying SRCAP Mutations in Floating-Harbor Syndrome. R. L. Hood.
3020M Genetic and enzymatic characterization of the anti-oxidant enzyme GPx1 in sickle cell disease patients. M. Beaudoin.
3035M Functional characterization and pharmacological correction of eleven novel mutations identified in Indian CF population. R. Prasad.
3021T Structural, molecular and cellular impact of the Ogden syndrome Ser37Pro mutant N-terminal acetyltransferase Naa10. G. J. Lyon.
3036T Understanding the role of EYS by identification and characterisation of its retinal interacting partners. P. M. Kruczek.
3022S Analyzing KMT2D/MLL2 missense mutations as causative in Kabuki syndrome and testing U1snRNAsbased approaches to revert KMT2D/MLL2 splicing defects. L. Micale.
3037S A pathologic genomic rearrangement in Incontinentia Pigmenti locus reveals a transcriptional regulation of NEMO gene by p63 family proteins. M. I. Conte.
3023M Infantile myofibromatosis: Gene discovery leads to novel treatment paradigm based on PDGFRB gain-of-function mutations. K. Oishi.
3038M Chinese family segregating isolated diffuse oesophageal leiomyomatosis: a new COL4A5/COL4A6 deletion and a case of gonosomal mosaicism. K. L. Wong.
3024T Biochemistry of UBA1 Mutations that Cause Infantile X-Linked Spinal Muscular Atrophy. C. D. Balak. 3025S Comparative proteomic analysis of different fragile X syndrome cell lines. S. Lanni.
3039T Atypical Microvillous Inclusion Disease (MVID) in a newborn with intractable diarrhea: clinical, pathological and molecular characterization. A. Iglesias.
3026M Utilization of Cas9/CRISPR to understand the genetic disease mechanism: dissecting the functions of NIPBL in the pathogenesis of Cornelia de Lange syndrome. K. Izumi.
3040S Mutations in ACTG2 are associated with sporadic congenital chronic intestinal pseudoobstruction and megacystis-microcolon-intestinal hypoperistalsis syndrome. M. Yourshaw.
3027T Incontinetia pigmenti: identification of IKBKG/ NEMO mutation revealing a novel mechanism of cell death acting as major triggering of the disease. A. Pescatore.
3041M Functional analysis of genes carrying de novo mutations in 24 sporadic Hirschsprung cases revealed 7 unexpected genes relevant to ENS development. R. Hofstra.
3028S The cblX gene, HCFC1, regulates craniofacial development by modulating MMACHC expression. T. H. Shaikh.
3042T Identification of a novel gene causing a recognizable and distinct autosomal recessive cerebellar ataxia and intellectual disability syndrome, associated with early onset cerebellar atrophy and relative macrocephaly. P. Stanier.
3029M Disruption of FMR1, RAI1, MBD5, and TCF4 results in abnormal expression of circadian rhythm genes and sleep disturbances in fragile X, SmithMagenis, 2q23.1 deletion, and Pitt-Hopkins syndromes. S. V. Mullegama. 3030T ITM2B implicated in familial dementias and retinal dystrophy associates with ciliary-centrosomal protein TOPORS. B. Czub.
3043S The role of SRSF10 in SMN1/2 splicing. S. Brøner. 3044M A functional role for BDNF in Familial Dysautonomia. M. Nilbratt. 3045T Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy in PorettiBoltshauser syndrome. K. A. Aldinger.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS
3017M IMAGe syndrome mutations in the PCNAbinding site of CDKN1C cause in increased protein stability and inhibition of the cell cycle. V. A. Arboleda.
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3046S Whole genome sequencing of a balanced translocation reveals new gene candidates for epilepsy, learning difficulties and risk of acute myeloid leukaemia. S.-K. Chung.
3061S Processing of double-R-loops (RNA:DNA hybrids) in (CAG)•(CTG) and C9orf72 (GGGGCC)•(GGCCCC) repeats causes instability. M. H. M. Schmidt.
3047M The complexity of KDM5C transcription: an XLID gene under the control of disease-related transcription factors. A. Padula.
3062M Glutathione-S-transferase gene polymorphisms (GSTM1,GSTT1, GSTM3 &GSTP1) and and its correlation with GST enzyme activity in DM1. A. Kumar.
3048T Genetics of Joubert syndrome in the French Canadian population. M. Srour.
3063T The whole genome sequences from a Rottweiler and Black Russian Terrier with overlapping neurological syndromes contain the same RAB3GAP1 frame shift mutation. T. Mhlanga-Mutangadura.
3049S Hereditary diffuse leukoencephalopathy with spheroids (HDLS): Novel CSF1R mutations and locus heterogeneity. C. Toro. 3050M A variant in DCTN2 causes intermediate Charcot-Marie-Tooth disease. A new Charcot-MarieTooth disease gene? G. J. Braathen. 3051T A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family. V. M. Rupp. 3052S Consulsive seizures and SUDEP in a mouse model of SCN8A epileptic encephalopathy. J. L. Wagnon.
3064S The missing factors influencing spinal and bulbar muscular atrophy: evaluation of genetic polymorphisms. C. Bertolin. 3065M Abnormalities in neuronal architecture and synaptic activity impairment in mice heterozygous for different deletions of the Williams-Beuren syndrome locus. C. Borralleras. 3066T A Homozygous PIGN Missense Mutation in Soft Coated Wheaten Terriers with Paroxysmal Dyskinesia. A. Kolicheski. 3067S Congenital hypotonia: Two rare diseases in one family. T. Falik-Zaccai.
3053M FAR1 loss of function impairs the reduction of fatty acids in individuals with intellectual disability. R. Abou Jamra.
3068M Identification of a novel autophagy-related gene mutation in a canine storage disease. K. Kyöstilä.
3054T Ten years apart: the second family with nonsyndromic autosomal recessive intellectual disability due to a CRBN gene mutation. B. Popp.
3069T Mutations in the neurofilament heavy chain gene (NEFH) trigger pathological aggregates in CharcotMarie-Tooth disease. A. Rebelo.
3055S De novo mutations in NALCN cause a new syndrome with congenital contractures, hypotonia, and early death. K. M. Shively.
3070S Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy. JM. Rozet.
3056M Application of array painting and next generation mate-pair sequencing (MPS) for improved mapping of chromosomal breakpoints in a familial translocation segregating with a particular phenotype. P. M. Kroisel. 3057T Deletion of the 5’ exons of the TCF4 gene in patients without classical Pitt-Hopkins syndrome. S. Yu. 3058S A genetic dosage study of DYT1 Dystonia using an inducible knock-in E-Tor1a mouse model. C. Weisheit. 3059M Whole exome sequencing identified the first STRADA point mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE). W. Bi. 3060T The expanding role for chromatin remodeling in epilepsy: Gene discovery to pathogenic mechanisms. G. L. Carvill.
3071M UBE3B Deficiency in Kaufman oculocerebrofacial syndrome. R. Yilmaz. 3072T Whole genome sequences from two individual dogs with neuronal ceroid lipofuscinosis contain novel truncating mutations: one in CLN8 and the other MFSD8. J. Guo. 3073S Mice with combined deficiencies of -Hexosaminidase A and Sialidase Neu3 mimic the fundamental aspects of the neurological abnormalities of Tay-Sachs disease due to accumulation of ganglioside: New hope for Tay-Sachs patients and families. V. Seyrantepe. 3074M Mutation of NUP50 in a consanguineous family with intellectual disability. JM. Capo-chichi. 3075T Phenotype of 21 novel autosomal recessive cognitive disorders. K. Kahrizi.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS 3076S An emerging role for the Rho-GEF Collybistin in neuropathological mTORC1-mediated protein translation. A. Sertie.
3078T Clinical and molecular characterization of progressive encephalopathies in children. J. R. Helle. 3079S Low levels of CHIP in fibroblasts derived from patients with autosomal recessive cerebellar ataxia caused by mutations in STUB1. S. Johansson. 3080M Truncating mutations in the negative feed-back regulator of interferon 1 signalling, USP18 gene causes pseudo-TORCH syndrome. G. M. S. Mancini. 3081T The Expanding Phenotype of TRPV4 Related Neuropathies With Notable Intrafamilial Variability. L. Medne.
3093T Digital gene expression differences in the OVT73 ovine model of Huntington’s Disease. S. J. Reid. 3094S De Novo mutations in TEAD1 and OCEL1 in non-X linked Aicardi Syndrome. I. Schrauwen. 3095M Absence of ER cation channel TMEM38B/ TRIC-B causes recessive osteogenesis imperfecta by dysregulation of collagen post-translational modification. W. A. Cabral. 3096T Exome sequencing identifies locus heterogeneity in multiple epiphyseal dysplasia. K. Balasubramanian. 3097S Genetic evaluation of inherited arthropathies. G.SL. Bhavani. 3098M XYLT1 mutations impact on cellular proteoglycan biosynthesis leading to Desbuquois dysplasia type 2. C. Huber. 3099T LOX, among the LOX family proteins, plays a key role in osteoblast differentiation. Y. Kim.
3082S WWOX and severe early onset epileptic encephalopathies: description of two additional patients and new clinical insights. C. Philippe.
3100S Identification of mutations in patients with osteogenesis imperfecta from Russia. D. D. Nadyrshina.
3083M Mechanisms leading to brain malformations in tubulinopathies. M. I. Rees.
3101M Two Distinct Mutations in IFITM5 Causing Different Forms of Osteogenesis Imperfecta Using Reciprocal Mechanisms. A. Reich.
3084T A novel pathogenic mechanism in Hereditary Spastic Paraplegia. R. Schüle. 3085S DNM3; a genetic modifier of LRRK2 parkinsonism. J. Trinh. 3086M Novel de novo sequence variation in HNRNPU gene is associated with generalized epilepsy responsive to ketogenic diet. R. Veith. 3087T Modifiers of age at onset in spinocerebellar ataxia type 2: a preliminary study in a Brazilian population. F.dosS. Pereira. 3088S Defining the presence of GTF2IRD1 in epigenetic complexes as a means to understand features of Williams-Beuren syndrome. P. CarmonaMora. 3089M Generation of a comprehensive panel of patient-derived pluripotent stem cells to dissect oligodendrocyte dysfunction in the pediatric myelin disorder Pelizaeus-Merzbacher Disease. Z. Nevin. 3090T The NINDS Repository collection of patientderived fibroblasts and induced pluripotent stem cells for neurodegenerative disease research. C. A. Pérez. 3091S Human iPSC model of the Ras/MAPK pathway role in neurodevelopmental disorders. E. Yeh. 3092M New insights into the biological role of VAX2 in human, in health and disease. G. Alfano.
3102T Identification and Genetic Characterization of a Mysterious Crippling Disorder of Arai Village, J&K, India. S. Sharma. 3103S Novel mutation in RUNX2/CBF-alpha-1 with alanine tract expansion from Japanese cleidocranial dysplasia patient. A. Shibata. 3104M Rapid Turnover Skeletal Disease Caused By A Multiple-Exon Duplication of TNFRSF11A Encoding RANK. S. Mumm. 3105T Asynchronous remodelling is a driver of failed regeneration in Duchenne Muscular Dystrophy. S. Dadgar. 3106S Novel mutations in GNAI3 associated with Auriculocondylar Syndrome strengthen a common dominant negative effect. V. L. R. Tavares. 3107M Mouse Model with Mutant Type I Collagen C-propeptide Cleavage Site has Brittle Bones and Increased Osteoblast Mineralization. A. M. Barnes. 3108T Spliceosomopathies: an emerging link between the spliceosome and disorders of craniofacial and skeletal development. D. C. Lynch. 3109S Novel COL1A2 Gene Mutation in Czech Osteogenesis Imperfecta Patient: Case report. S. Mazurova.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS
3077M De novo dominant mutations in the kinesin motor protein KIF1A cause a severe static or progressive encephalopathy with cerebral and cerebellar atrophy. S. Esmaeeli Nieh.
187
188
POSTER SESSIONS
3110M Expending the phenotypic spectrum of PDE4D and PRKAR1A mutations : from acrodysostosis to acroscyphodysplasia. C. Michot.
3126T British Ectopia Lentis (EL) patients with novel ADAMTSL4 mutations: 2 homozygotes, 1 compound heterozygote and 1 compound heterozygote involving a splice site. J. A. Aragon-Martin.
3111T Transcriptional Dysregulation Associated with Somatic Neurofibromin Deficiency in Tibial Pseudoarthrosis with Neurofibromatosis Type 1. J. J. Rios.
3127S Xeroderma Pigmentosum diagnosed in adulthood; atypical clinical presentation associated with a novel genetic defect in XPC gene. C. Badenas.
3112S Compound heterozygosity for a frameshift mutation and an upstream deletion that reduces expression of SERPINH1 in siblings with a moderate form of osteogenesis imperfecta. U. Schwarze.
3128M Mutation spectrum of the ABCA4 Gene in Greek patients with Stargardt disease: Identification of two novel mutations and evidence of three prevalent mutated alleles. S. Kamakari.
3113M Rare TBX6 null mutations in congenital scoliosis. N. Wu.
Development
3114T Alteration of conserved alternative splicing in AMELX causes enamel defects. J. Kim.
3129S nlz1 is required for cilia formation in zebrafish embryogenesis. S. Dutta.
3115S Loss of function mutations reveal that DGAT1 is essential for gastrointestinal homoeostasis, lipid absorption and triglyceride deposition in humans and cows, but not rodents. K. Lehnert.
3130S A primary ciliopathy protein plays an extraciliary role in neurodevelopmental disease. N. Nuangchamnong.
3116M Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome. M. Alders. 3117T Novel variant of TNNI2 causes an atypical Distal Arthrogryposis syndrome. C. T. Marvin. 3118S MTHFR and CBS: A risk factor for Down syndrome. A. kaur. 3119M Investigation of a missense in NOTCH4 in autosomal dominant scleroderma. C. J. Cardinale. 3120T Molecular Spectrum of Mutations in CFTR gene: First Report from the Aegean region of Turkey and definition of three novel mutations. A. Aykut. 3121S Molecular Analysis of Dystrophic Epidermolysis Bullosa in Iran. H. Vahidnezhad. 3122M Genome-wide association meta-analysis of 6,365 subjects replicate EHF-APIP and identifies new modifier loci of lung disease severity in Cystic Fibrosis. H. Corvol. 3123T A Homozygous NIPAL4 Mutation In A Case With Ichthyosis And Deafness. E. Arslan Ates. 3124S The ALK1 IVS3-35A>G polymorphism is associated with arteriovenous malformations in hereditary hemorrhagic telangiectasia patients with ENG mutations, but not in patients with ALK1 mutations. L. Pawlikowska. 3125M Neutral Lipid Storage Disease with Myopathy: disease modeling using patients’ hiPSc. D. A. Coviello.
3131S Congenital heart disease associated to PCD. J. Wallmeier. 3132S PKHD1 mutations are associated with the whole spectrum of ductal plate malformations. J. B. Courcet. 3133S Stem Cells from Offspring of Mothers Demonstrate Evidence for Developmental Programming in Obesity. P. R. Baker. 3134S Aberrant activation of the sex-determining gene in early embryonic development results in postnatal growth retardation and lethality in transgenic mice. T. Kido. 3135S Autophagy retards inflammatory mRNA decay and elicits a white phenotype during adipocyte maturation. J. Shan. 3136S RNA-Seq to identify novel markers for neural tissue differentiation. Y. Sun. 3137S A conserved role for IRF6 in neurulation. Y. A. Kousa. 3138S Analysis of CAPZB function in cleft pathogenesis and lower jaw extension. K. Mukherjee. 3139S A novel transcriptional regulatory pathway in cardiac and skeletal muscle. J. Bharj. 3140S The Role of RERE in Cardiovascular Development. H. P. Zaveri. 3141S Characterization of a knock-in mouse model expressing the Stormorken syndrome mutation. T. H. Gamage.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS
189
3158T Chromosome aberrations in a mexican pediatric hospital. Ring chromosomes 4, 13 and 18. l. HurtadoHernadez.
3143S An animal model to investigate genetic variants in patients with 46,XY Disorders of Sex Development. H. Barseghyan.
3159T Use of MLPA of buccal smear for Pallister-Killian diagnosis. L. S. A. Costa.
3144S An Allelic Series Reveals Novel Roles of Fgf Ligands in Skeletogenesis. I. H. Hung.
3160T Cytogenetic characterization of 2 patients with supernumerary marker chromosomes (sSMCs) derived from complex genetic rearrangements. A. L. Penton.
3145S Phenotypic and functional characterization of Bst+/- mouse retina. G. Sun.
3161T Double translocations in individuals and multiple family members. D. H. Zaleski.
3146S Osteoblast development is driven by transacting regulations. K. Choi.
3162T Reversing differences in chromatin accessibility that distinguish homologous mitotic metaphase chromosomes. W. A. Khan.
3147S The Role of SOX7 and SOX17 in Cardiovascular Development. A. Hernandez-Garcia. 3148S Unraveling the genetic architecture of anencephaly: Identification and analysis of coding variants in Cecr2 and candidate modifier genes of Cecr2 in mice and humans. R. Y. M. Leduc. 3149S Rapid identification of kidney cyst mutations by whole exome sequencing in zebrafish. J. R. Willer. 3150S A Tgds mutation in a novel mouse model of Pierre-Robin sequence-type clefting. B. C. Bjork. 3151S The transcriptional co-regulator Jab1 is required for skeletogenesis. G. Zhou. 3152S SPECC1L modulation of adherens junctions and PI3K-AKT signaling is required for collective cell migration in facial morphogenesis. N. Wilson. 3153S Retinoic acid induced-1 (Rai1) regulates craniofacial and brain development in Xenopus. R. Tahir. 3154S The chromosome 3p22.3 region is a potential novel locus for complex heart disease, anorectal malformation and intellectual disability. G. Akler. 3155S The sex-determining factor SRY is involved in numerous early events of testis differentiation including testis cord formation. Y. Lau. 3156S New insights in holoprosencephaly inheritance : Exome sequencing in families reveals new double-hit and recessive cases. C. Mouden.
3163T Longitudinal shortening in telomere length as a biomarker for demenetia status of adults with Down syndrome. E. C. Jenkins. 3164T The role of copy number variation in nonsyndromic cleft lip and palate. L. A. Harney. 3165T Characterization of a fusion gene involving the leptin gene generated by a de novo 7q32.1 duplication associated with severe anorexia. J. Lévy. 3166T Automated Dicentric Chromosome Identification by Machine Learning-Based Image Processing. P. K. Rogan. 3167T Detectable mosaic 13q14 deletions in nonhematologic cancers and healthy controls. M. Yeager. 3168T Microdeletions and Microduplications in Brazilian Children with intellectual disability from a public health service. A. D. da Cruz. 3169T First case of homozygous deletion in the ABAT gene leading to GABA-T deficiency and severe neonatal neurologic disease. A. Mosca-Boidron. 3170T Manifestations of Xp22.2-22.13 and Xp21.3 microduplications. M. Goto. 3171T Comparison of de novo and inherited copy number variants of unknown clinical significance. L. Matyakhina. 3172T Whole Genome Characterization of Copy Number Variation Regions in 2000 Phenotypically Normal Individuals. A. Roter.
3157S Whole Exome Sequencing (WES) to Analyze the Genetic Basis of Non Syndromic Cleft Lip and Palate. M. Basha.
3173T Familial transmission of 5p13.2 duplication due to maternal der(X)ins(X;5). L. C. Walters-Sen.
Cytogenetics
3174T Submicroscopic chromosomal imbalances in patients with intrauterine growth retardation and features of Silver-Russell syndrome. A. Bonaldi. 3175T Multiple homozygosity regions in a girl with unexplained intellectual disability. C. C. da Silva.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS
3142S Haploinsufficiency of RERE contributes to the development of cleft palate in 1p36 deletion syndrome. B. Kim.
190
POSTER SESSIONS
3176T Mate-pair sequencing analysis of karyotypically balanced chromosomal rearrangements associated with cryptic imbalances reveals additional structural variants and complex genomic reorganization typical of chromothripsis or replication mechanisms. A. C. S. Fonseca. 3177T Novel H3K4me3 marks are enriched at humanand chimpanzee-specific cytogenetic structures. G. Giannuzzi. 3178T Detection of copy number variation in single cells by next generation sequencing. F. Kaper. 3179T Mosaicism in a Mosaic: Reduced capacity of female X chromosomes to resist age-related structural erosion. M. J. Machiela. 3180T Array-based analysis reveals partial 11q14 duplication in a familial case with intellectual disability, short stature and mild dysmorphic features. R. Satomi. 3181T 15q11.2 duplication encompassing only the UBE3A gene is associated with developmental delay and neuro-psychiatric phenotypes. A. Noor. 3182T A duplication of the CDKL5 gene identified in a boy with developmental delay with autistic behavior, short stature and microcephaly. K. Takano. 3183T Apparent fetal developmental correction of partial monosomy 4 secondary to possible inheritance of a single translocation derivative. V. Potluri. 3184T Complex mosaic chromosome rearrangement in a patient with Phelan-McDermid Syndrome. C. Purmann. 3185T CMIP, a Strong Candidate Gene Involved in the Autism Spectrum Disorder. M. Luo. 3186T Cytogenetic studies of the drug Methotrexate ( MTX) on the blood lymphocytes of colon cancer patients. Z.MT Jaafar. 3187T Molecular cytogenetic characterization of a patient diagnosed with dimorphic anemia carrying de novo rare ring chromosome 7 along with t(7;9). S. K. Bhattacharya. 3188T Reciprocal microdeletions and microduplications of CNTN6 gene (3p26.3) in patients with intellectual disability. I. Lebedev. 3189T Co-occurrence of non-mosaic trisomy 22 and inherited balanced t(4;6)(q33;q23.3) in a live-born female: Case report and review of the literature. J. Liu. 3190T Identification And Characterization Of Marker Chromosome In a Patient with Turner’s Syndrome. s. sharma.
3191T Cytogenetic Abnormalities in Products of Conception; Analysis and Review of NSUH series of cases. J. Paul. 3192T Haploid-insufficiency and triploid-insensitivity of the same 6p25.1p24.3 region in a family. Z. Qi. 3193T A (2;12)(p12;p13) translocation in a Down Syndrome patient with B-ALL. Y. Kim. 3194T An uncommon coincidation of multiple myeloma and myelodysplastic syndrome. S. Berker Karauzum. 3195T An easy cIg-FISH Protocol For Multiple Myeloma which can be incorporated as Routine Cytogenetic Laboratory Practice. L. Gole. 3196T Homozygous Deletion of TEL (ETV6) in Childhood Acute Lymphoblastic Leukemia (ALL): Prognostic Implications. G. Velagaleti. 3197T A maternally inherited 697.4 kb SOX3 duplication in a female fetus with neural tube defects. N. Cohen. 3198T Phenotype/genotype effect of 14q32.3 terminal deletion and 9p duplication. S.Ghareeb. Abd Allah. 3199T Two new cases of chromosome 7p22.1 microduplication detected by array CGH. R. G. Hutchinson. 3200T Partial Microduplication of PTEN in a girl with multiple congenital abnormalities including agenesis corpus callosum. C. P. Oliveira. 3201T Is it time to retire the standard 15colonies/20 cell chromosome analysis if chromosome microarray analysis (CMA) is concurrently ordered in prenatal testing? A. Patel. 3202T Pigmentary mosaicism with 45,X and an extra marker containing the Xp11.22-p11.23 region. P. PérezVera. 3203T The identification of ring 13 chromosome and breakpoint region at a Brazilian child requires karyotype, FISH and microarray analysis. I. P. Pinto. 3204T Proximal 3p deletions: phenotypic characterization and molecular delineation. I. Song. 3205T A novel familial gain of 3q25.2-3q25.31 involving OMIM genes SLC33A1, GMPS, and MME. K. Swisshelm. 3206T Position effects modify gene expression in a ring chromosome 14? R. S. Guilherme. 3207T Partial trisomy 17q and partial monosomy 20q in a boy with craniosynostosis. F. A. Marques. 3208T Meiotic I error in a Thai girl with tetrasomy 9p syndrome identified by SNP microarray. C. Charalsawadi.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS
191
Cancer Genetics
3210T A de novo microduplication at 7q11.23 from Central Brazil detected by Chromosomal Microarray Analysis. L. B. Minasi.
3224S Targeted RNA sequencing of breast cancer genes using a genomic capture approach: cBROCA. S. Casadei.
3211T The 9p trisomy due to maternal t(9;22) in four patients suggesting a palindorm mediated mechanism involving chromosome 9q12. A. Mohamed.
3225M The 12p13.33/RAD52 and 13q13.1/BRCA2 loci and genetic susceptibility to squamous cell cancers of upper aerodigestive tract. M. Delahaye-Sourdeix.
3212T An Investigation of Pediatricians’ Use of Microarray. N. A. Watkins.
3226T FOXA1 binding sites are predictive of breast cancer risk. M. Ghoussaini.
3213T Clinical and molecular cytogenetic characterisation of Williams syndrome. B. Kar.
3227S Identification of Large Intergenic Non-coding genes as Candidate Targets for Prostate Cancer riskSNPs Utilizing a Normal Prostate Tissue eQTL Dataset. Y. Zhang.
3214T Target-specific synthetic oligonucleotide libraries for use in Fluorescent In Situ Hybridization. K. C. Semrau. 3215T Mapping breakpoints of a familial chromosome insertion (18:7) (q22.1; q36.2q21.11) to DPP6 and CACNA2D1 genes in an azoospermic male. W. Fan. 3216T Refining 16p11.2 microdeletion region for Intellectual Disability/Developmental Delay (ID/DD). P. S. Lai. 3217T A Five Year Retrospective Analysis of the Utility of Family Segregation Analysis in the Evaluation of the Clinical Significance of Variants of Uncertain Significance Detected by Chromosomal Microarray: The Greenwood Genetic Center Experience. F. Bartel. 3218T Interstitial duplications of 19p13.3. H. Risheg. 3219T Prenatal Chromosome Rearrangements and Markers: Normal SNP Microarray Analysis Associated with Favorable Pregnancy Outcome. J. H. Tepperberg. 3220T Validation of an Ion AmpliSeq™ RNA Lung Fusion Panel, workflow, and analysis solution: an OncoNetwork collaborative research study. J. G. Cienfuegos. 3221T Variation in the Zinc Finger Binding Domain of PRDM9 is Associated with the Absence of Recombination on 21q. T. Oliver. 3222T Importance of cytogenetic and molecular characterization of patients with pigmentary mosaicism. C. Salas-Labadia 3223T Chromosome Therapy: Correction of Large Chromosomal Aberrations by Inducing Ring Chromosomes in Induced Pluripotent Stem Cells (iPSCs). T. Kim.
3228M BRCA1 and BRCA2 mutational screening in 223 hereditary breast cancer patients in Chile: genotypephenotype correlations. C. Alvarez. 3229T Identification of new familial breast cancer susceptibility genes: are we there yet? I. Campbell. 3230S Significant evidence for linkage of cutaneous malignant melanoma to 1q41. L. A. Cannon-Albright. 3231M Expression and insertion of MMTV/HMTV env gene sequences in human breast cancer. A. CedroTanda. 3232T Association of P2RX7 gene polymorphisms and cervical squamous cell carcinoma risk. T. Chang. 3233S Functional Variants at The 21q22.3 Locus Involved in Breast Cancer Progression Identified by Screening of Genome-Wide Estrogen Response Elements. H. Chu. 3234M Post-GWAS functional characterization of the 12p11.23 renal cancer susceptibility locus. L. M. Colli. 3235T Targeted Gene Sequencing in Familial Colorectal Cancer Type X. J. Cunningham. 3236S SF3B1 mutations in different cancer types cause recognition of sterically hindered cryptic splice-sites downstream of the branch point. C. DeBoever. 3237M Targeted Germline Sequencing of Young Onset, Proficient Mismatch Repair Colorectal Cancer Genes. M. S. DeRycke. 3238T Characterization of OLFML3 mutations in nonsmall cell lung cancer. C. Drennan. 3239S Hox pattern expression and non coding transcripts in the HOX locus are associated with adult medulloblastoma subtype. A. M. Fontes. 3240M Associations between UGT1A polymorphisms and haplotypes and lung cancer risk. C. J. Gallagher.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS
3209T A case of probable constitutional trisomy 3 mosaicism. M. Kekis.
192
POSTER SESSIONS
3241T Ptprj-interacting susceptibility genes for colorectal cancer. M. Gerber. 3242S Hereditary Acute Myelogenous Leukemia (AML) in a Druze family. Y. Hadid. 3243M A Novel Risk Variant at the 8q24 Cancer Susceptibility Locus in Men of African Ancestry. Y. Han. 3244T Molecular characterization of oncogenic properties of S100A4 in pancreatic and lung cancers and identification and characterization of candidate downstream genes. A. Horii.
3258M Identification of familial Wilms tumor predisposition genes using whole genome sequencing. T. B. Palculict. 3259T The FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping and is a risk factor for familial breast cancer. P. Peterlongo. 3260S The CDH1 gene as a susceptibility locus for lobular breast carcinoma. C. Petridis. 3261M Melanoma Profiler Web Tool for Integrative Genomic Analysis of Melanoma. K. Qaadri.
3245S Estrogen Receptor Gene Polymorphisms and Lung Adenocarcinoma Risk in Never-smoking Women. CF. Hsiao.
3262T Development of a Next Generation Sequencing Panel for Clinical Diagnostic Analysis of Breast and Ovarian Cancer. C. Rapp.
3246M PALB2 mutations among unselected pancreatic cancer patients in the Czech Republic. M. Janatova.
3263S ABRAXAS (FAM175A) and breast cancer susceptibility: no evidence of association in the Breast Cancer Family Registry. A. Renault.
3247T Next-generation panel based characterisation of breast/ovarian cancer genetic predisposition. R. Janavicius. 3248S Identification of germline mutations in hereditary prostate cancer families satisfying clinical testing criteria for hereditary breast and ovarian cancer. A. M. Johnson. 3249M Fine-mapping of 67 prostate cancer GWAS regions identifies better and multiple association signals. Z. Kote-Jarai. 3250T Localization and Expression Level of p16 Correlate with Patient’s Survival and Human Papilloma Virus Status in Oropharyngeal Squamous Cell Carcinoma. S. Lai.
3264M Association between rare and common variants in DNA repair genes and prostate cancer using the iCOGS genotyping array. E. Saunders. 3265T Frequency of novel and known deleterious germline variants in rhabdomyosarcoma and neuroblastoma by next-generation sequencing. D. R. Stewart. 3266S A recurrent germline mutation in the splicing factor SRRM2 gene is implicated in papillary thyroid cancer predisposition. J. Tomsic. 3267M BCL7B functions as a tumor suppressor in the Wnt signaling pathway. T. Uehara.
3251S HOXB13 G84E germline mutation and prostate cancer risk in the UK. D. A. Leongamornlert.
3268T Investigating the genetic basis of multiple primary tumors. Clinical and gene panel analyses. J. Whitworth.
3252M Identification of hereditary alterations predisposing to breast cancer using Next-Gen Sequencing. F. Lhota.
3269S Characterization of T gene sequence variants and germline duplications in familial and sporadic chordoma. R. X. Yang.
3253T Germline copy number variant analysis as a mechanism to identify novel high-risk endometrial cancer gene mutations. F. Lose.
3270M Exome sequencing identified potential causative candidate genes for hyperplastic polyposis syndrome. S. Aretz.
3254S Fine-scale mapping of the 12q24 breast cancer susceptibility locus. K. Michailidou.
3271T Identification of the frequent hereditary cancer mutations in high-risk non-BRCA breast cancer patients from Puerto Rico. J. Dutil.
3255M Germline mutational analysis in Mexican patients with Lynch Syndrome. J. M. Moreno-Ortiz. 3256T Deep intronic sequencing of mutation-negative Lynch Syndrom patients. A. M. Nissen. 3257S Ephrin Receptor Genotypes Modify Chemotherapy-Induced Peripheral Neuropathy Symptoms: A Candidate Gene Study in Breast Cancer Patients. K. N. H. Nudelman.
3272S Deleterious mutations in multiple cancer-risk genes in individuals from a high-risk cancer genetics clinic. C. M. Laukaitis. 3273M Whole exome sequencing to identify novel breast cancer susceptibility genes. K. N. Maxwell. 3274T Germline epigenetic inactivation of BAP1 in a subset of patients with uveal melanoma. R. Pilarski.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS
3276M Causative novel POLE mutations in hereditary colorectal cancer syndromes. A. M. Rohlin. 3277T Parental Inheritance and WT1 Abnormality Types May Affect the Penetrance Rate of Hereditary Wilms Tumor. Y. Kaneko. 3278S Functional characterization of the 19p13 breast and ovarian cancer risk locus identifies ABHD8 as a novel candidate breast-ovarian cancer susceptibility gene. J. Beesley. 3279M Identification of germline mutations in TEP1 among familial and sporadic pediatric acute myelogenous leukemia cohorts. N. R. Oak. 3280T Hdac9 Intronic Enhancer Variants as Candidates for Skin Cancer Risk. A. Toland. 3281S Allelic imbalance in gene expression as a mechanism in breast cancer development. I. Pulyakhina. 3282M Germline Mutations in Men with Multiple Primary Malignancies from a Hereditary Prostate Cancer Cohort. P. G. Pilie. 3283T Genetic analysis of the chromosome 15q25.1 region identifies IREB2 variants associated with lung cancer. C. Amos. 3284S Genome-wide analyses identify gene interaction between SMAD7 and body mass index with risk of colorectal cancer. P. T. Campbell. 3285M Estimation of Whole Genome Variations of Hepatocellular Carcinoma among Chronic Hepatitis C Patients. Y. Chang. 3286T Functional characterization of PARP1 melanoma-associated locus. J. Choi. 3287S Heritable missense variant rs3731249 underlies the CDKN2A association with childhood ALL and is preferentially retained by tumors harboring somatic CDKN2A loss. A. J. de Smith. 3288M Leveraging Sequence and Phenotype-Specific Information to Design Custom Genotyping Arrays: Example from Prostate Cancer. N. Emami. 3289T Genome-wide scan identifies variants in 2q12.3 and 9q22.33 associated with risk of multiple myeloma. S. W. Erickson. 3290S Genetic determinants of Breslow tumor thickness and their impact on melanoma progression. S. Fang.
3291M Association of 2R3R polymorphism of the Thymidylate synthase gene with toxicity in breast cancer patients treated with FEC chemotherapy. M. P. Gallegos-Arreola. 3292T Regulatory polymorphisms in lymphoma and chronic lymphocytic leukemia risk. J. Hayes. 3293S Role of polymorphic fibroblast growth factor receptor (FGFR) Gene and Breast Cancer Risk. M. Hosseini. 3294M GWAS meta-analysis identifies three novel risk loci for melanoma at 6p22, 7q21 and 9q31. M. H. Law. 3295T Detection of trans and cis splicing QTLs through large scale cancer genome analysis. K. Lehmann. 3296S Genome-wide association study of breast cancer in Japanese population. S. Low. 3297M New insights into ovarian cancer from the investigation of overall genetic sharing. Y. Lu. 3298T Exploring the Role of Regulatory Variation in Linkage Disequilibrium with Cancer Risk SNPs. D. S. Park. 3299S Association of 2R3R polymorphism of the Thymidylate synthase gene with in breast cancer advanced stage patients. A. M. Puebla-Pérez. 3300M Differences of nitric oxide level in Mexican breast cancer patients. R. Ramírez-Patiño. 3301T Admixture scan of breast cancer in U.S. black women: the AMBER consortium. E. A. Ruiz-Narvaez. 3302S Estimation of de novo mutation rates in the offspring of Lynch syndrome families. S. Shankaracharya. 3303M Excess Prevalence of Gastric Cancer Family History Among Hispanic Breast Cancer Patients. I. Solomon. 3304T Association of polymorphism in GSTM1 null with obesity in breast cancer patients triple negative. O. Soto-Quintana. 3305S Genetic Variants related to presence of Bladder Cancer in a high risk, arsenic-exposed population in Northern Chile (Antofagasta). C. Vial. 3306M Heterogeneous DNA methylation contributes to tumorigenesis by inducing the loss of co-expression connectivity in colorectal cancer. Q. Wang. 3307T Pathways associated with susceptibility of nasopharyngeal carcinoma (NPC) identified by wholeexome sequencing in Taiwanese NPC families. G. Yu. 3308S Female Reproductive Traits and Lifespan in BRCA Families. W. Zhuang.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS
3275S Integrating Whole Genome and Exome Sequencing with Structural Variation Analysis to Identify Potential Causative Mutations in Patients with Cancer Phenotypes Suggestive of Li-Fraumeni Syndrome. D. I. Ritter.
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3309M Assessing the Cumulative Contribution of New and Established Common Genetic Risk Factors to Early-Onset Prostate Cancer. K. A. Zuhlke. 3310T Determination of cancer susceptibility in earlyonset colorectal cancer (CRC) patients. K. A. Schrader. 3311S Hispanic MMR Mutations: A Multi-Institutional Report from Southwestern United States and Puerto Rico. A. Sunga. 3312M Pleitropy between Hodgkin lymphoma and other immunological diseases. W. Cozen. 3313T Prospectively Identified Incident Testicular Cancer Risk in a Familial Testicular Cancer Cohort. A. Pathak. 3314S The significance of N-acetyltransferase 2 (NAT2) genotypes in combination with phenotypes to risk of bladder cancer in a Chinese population. K. Chattopadhyay. 3315M DEPTH: A Novel Algorithm for Feature Ranking with Application to Genome-Wide Association Studies Identifies that Variation in the ESR1 Gene Region is Associated with Risk of Estrogen Receptor Negative Breast Cancer from a Small Study. E. Makalic. 3316T DEPTH: A Novel Algorithm for Feature Ranking with Application to Genome-Wide Association Studies Identifies that Variation in the CHEK2 Gene Region is Associated with Risk of Breast and Colorectal Cancer. D. F. Schmidt. 3317S Integrated pathway and gene-gene interaction analysis reveals novel candidate genes for melanoma. M. Brossard. 3318M Combined pathway and gene-gene interaction analysis pinpoints biologically relevant genes for a major melanoma prognosis factor. A. Vaysse. 3319T A Population-based survey of excess cancers observed in NF1 cases and in their first- and seconddegree relatives. D. Abbott. 3320S Identification of somatic structural events associated with L1 element activity in 208 colorectal cancers using whole genome sequence analysis. T. Cajuso. 3321M Duplication of 7p21.3-p14.3: metastasis risk, cancer susceptibilities and ethical implications. M. R. S. Carvalho.
3324M Chromosomal Mosaicism in Patients with Familial Chronic Lymphocytic Leukemia. L. R. Goldin. 3325T Comprehensive discovery of structural variation in Multiple Myeloma via single molecules. A. Gupta. 3326S A meta-analysis of somatic copy number alterations in Hepatocellular Carcinoma. K. Hao. 3327M A t(1;19) translocation involving TCF3/PBX1 fusion within a context of a hyperdiploid karyotype in adult B-ALL. B. J. Lasky. 3328T Promoter-specific alterations of apc are a rare cause for mutation-negative familial adenomatous polyposis. T. T. Nieminen. 3329S Comparison of CNV detection from wholeexome sequencing and microarray platforms using matched tumor-normal samples from TCGA. A. O’Hara. 3330M A New Method for High Fidelity Copy Number Analysis in Solid Tumor Samples and its implementation in the OncoScan™ FFPE Assay Kit. J. Schmidt. 3331T The dilution dilemma; a method to accurately estimate tumor fractions in complex tumor/normal DNA dilutions. Z. M. Weber. 3332S Age-related mosaic loss of chromosome Y is associated with cancer in cohort studies. W. Zhou. 3333M The actual impact of Fluorescence in Situ Hybridization (FISH) in the diagnosis and follow up of Acute Lymphoblastic Leukemia (ALL). H. Akin. 3334T System for high throughput Identification of breast and ovarian cancer associated chromosomal abnormality. Y. W. Chang. 3335S Unique Recurrent Cytogenetic Aberrations Distinguish Between Molecular Subtypes of DLBCL and Burkitt Lymphoma: An Analysis of Unsupervised Clusters and Logistic Regression Based Models. R. Garcia. 3336M A rare transformation case report: from Chronic Lymphocytic Leukemia to Multiple Myeloma. C. Hangul. 3337T Specific Gene Expression Profiles of Diffuse Large B-cell lymphoma and Burkitt Lymphoma Identified a Set of Enriched Genes that Positively Correlates with Cytogenetics Data. P. Koduru.
3322T A copy number variation genome-wide association study identifies two new cervical cancer susceptibility loci at NEDD4L and CTDSPL. D. Chen.
3338S The Clinical Utility of CpG-Oligodeoxynucleotide Stimulation in Chromosomal Analysis for patients with Chronic Lymphocytic Leukemia (CLL) and a possible secondary Myeloid Neoplasm. C. A. Marcou.
3323S Comprehensive genetic analysis of cell-free circulating nucleic acids through next-generation sequencing. J. Fan.
3339M Chromosomal Aberrations associated with methylation in ependymomas in Mexican pediatric patients. M. Pérez Ramírez.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS
195
3356S The Activation of LINE-1 Retrotransposition in Barrett’s Esophagus and Esophageal Carcinoma. T. T. Doucet.
3341S Conventional Cytogenetic and Molecular Genetic Analysis of Pancreatic Cancer. D. Shabsovich.
3357M A big family of adenomatous polyposis with different extraintestinal manifestations. M. Duz.
3342M The ZNF384 gene in pediatric acute lymphoblastic leukemia - multiple partner genes, immature (CD10 negative) immunophenotype, and potential good outcome. M. Shago.
3358T Exomic and transcriptomic patterns of colitisassociated carcinoma. D. Esser.
3343T A complex karyotype with a cryptic t(11;14) (q13;q32) in a Blastoid Crisis of Mantle Cell Lymphoma. C. A. Tirado. 3344S Identification of Semi-Cryptic and Variant Translocation Partners of RUNX1 gene in Acute Myeloid Leukemia (AML). A. Yenamandra. 3345M Somatic gene fusions in human cancer revealed by whole exome sequencing. L. Yang. 3346T A Personalized Genomic Signature of Lung to Brain Metastasis. J. M. Furgason. 3347S RAS driver mutations are present in 36% of acute lymphoblastic leukaemia cases in children with Down syndrome and are mutually exclusive with JAK2 mutations. D. Nizetic. 3348M Integrated analysis of transcriptome and exome in cancer samples improves interpretation and reveals additional therapeutic insights. S. M. Boyle. 3349T Deep targeted sequencing for accurate identification of low frequency somatic variation in cancer. D. Burgess. 3350S Exome sequencing identifies novel cancerpredisposing genes in familial thyroid cancer. A. Chaudhuri. 3351M Dysregulation of TGFB pathway in the formation of chordoma. W. Chen.
3359S Analysis of metastatic diffuse gastric cancer genomes in a Mendelian family with an inherited CDH1 mutation. S. Greer. 3360M The mutational landscape of peritoneal malignant mesothelioma. O. Harismendy. 3361T The Landscape of Inherited and Somatic Mutations in Fallopian Tube Carcinoma. M. I. Harrell. 3362S A rare somatic mutation in the TEL patch of telomere protein TPP1 acts as a driver of childhood acute lymphoblastic leukemia. J. Healy. 3363M Mutational spectrum of RET Proto-oncogene in Iranian Patients with Medullary Thyroid Carcinoma. M. Hedayati. 3364T Analysis of RNA-Sequencing Data Reveals Association of JAK-STAT Pathway with NK/T-Cell Lymphoma. JH. Hwang. 3365S Exome sequencing reveals novel mutation hotspots in microsatellite unstable colorectal cancer. U. A. Hänninen. 3366M Detection of mutation hotspots through mutation set enrichment analysis. P. Jia. 3367T Advanced qualification and quantification of amplifiable genomic DNA (gDNA) for PCR-based targeted enrichment prior to next-generation sequencing. Q. Jiang. 3368S Genetic Alterations and Evolutionary Behavior in Liver Metastatic Colorectal Cancer. B. Lim.
3352T Whole Exome Sequencing study of HPV-Positive and HPV-Negative Oropharyngeal Squamous Cell Carcinoma: Mutational Profile and Predisposition Gene Identification. JS. CHOI.
3369M Whole exome sequencing reveals that DNA repair and apoptosis pathways are affected in hereditary breast cancer cases. J. L. D. Mentoor.
3353S Evaluation of a multiplex PCR targeted enrichment approach for the detection of actionable mutations in FFPE samples via Next-Generation Sequencing. F. de Abreu.
3370T Selective depletion of abundant RNAs to enable transcriptome analysis of low input and highly degraded RNA from FFPE breast cancer samples. D. Munafo.
3354M Whole Genome Sequencing of Aggressive, Treatment-Naïve Prostate Tumors. B. Decker.
3371S Development of a novel Hotspot Frequency Ladder for Next Generation Sequencing (NGS) assay workflows. N. Nataraj.
3355T iCAGES: integrated CAncer GEnome Score for understanding personal cancer genomes. C. Dong.
3372M Shared driver genes of familial and sporadic pancreatic cancer may explain the similar age of onset. A. L. Norris.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS
3340T Toward rapid identification of coding fusions and structural rearrangements in cancer genomes: Multiple Myeloma First. M. Rossi.
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3373T Features of variants called from whole exome sequencing versus transcriptome sequencing in lung cancer. T. O’Brien.
3390M Comparison of NGS solutions for rapid and cost-effective analysis of degraded FFPE and cancer biobanked specimens with limited quantity. A. Brooks.
3374S Patterns of somatic mutations in hepatitis B virus-associated hepatocellular carcinomas. Q. Pan.
3391T Molecular characterization of over growth syndromes using NGS reveals potential phenotypegenotype correlation. F. Chang.
3375M Highly sensitive, non-invasive detection of colorectal cancer mutations using single molecule, third generation sequencing. G. Russo. 3376T Integrating eQTLs from a range of normal human tissues with cancer genomics to help identify germline risk alleles in cancer driver genes. A. V. Segre. 3377S Identification of mutations in oral cavity squamous cell carcinoma induced by betel quid chewing in Taiwan. Y. Shih.
3392S Small clone of JAK2V617F positive chronic eosinophilic leukemia detected by realtime PCR. N. Yu. 3393M Approaches to Integrating Germline and Tumor Genomic Data in Cancer Research. L. E. Mechanic. 3394T Multiplex detection of KRAS mutations in colorectal cancer FFPE samples using droplet digital PCR. S. Cooper.
3378M Subclonal evolution and genomic drivers of relapse in childhood acute lymphoblastic leukemia. JF. Spinella.
3395S Evidence of multiple independent NF2 somatic inactivation and tumor initiation events in neurofibromatosis type 2-associated vestibular schwannomas. A. Pemov.
3379T Integrative analysis of regulatory aberrations in lung adenocarcinoma cell lines. A. Suzuki.
3396M MicroDNA (Extra Chromosomal Circular DNA) in Mammalian Tissues and Cancer Cell Lines. P. Kumar.
3380S Molecular profiling in diagnosis and determining prognosis of “early” myelodysplastic syndrome. M. Thangavelu.
3397T Heterozygous mutations in PALB2 predispose to breast cancer by causing DNA replication and damage response defects. R. Winqvist.
3381M The Mutation Profiles of JAK2, MPL, CALR, LNK, CBL, ASXL1 and DNMT3A genes in BCR/ ABL1 and JAK2V617F Negative Myeloproliferative Neoplasms. B. Türkgenç.
3398S Investigation of de novo mutation rates in families with DNA Polymerase and exonuclease domain mutations. S. E. W. Briggs.
3382T Whole genome sequencing of high-risk families to identify new mutational mechanisms of breast cancer predisposition. T. Walsh. 3383S DICER1 mutations occurring in childhood anaplastic sarcoma of kidney. M. Wu. 3384M Single-cell mutation detection with multiplex PCR-based targeted enrichment sequencing. Z. Wu. 3385T Patient-oriented functional genomics analysis of p53 mutations in cancer. O. Zill. 3386S Expression of genomic somatic mutations at the levels of transcriptome and proteome in a patient of hepatocellular carcinoma with MSH2 haploinsufficiency. K. Ding. 3387M APC promoter 1B deletion in seven American families with familial adenomatous polyposis. A. K. Snow. 3388T Therapy-related Acute Myeloid Leukemia Transformed from Juvenile Myelomonocytic Leukemia with Loss of a PTPN11 Somatic Mutation. Y. Kim. 3389S High-resolution characterization of a leiomyoma on Mayer-Rokitansky-Kuster-Hauser syndrome. Y. Wu.
3399M NBN gene expression and cytogenetic changes in irradiated cells with NBN gene mutations. D. Januszkiewicz-Lewandowska. 3400T Mechanism of formation of complex chromosomal aberrations in patients with myelodysplastic syndromes (MDS): clonal evolution or chromothripsis? Z. Zemanova. 3401S A new control mechanism for repair of DNA in human cells: MDC1 and ATR regulate DNA DoubleStrand Break (DSB) resection independently of ATM. P. S. Bradshaw. 3402M Breast cancer eQTLs from the Nurses’ Health Study. A. Hazra. 3403T Utilization of Bioluminescence Resonance Energy Transfer (BRET) for functional evaluation of missense variants at the BRCA1-BARD1 heterodimeric RING-RING interface. T. Kayoko. 3404S TERT Polymorphism rs2736100-C Is Associated with EGFR Mutation-Positive Non-Small Cell Lung Cancer. W. Liu. 3405M Genome Analysis of Latin American Cervical Cancer: Frequent Activation of the PIK3CA Pathway. H. Lou.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS 3406T CARP Is a Potential Tumor Suppressor in Gastric Carcinoma. F. Lu.
3408M Highly Sensitive Fusion Transcript Detection and Quantification in Cancer. L. C. Watson. 3409T Charting gene regulatory networks for interpreting prostate cancer GWAS results. G. Wei. 3410S Functional analysis of mutations in polymerase epsilon gene that predispose to polymerase proofreading associated polyposis (PPAP). E. Heitzer. 3411M From GWAS to therapy: Fatty acid synthase in uterine leiomyomata. Z. Ordulu. 3412T Evaluation of miR-338-3p role in the progression of Esophageal Squamous Cell Carcinoma. H. Mollaei. 3413S Assessment of the clinical relevance of variants of uncertain significance in BRCA2 by functional and computational approaches. L. Guidugli. 3414M The role of the cilia protein Arl13b in activatedSmoothened medulloblastoma oncogenesis. S. N. Bay. 3415T Modeling cancer in zebrafish embryos. L. Francescatto. 3416S Lifestyle Issues of BRCA Mutation Carriers that May Affect and Health Outcomes. A. Caceres. 3417M Small molecule of natural origin has potential to activate TLR3 and aid in immunotherapy for cancer. A. Das. 3418T Accurate and inexpensive sequencing of BRCA1 and BRCA2: Application to a US-wide study of breast cancer in Latinas. M. Dean. 3419S How choriocarcinoma DNA identification can interfere in treatment decision? A report of two unexpected cases. G.JF. Gattas. 3420M A simple mainstreamed, oncogenetic pathway delivers fast, affordable routine BRCA testing for ovarian cancer (OC) patients. H. Hanson. 3421T Inhibition of STAT3 and RelA expression levels Bortezomib treated K-562 leukemic cells and indiction of apoptosis. N. Selvi Günel. 3422S Real-time and sequential profiling of cancer through concurrent somatic mutation and gene amplification analysis of cancer by digital sequencing of cell-free DNA from patients with metastatic solid tumors. A. Talasaz.
3423M Constitutive mismatch repair deficiency syndrome:clinical description in a French cohort. C. Colas. 3424T Germline TP53 mutation analysis in HER2positive breast cancer patients from Southern Brazil. M. Fitarelli-Kiehl. 3425S The DICER1 Leiden Open Variation Database (LOVD). N. Hamel. 3426M Breast Cancer in PTEN Hamartoma Tumor Syndrome: Can a Predictive Fingerprint Be Identified? A. Machaj. 3427T Further Defining the Polyposis Phenotype Associated with PTEN Mutations. L. Panos. 3428S Mutation and uncertain variant findings in ethnic minority patients undergoing multi-gene panel testing for cancer risk assessment at a safety-net public hospital. CN. Ricker. 3429M Majority of PTEN mutations identified on multi-gene panel tests are in non-classic patients: Expanding clinical phenotype or incomplete clinical history? E. C. Weltmer. 3430T DNA methylation profiling to assess pathogenicity of BRCA1 unclassified variants in breast cancer. K. Flower. 3431S Overexpression of MicroRNA-200c predicts poor outcome in patients with PR-negative breast cancer. K. Luostari. 3432M PDGFB hypomethylation is a favorable prognostic biomarker in primary myelofibrosis. M. Miozzo. 3433T MiR-145 regulates stem cell characteristics of human laryngeal squamous cell carcinoma Hep-2 cells. M. Ozen. 3434S Methylation of MLH3 Promoter: new recurrent finding in low grade gliomas. H. Lhotska. 3435M A Custom 5m-SeqTM Cancer NGS Panel to Detect Epigenetic Signatures of Various Cancer Types. J. Alexander. 3436T Differential DNA Methylation Patterns in Hereditary Non-polyposis Colorectal Cancer with or without Germline MLH1/MSH2 Mutation. C. H. Chen. 3437S A Custom 5m-SeqTM Immunology NGS Panel to Detect Epigenetic Signatures in Various Cancer Types. A. Meyer. 3438M HES1 gene expression in patients with Medullary Thyroid Cancer is independent of its promoter methylation. M. G. Cardoso.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS
3407S Association of Platelet Derived Growth Factor-B (PDGF-B) and Human Epidermal Growth Factor Receptor -2 (HER-2/neu) Single Nucleotide Polymorphisms (SNP’s) with Gallbladder Cancer (GBC). K. Mishra.
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3439T Genetic characterization of near-haploid and low hypodiploid acute lymphoblastic leukemia. S. Safavi.
3455S A case-control study of SNPs affecting microRNA binding sites in chronic myeloid leukemia. H. Gutiérrez-Malacatt.
3440S Functional HPSE gene SNP rs4693608 modifies heparanase expression and thereby affects the responsiveness to broad number of treatments. O. Ostrovsky.
3456M The role of Stem Cell Markers in Prostate Cancer Recurrence. E. Guzel.
3441M Distinct molecular signature of Giant Cell Tumor occurring in pagetic or non-pagetic patients suggests distinct pathologic entities. F. Gianfrancesco. 3442T miR-22 supresses cell proliferation in zoledronic acid treated glioblastoma cells by inducing autophagy and targeting mTOR. C. Caliskan. 3443S MicroRNA in biofluids - Robust biomarkers for disease. D. Andreasen. 3444M Resveratrol up-regulates tumor suppressor mir31 expression via inhibiting histon deacetylase 1 gene expression in chronic myeloid leukemia. C. Biray Avci. 3445T Association of Ile655Val polymorphism of the HER2 gene with Neutropenia toxicity in breast cancer patients treated with trastuzumab chemotherapy. D. I. Carrillo-Moreno. 3446S The BIM Deletion Polymorphism Cannot Account for Intrinsic TKI Resistance of Chinese CML Patients. X. Chen. 3447M Association of CD44 expression before, during and after treatment in patients with head and neck cancer in comparison with healthy controls. K. Chukka. 3448T PCA3 prostate cancer biomarker long noncoding transcription unit: Transcriptional interference of overlapping genes. R. Clarke. 3449S Creation of an open data sharing exchange to optimize BRCA clinical variant assessment. N. Conti. 3450M Towards the minimal breast cancer genome and its relevance to chemotherapy. S. N. Dorman. 3451T Whole exome sequencing approach in sib pairs identifies oligogenic germline mutations predisposing to early lung adenocarcinoma in non-smokers. E. Frullanti. 3452S Epigallocatechin-3-gallate induces apoptosis and autophagy via up-regulation of TNF and GABARAPL2 gene expression in chronic myeloid leukemia cells. B. Goker. 3453M Hypomorphic CYP2C9 *2 and *3 alleles associate with improved non-small-cell lung cancer (NSCLC) prognosis. L. N. Gordon. 3454T Evaluation of miR-27a, miR-181a, and miR-570 Genetic Variants with Gallbladder Cancer Susceptibility and Prognosis in North Indian Population. A. Gupta.
3457T KEAP1 genetic polymorphisms associate with breast cancer risk and survival outcomes. J. M. Hartikainen. 3458S Rare and Common Variants Contribute to Lung Cancer Survival in African Americans. C. C. Iverson. 3459M Cytogenetic abnormalities of 50 AML patients by FISH detection and conventional karyotype analysis. E. Karaca. 3460T DNA methylation profiling reveals novel diagnostic biomarkers in renal cell carcinoma. B. N. Lasseigne. 3461S Association of LEP rs7799039 (G-2548A) polymorphism with obesity in breast cancer patients. A. Méndez’Hernández. 3462M Changes in Colorectal Carcinoma Genomes under Anti- EGFR Therapy Identified by WholeGenome Plasma DNA Sequencing. S. Mohan. 3463T Zoledronic acid treatment up-regulates miR-15a via targeting antiapoptotic BCL2 gene expression in chronic myeloid leukemia. Z. Mutlu. 3464S Towards a national implementation of DNA-based personalized cancer treatment in the Netherlands. I. J. Nijman. 3465M Integration of microarray meta-analysis with RNASeq and genome-wide genetic data to identify variants associated with endometrial cancer histological subtype. T. A. O’Mara. 3466T The type II transmembrane serine proteases hepsin and TMPRSS3 are associated with breast cancer survival. M. Pelkonen. 3467S Genetic variants in the gene ARID5B associated with susceptibility to childhood acute lymphoblastic leukemia. A. Reyes-León. 3468M Cell cycle progression gene expression score and prostate cancer outcomes in a population-based cohort. R. Rubicz. 3469T Gene expression profile of human telomere and telomerase complex in intestinal-type gastric cancer. L. C. Santos. 3470S Study of expression of AKAP4, RGS22, SPAG9 and NY-ESO-1 genes as probable diagnosis and prognosis biomarkers in colorectal cancer. A. Tavakoli Koudehi.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS 3471M Gene polymorphisms as risk factors for Cervical Cancer in a South Indian Population. P. Upendram.
3473S Association of GST polymorphism with susceptibility to Leuekmia and differential chemotherapy response. S. Caplash. 3474M BCR-JAK2 Translocation with Compleks Chromosomal Karyotype. A. Ozturk Kaymak. 3475T Evaluation of rapid whole-body magnetic resonance as screening strategy for early cancer detection in Li-Fraumeni syndrome patients. M. Achatz. 3476S Spectrum of mutations in BRCA1 and BRCA2 genes in Hereditary Breast/Ovarian Cancer families from Algeria: current knowledge and implications in genetic counseling and testing. F. Cherbal. 3477M Single-cell genetic analysis reveals insights into clonal development of prostate cancers and indicates loss of PTEN as a marker of poor prognosis. K. M. Heselmeyer-Haddad. 3478T Sequence variations in known cancer susceptibility genes identified in high-risk breast cancer cases from the French GENESIS study. F. Lesueur. 3479S Genome-wide association study (GWAS) for transaminase elevations in pazopanib-treated patients. X. Wang. 3480M Correlation among MDR1, MRP and hTERT expression level and clinical response in colon cancer patients. S. Sha’bani. 3481T Association of IL-1 gene Polymorphism with HCC related to viral causes. H. A. Abdalla. 3482S Opposite expression regulation of ATP-binding cassette transporters (ABC) genes in leukemic cells during granulocyti maturation processes on imatinib therapy. L.SRA Pedroza. 3483M Inherited NK Cell Defective Mutations in Chinese Lymphoma Patients with HHV infection. Y. Zhang. 3484T Whole genome exome sequencing to identify novel candidates for hereditary predisposition to UM uveal melanoma. M. H. Abdel-Rahman. 3485S Two novel germline BAP1 mutations in two unrelated families with features of the BAP1 Tumor Predisposition Syndrome. C. M. Cebulla.
3486M Predisposition to Burkitt Lymphoma in Williams-Beuren syndrome. D. Guenat. 3487T Familial Inflammatory Fibroid Polyps Syndrome (FIFPS): Phenotype much broader than having polyps. J. Walia. 3488S High Depth HPV16 Whole Genome Sequencing of 830 PaP Cohort Specimens using Crude Exfoliated Cervical Extracts. J. Boland. 3489M Genome-wide DNA methylation patterns and genetic ancestry in sporadic breast cancer patients from a Latino population. M. Cappetta. 3490T Routine use of massively parallel sequencing for BRCA1 and BRCA2 diagnosis: a comprehensive workflow combining PCR Multiplex and sequencing chemistry on Miseq. F. Coulet. 3491S New genome-wide technologies and low volume, archival, formalin-fixed paraffin embedded material: are the two compatible? L. M. FitzGerald. 3492M Genomic sequencing reveals significantly higher mutation load in genomes of fathers of children with de novo germline mutation in RB1 gene. A. Ganguly. 3493T Differential Gene Expression In Key Oncolytic Pathways Observed Between Caucasian-American and African-American Women with Triple-Negative Breast Cancer. J. E. Getz. 3494S Shared genetic background between chronic gastroesophageal reflux and Barrett’s esophagus and esophageal adenocarcinoma, consistent with a causal relationship. P. Gharahkhani. 3495M The Kaiser Permanente Biobank: A multiregion, multi-ethnic resource linking specimens and electronic medical records for broad research in an integrated health care delivery system. KAB. Goddard. 3496T Diverse types of lymphoid cancers cluster in families. S. J. Jones. 3497S Cancer Predisposition Genes in Whole Exome Sequencing: How Do Findings Correlate with Cancer Histories? N. M. Lindor. 3498M The prostate cancer risk mutation G84E in HOXB13 is associated with the subtype of ETS fusion negative adenocarcinoma with early age of diagnosis. M. Luedeke. 3499T Complexities in genetic testing for allogeneic bone marrow transplant recipients and patients with hematologic malignancies. D. Mancini-DiNardo. 3500S Familial lung cancer: A genetic epidemiology study. D. Mandal.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
POSTER SESSIONS
3472T Association of common Cancer stem cells (CSCs) genes variants with gallbladder cancer susceptibility and prognosis in North Indian population. A. Yadav.
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3501M Identification of a novel founder MSH2*c.705delA mutation causing colon cancer in a Druze population. M. Melas. 3502T Investigating the Genetic Basis of Breast Cancer Disparities Using Whole Genome Sequencing and Parallel Computing. J. J. Pitt. 3503S The Genetic Testing in Epithelial Ovarian Cancer (GTEOC) Study: Direct access to BRCA1/2 genetic testing in oncology. M. Tischkowitz. 3504M Insecticide Exposure Induces LeukemiaAssociated Gene Aberrations. M. P. Navarrete Meneses. 3505T A systematic approach to clinical classification of DNA sequence variants in mismatch repair genes: the InSiGHT initiative. B. A. Thompson.
3506S PALB2 variant database - a joint collaboration between LOVD and ClinVar. M. J. Landrum. 3507M Combined contribution of intermediate-risk gene rare variants and modest-risk SNP genotypes to early-onset breast cancer. E. L. Young. 3508T Germline Next Generation Full Gene Sequencing of MLH1, MSH2 and MSH6 Detects Pathogenic Mutations in Cases Previously Tested Negative for a Germline Mutation. R. P. Graham. 3509S Identification of men with a genetic predisposition to prostate cancer: targeted screening of BRCA1/2 mutation carriers and controls. The IMPACT study Quality of Life Study. E. Bancroft.
The author listed is the first/presenting author that submitted the abstract. The listing is printed as submitted by the first author. The letter following each poster number indicates the day that authors will be present at their posters. S=Sunday authors will present; M=Monday authors will present; T=Tuesday authors will present. Taking photographs or recording posters is strictly prohibited. You agreed to adhere to this policy when registering.
In a complicated world, the future just got simpler. LEARN HOW AT BOOTH 1937
The QX200™ AutoDG™ Droplet Digital™ PCR system is here. Bio-Rad’s Droplet Digital PCR (ddPCR™ ) systems gave scientists the power to unveil new discoveries through precise and absolute nucleic acid quantification. The new automated droplet generator simplifies the ddPCR workflow, making digital PCR both scalable and practical. Automated droplet generation minimizes hands-on time, eliminates user-to-user variability, and makes every droplet count.
Learn more at bio-rad.com/info/ASHG
More breakthroughs. More discoveries. More publications. DROPLET DIGITAL™ PCR: Selected Publications from 2014 Abdel-Wahab O et al. (2014). Efficacy of intermittent combined RAF and MEK inhibition in a patient with concurrent BRAF- and NRASmutant malignancies. Cancer Discov 4, 538–545.
Maruyama Y et al. (2014). LC3B is indispensable for selective autophagy of p62 but not basal autophagy. Biochem Biophys Res Commun 446, 309–315.
Aubert M et al. (2014). In vitro inactivation of latent HSV by targeted mutagenesis using an HSV-specific homing endonuclease. Mol Ther Nucleic Acids 3, e146.
Miotke L et al. (2014). High sensitivity detection and quantitation of DNA copy number and single nucleotide variants with single color droplet digital PCR. Anal Chem 86, 2618–2624.
Beaver JA et al. (2014). Detection of cancer DNA in plasma of patients with early-stage breast cancer. Clin Cancer Res 20, 2643–2650.
Oellerich M et al. (2014). Use of graft-derived cell-free DNA as an organ integrity biomarker to reexamine effective tacrolimus trough concentrations after liver transplantation. Ther Drug Monit 36, 136–140.
Devonshire AS et al. (2014). Towards standardisation of cell-free DNA measurement in plasma: Controls for extraction efficiency, fragment size bias and quantification. Anal Bioanal Chem, May 24 [Epub ahead of print]. Accessed July 9, 2014. Furlan D et al. (2014). APC alterations are frequently involved in the pathogenesis of acinar cell carcinoma of the pancreas, mainly through gene loss and promoter hypermethylation. Virchows Arch 464, 553–564. Gu W et al. (2014). Noninvasive prenatal diagnosis in a fetus at risk for methylmalonic acidemia. Genet Med 16, 564–567. Hashimoto-Torii K et al. (2014). Roles of heat shock factor 1 in neuronal response to fetal environmental risks and its relevance to brain disorders. Neuron 82, 560–572. Johnson BE et al. (2014). Mutational analysis reveals the origin and therapydriven evolution of recurrent glioma. Science 343, 189–193. Kay MA and Walker BD (2014). Engineering cellular resistance to HIV. N Engl J Med 370, 968–969.
Oxnard GR et al. (2014). Noninvasive detection of response and resistance in EGFR-mutant lung cancer using quantitative nextgeneration genotyping of cell-free plasma DNA. Clin Cancer Res 20, 1698–1705. Qin J et al. (2014). Preservation of circulating cell-free fetal RNA in maternal blood using a blood collection device containing a stabilizing reagent. J Mol Genet Med 8, 097. Roberts CH et al. (2014). Killer-cell immunoglobulin-like receptor gene linkage and copy number variation analysis by droplet digital PCR. Genome Med 6, 20. Shlush LI et al. (2014). Identification of pre-leukaemic haematopoietic stem cells in acute leukaemia. Nature 506, 328–333. Sun B et al. (2014). Simultaneous quantification of alternatively spliced transcripts in a single droplet digital PCR reaction. Biotechniques 56, 319–325. Takahashi K et al. (2014). Analysis of extracellular RNA by digital PCR. Front Oncol 4, 129.
Kiselinova M et al. (2014). Comparison of droplet digital PCR and seminested real-time PCR for quantification of cell-associated HIV-1 RNA. PLoS One 9, e85999.
Takahashi K et al. (2014). Modulation of hypoxia-signaling pathways by extracellular linc-RoR. J Cell Sci 127, 1585–1594.
Li N et al. (2014). Digital PCR quantification of miRNAs in sputum for diagnosis of lung cancer. J Cancer Res Clin Oncol 140, 145–150.
Tamayo E et al. (2014). Quantification of IgM molecular response by droplet digital PCR as a potential tool for the early diagnosis of sepsis. Crit Care 18, 433.
Ludlow AT et al. (2014). Quantitative telomerase enzyme activity determination using droplet digital PCR with single cell resolution. Nucleic Acids Res, May 26 [Epub ahead of print]. Accessed July 9, 2014.
Tebas P et al. (2014). Gene editing of CCR5 in autologous CD4 T cells of persons infected with HIV. N Engl J Med 370, 901–910.
Manoj P (2014). Droplet digital PCR technology promises new applications and research areas. Mitochondrial DNA, April 29 [Epub ahead of print]. Accessed July 9, 2014.
Yamasaki S et al. (2014). Generation of human induced pluripotent stem (lps) cells in serum- and feeder-free defined culture and TGF-β1 regulation of pluripotency. PLoS One 9, e87151.
Learn more at bio-rad.com/info/ASHG
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EXHIBIT HALL FEATURES AND HOURS The purpose of the exhibit program is to further the education of registrants by providing an opportunity for exhibitors to present information on products or services relevant to registrants’ professional interests. Registrants are encouraged to view the exhibits in the Exhibit Hall of the Convention Center during the following hours: Sunday: Monday: Tuesday:
11:00 am – 7:00 pm 10:00 am – 4:00 pm 10:00 am – 4:15 pm
Products: To assist in locating specific products and services of interest, a product and service index appears on the 2014 website and within the mobile app. This index is organized alphabetically by products/services, followed by names of exhibiting companies offering the product/service and their respective booth numbers. Booth numbers also follow the names of the exhibiting companies below. Expo Ed: Exhibit Theater Exhibit Hall, Booth #1605 Visit the Expo Ed: Exhibit Theater and hear presentations of product findings, case studies, and more from exhibiting companies in a quieter, smaller setting conveniently located on the Exhibit Hall floor. Presentations will be held in 45-minute increments. Refer to page 33 for details. Why Are Exhibits Important? You need exhibitors and exhibitors need you! Exhibitors need your expertise and in turn, exhibitors supply you with solutions. When you work with exhibitors, you aren’t working with just the sales staff. You are engaging ASHG member scientists and their expertise while helping to create the next wave of technology and services that better serve the field of genetics in research and clinical applications. You’ll also see exhibitors in program-committee approved talks and posters. There’s no better place to see hundreds of companies’ instruments, services, solutions, and publications than in the Exhibit Hall. Think of it as a live web search on how to make your job more productive and compare products all under one roof in a short period of time.
EXHIBITORS
NOTES
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FLOOR PLAN OF EXHIBIT AND POSTER AREA
Drop by booth #1236 and discover how RainDance Technologies is making Complex Genetics Simple™. Attend our workshop to learn how we are enabling non-invasive Fluid Biopsy™ research applications
RainDanceTech.com
on Tuesday, 10/21 at 1pm: Room 5B, Upper Level. #LetItRain
VISIT THE EXHIBITS AND POSTERS Sunday Monday Tuesday
11:00 am – 7:00 pm 10:00 am – 4:00 pm 10:00 am – 4:15 pm
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EXHIBITORS Q Active Motif, Inc ........................................ 121 Email:
[email protected] URL: http://www.activemotif.com
Q Affymetrix, Inc. ........................................ 1231 Email:
[email protected] URL: http://www.affymetrix.com
Active Motif is the industry leader in developing and delivering innovative tools to enable epigenetics and gene regulation research. We are committed to providing the highest quality products, services and support for the epigenetics research and drug discovery communities and to help researchers simplify integrating epigenetics research into their studies.
Affymetrix tools for translational sciences enable whole-genome analysis through single-gene validation across diverse sample types. Our solutions for GWAS, targeted genotyping, cancer or constitutional cytogenetics, copy number analysis, whole-transcript profiling, and real-time PCR reagents provide an integrated view of the gene-protein-cell, for faster translation of discoveries to treatments.
Q Adaptive Biotechnologies Corp. ............. 738 Email:
[email protected] URL: http://www.adaptivebiotech.com/
Adaptive Biotechnologies Corporation is a platform-based, diagnostic-driven company that leverages next generation sequencing (NGS) to profile T-Cell and B-Cell Receptors (TCRs and BCRs). This breakthrough enables in-depth characterization of the adaptive immune system. By incorporating immunosequencing into clinical care, Adaptive can enhance the diagnosis, prognosis, and monitoring of cancer patients.
Q Agilent Technologies ................................ 331 Email:
[email protected] URL: http://www.genomics.agilent.com
Agilent Technologies market-leading Genomics Solutions Division provides application-focused solutions. Perform gDNA sample QC with the TapeStation system, simplify the sequencing of clinical research samples from custom design to mutation report using the HaloPlex NGS target enrichment workflow, and examine chromosomal aberrations with CGH+SNP Arrays and SureFISH Probes. Q Alexion Pharmaceuticals ......................... 812 Email:
[email protected] URL: http://www.alxn.com
Advaita Bioinformatics develops advanced pathway analysis applications with capabilities to integrate multi-omics data. While the industry still exploits typical over-representation models, Advaita’s iPathwayGuide uses Impact Analysis, which considers the type, location and interaction between the genes from a systems biology perspective. This unique approach results in no false positives.
Alexion develops and delivers life-transforming therapies to treat severe and life-threatening diseases that are also ultra-rare. We developed Soliris® (eculizumab), a first-in-class terminal complement inhibitor. We are investigating other product candidates, including asfotase alfa, an enzyme replacement therapy for hypophosphatasia (HPP), a severe multisystem metabolic disorder.
Q Advanced Analytical ................................. 412 Email:
[email protected] URL: http://www.aati-us.com
Q Alpaqua Engineering, LLC ....................... 720 Email:
[email protected] URL: http://www.alpaqua.com
Want faster results? The Fragment Analyzer™, uses capillary electrophoresis to quantify and qualify Next Gen Sequencing (NGS) fragment libraries by automating the separation of fragments. Additionally, the instrument analyzes total RNA, and genomic DNA up to 40,000 bp. Other applications include SSR/Microsatellites, and mutation detection (TILLiNG).
ALPAQUA is a global provider of tools for accelerating genomic applications such as NGS, nucleic acid extraction and clean up, exome capture, and molecular diagnostics. Our products include high performance magnet plates containing proprietary spring cushion technology, as well as temperature blocks, SBS tube racks, and Alpillo® microplate holders.
= First time exhibitor Shaded = Meeting Supporter
EXHIBITORS
Q Advaita Bioinformatics ............................. 624 Email:
[email protected] URL: http://www.advaitabio.com
206 EXHIBITORS Q Ambry Genetics ...................................... 1131 Email:
[email protected] URL: http://www.ambrygen.com
Q American Board of Medical Genetics and Genomics ............................................ 1722 Email:
[email protected] URL: http://www.abmgg.org
The American Board of Medical Genetics and Genomics (ABMGG) (note new name) has been certifying individuals in human genetics since 1981. We also accredit training programs in the laboratory specialties of genetics.
American College of Medical Genetics and Genomics ............................................ 1724 Email:
[email protected] URL: http://www.acmg.net Q
The American College of Medical Genetics and Genomics Providing education, resources and a voice for the medical genetics profession. Stop by our booth #1724 to learn more about College initiatives, continuing education programs, membership and events. Save $125 on ACMG Membership and our annual meeting registration. Q American Heart Association .................. 1621 Email:
[email protected] URL: http://www.myamericanheart.org
Visit the AHA booth to receive information on AHA scientific conferences, AHA/ASA professional membership, scientific publications, AHA’s Focus on Quality Program, patient education, Connected Heart Health and much more. Learn how you can join more than 30,000 professional members and receive more benefits than ever! Q American Journal of Human Genetics . 1333 Email:
[email protected] URL: http://www.ajhg.org
The American Journal of Human Genetics (AJHG) provides a record of research and review relating to heredity in humans, and the application of generic principles in medicine and public policy, and related areas of molecular and cell biology, behavioral, molecular, biochemical, population, and clinical genetics. AJHG celebrates 65 years in 2014! Stop by the booth in ASHG Central to get your commemorative lanyard.
= First time exhibitor Shaded = Meeting Supporter
Q American Society of Human Genetics .. 1331 Email:
[email protected] URL: http://www.ashg.org
Located in ASHG Central in the heart of the Exhibit Hall! Come sit in comfortable chairs, network, and recharge your devices. You will also have access to ASHG Membership and The American Journal of Human Genetics and you can learn more about ASHG 2015’s destination, Baltimore, Maryland. Make ASHG Central your meeting place! Q Amicus Therapeutics, Inc. ........................521 Email:
[email protected] URL: http://www.amicustherapeutics.com
Amicus Therapeutics is a biopharmaceutical company at the forefront of therapies for rare and orphan diseases. The Company is developing novel, first-inclass treatments for a broad range of human genetic diseases, with a focus on delivering new benefits to individuals with lysosomal storage diseases. Q Analytic Jena ........................................... 1936 Email:
[email protected] URL: http://www.uvp.com
Analytik Jena and UVP provide products for life science research. Products include nucleic acid isolation, extraction and enrichment kits, manual homogenizer and automated nucleic acid extraction systems, standard and real-time thermal cyclers as well as UVP’s gel/blot imaging systems, hybridization ovens, PCR hoods and ultraviolet products. Q Annai Systems Inc.` ...................................816 Email:
[email protected] URL: http://www.annaisystems.com
At Annai Systems, we are changing the way the “big data” of genomics is handled. Our System improves the value of genomic data through secure management, high-speed transfer, discovery and access to normalized high value data sets, creating a worldwide data exchange network. Q
ApolloGen, Inc............................................215
ApolloGen is a clinical diagnostic company that offers physicians and individuals with actionable genetic sequencing results on risk prediction panels, major disease panels, mini-exome panel, and single gene tests. ApolloGen is dedicated to help individuals and their families make personalized and informative decisions about their diagnosis and health management.
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Q Appistry ......................................................814 Email:
[email protected] URL: http://www.appistry.com/
Q Artel.......................................................... 1122 Email:
[email protected] URL: http://www.artel-usa.com
Appistry, Inc., brings the power of genomics to nextgeneration medicine by making genomics data easier for researchers and clinicians to act on. Appistry’s world-class tools, software, and cloud services streamline the development and implementation of NGS analysis pipelines and make genomics tests easier to access.
Artel is the world-leading liquid handling quality assurance expert, specializing in solving liquid handling quality, productivity and compliance challenges for laboratories. Our customers include clinical, diagnostic and biotechnology companies and regulatory bodies, as well as laboratories in the pharmaceutical, university, forensic, public health and environmental sectors.
Q Applied Spectral Imaging, Inc. .................231 Email:
[email protected] URL: http://www.spectral-imaging.com
Applied Spectral Imaging (ASI) makes patient care better through advanced biomedical microscopy imaging. The GenASIs automated imaging platforms for genetic and pathological analysis provide state of the art diagnostic aids for cytogeneticists and pathologists. GenASIs platforms enable automated tissue analysis for primary diagnostics, with reproducible and reliable results. GenASIs Hyperspectral with HiSKY Probes provide superb biomedical analyses surpassing the abilities of normal human vision.
Ariosa Diagnostics ................................. 1138 Email:
[email protected] URL: http://www.ariosadx.com Q
Ariosa Diagnostics, Inc. is a leading global molecular diagnostics company committed to improving overall patient care. Our Harmony™ Prenatal Test is a blood test for any pregnant woman that can be used as early as ten weeks into pregnancy to assess the risk of fetal trisomies, providing reliable information through directed analysis of cell-free DNA.
Arraystar Inc............................................ 1237 Email:
[email protected] URL: http://www.arraystar.com Q
= First time exhibitor Shaded = Meeting Supporter
The ARUP Genetics Division provides a comprehensive test menu in the disciplines of molecular genetics, cytogenetics, FISH, maternal serum screening, genomic microarray, and biochemical genetics. We continuously expand our test menu as new procedures and markers of clinical utility are identified. Genetic counselors are available for consultation and interpretation. Q ASHG/FASEB Career Resources ........... 1533 Email:
[email protected] URL: http://careers.faseb.org
The Career Resources Booth operated by FASEB and ASHG is located next to the Professional Development Theater and offers career guidance, interview tips, resume/CV critiques, one-on-one coaching (by appointment only), and more. Employment Boards will be available in this area for viewing and posting positions. Q Association for Molecular Pathology.... 1924 Email:
[email protected] URL: http://www.amp.org
AMP’s 2,000+ members include individuals from academic and community medical centers, government, and industry; including, basic and translational scientists, pathologist and doctoral scientist laboratory directors, medical technologists, and trainees. AMP is International with members in more than 45 countries. Stop by and enter to win a free year of membership!
EXHIBITORS
Arraystar provides integrated sample to data microarray and next generation sequencing services, along with many key reagents and kits. Our microarray profiling services include LncRNA (long non-coding RNA), gene expression, MeDIP-chip, ChIP-chip, piRNA, LncRNA Promoter, pathway focused, disease specific, and custom-designed microarrays. Our highthroughput sequencing services include LncRNA, mRNA, microRNA, MeDIP-seq & ChIP-seq services.
Q ARUP Laboratories ................................. 1923 Email:
[email protected] URL: http://www.aruplab.com/genetics
208 EXHIBITORS Q ASURAGEN, INC. .......................................213 Email:
[email protected] URL: http://www.asuragen.com
Asuragen is a fully integrated molecular diagnostics company using genomics to drive patient management. We offer diagnostic products and clinical laboratory testing services focused on innovative PCR-based approaches for fragile X testing (FMR1 gene), including AmplideX® CGG repeat analysis, mPCR analysis for detection of FMR1 methylation status, and Xpansion Interpreter® for determination of AGG interruption status.
Q Baylor College of Medicine, Medical Genetics Laboratories............................... 631 Email:
[email protected] URL: http://www.bcmgeneticlabs.org
Baylor College of Medicine, Medical Genetics Laboratories offer a broad range of diagnostic genetics tests including DNA diagnostics, sequencing, cytogenetics, FISH diagnostics, cancer cytogenetics, chromosomal microarray analysis, whole exome sequencing, biochemical genetics, prenatal diagnostics and screening, and Mitochondrial DNA analysis. Please visit our booth for more information.
Q AutoGen, Inc. .............................................713 Email:
[email protected] URL: http://www.autogen.com
Q B. Braun CeGaT, LLC. ............................. 1831 Email:
[email protected] URL: http://www.bbrauncegat.com
AutoGen is now the sole supplier of consumables to the worldwide QIAGEN Autopure LS installed base. Our FLEX STAR is the direct replacement to aging Autopures and features positive sample tracking and the processing capacity you need for real productivity. It uses Qiagen’s FlexiGene reagents to produce high quality, high molecular weight DNA. Visit us in booth 713.
B. Braun CeGaT LLC, a genetic diagnostic laboratory, specializes in utilizing next generation sequencing technology to discover the cause of an individual’s disease at the molecular level. Using that information, we are able to pinpoint a diagnosis, help guide treatment decisions, and improve patient care and outcomes.
Ayasdi .........................................................223 Email:
[email protected] URL: http://Ayasdi.com Q
Ayasdi is transforming how the world uses data to solve complex problems by automatically discovering insights from complex datasets. The Ayasdi Platform merges the results of hundreds of machine learning algorithms using Topological Data Analysis (TDA), enabling users to explore their data within interactive applications.
Azco Biotech, Inc. ......................................217 Email:
[email protected] URL: http://www.azcobiotech.com Q
Azco Biotech, a premier supplier of products for nucleic acid synthesis and sequence detection. Products include solutions for capillary and second generation sequencing, DNA/RNA synthesizers including the OligoArray capable of synthesizing up to 8 microarray chips simultaneously with up to 94,000 probes per chip. We also provide world class service.
= First time exhibitor Shaded = Meeting Supporter
Q BC Platforms Ltd .......................................630 Email:
[email protected]
URL: http://www.bcplatforms.com BC Platforms develops clinical and genomic data integration and analysis software. Our software is used in genomic research, genetic counseling, pharmacogenomics research, preventive and personalized medicine, and biobanking. The company, headquartered in Finland, was founded in 1997 and today we serve a wide international customer base in 18 different countries. Q Beckman Coulter Genomics.................. 1312 Email:
[email protected] URL: http://www.beckmangenomics.com
Beckman Coulter Genomics specializes in next generation and Sanger sequencing services across the Illumina HiSeq 2000/2500, Roche 454 FLX, and ABI 3730XL sequencing platforms supporting life science, healthcare and the biopharma industries worldwide. Applications supported include exome and targeted resequencing, RNA-Seq, genome sequencing, genotyping, and expression analysis.
EXHIBITORS
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Q Beckman Coulter, Inc. ...............................238 Email:
[email protected] URL: http://www.beckmancoulter.com
Q BioDiscovery, Inc. ......................................836 Email:
[email protected] URL: http://www.biodiscovery.com
Beckman Coulter Life Sciences provides a comprehensive set of genetic analysis applications, from quantitative multiplex gene expression to sequencing and fragment analysis. Our solutions are uniquely designed to simplify and automate genomic analysis processes and accelerate the identification of new markers in the fields of biological, diagnostic and therapeutic research.
BioDiscovery develops advanced software solutions for the analysis of data from high-throughput microarray and next-generation sequencing (NGS) technologies and provides a full line of modular software packages built for power, versatility, and efficiency spanning image analysis, data processing, and advanced analysis of CNV, expression, methylation, and sequence variation data.
Q BGI Tech .....................................................830 Email:
[email protected] URL: http://www.bgitechsolutions.com
BGI Tech, a subsidiary of BGI - the world’s largest genomics organization, provides sequencing and bioinformatics service solutions for global customers in biomedical, agricultural, and environmental areas. Equipped with the industry’s broadest array of cutting-edge technologies, BGI Tech delivers rapid, cost-effective, and high-quality results that enable researchers to achieve scientific breakthroughs. Q Bina Technologies .................................. 1919 Email:
[email protected] URL: http://www.binatechnologies.com
Q BioFire Defense .........................................634 Email: cameron.gundry@biofiredefense.com URL: http://www.biofiredefense.com
The LightScanner is the first system to use Hi-Res Melting™ (also known as High Resolution Melting, or HRM) analysis for mutation scanning and genotyping in 96- or 384-well plate system. Standardization is important for research, making the plate format preferable in many settings. It is compatible with nearly all thermal cyclers and qPCR machines. Q BioMarin Medical Affairs ...........................539 Email:
[email protected] URL: http://www.bmrn.com
Bina Technologies is defining the standards of highperformance genomic analysis. Bina’s integrated, scalable, and comprehensive analysis platform empowers clinical and academic researchers to gain insight from their genomics data sets. Bina’s products dramatically decrease the complexity, time, and cost of the analysis, accelerating the science of personalized medicine.
BioMarin develops and commercializes innovative biopharmaceuticals for serious diseases and medical conditions. Approved products include the first and only medications for PKU and LEMS, and the first and only enzyme replacement therapies for MPS I, MPS VI and Morquio A syndrome.
Q BIOBASE Corporation ...............................323 Email:
[email protected] URL: http://www.biobase-international.com
Q BioMarin Pharmaceutical Inc. ..................439 Email:
[email protected] URL: http://www.bmrn.com
BIOBASE, a QIAGEN company, headquartered in Wolfenbüttel, Germany, is a leading provider of manually-curated biological databases and software for the life sciences. BIOBASE’s array of products including HGMD®, Genome Trax™ and PGMD™ offers a well-structured data, assembled by highly qualified subject-matter experts, organized in an accessible and easily searchable manner.
BioMarin develops and commercializes innovative biopharmaceuticals for serious diseases and medical conditions. Approved products include the first and only medications for PKU and LEMS, and the first and only enzyme replacement therapies for MPS I, MPS VI and Morquio A syndrome.
BioDatomics BioDT NGS data analysis platform increases biologist and bioinformatician productivity by executing pipelines up to 100 times faster and by providing actionable insights more intuitively. BioDT, available in both data center license and cloud-based service versions, is an open source platform based on the Hadoop Big Data analysis engine. = First time exhibitor Shaded = Meeting Supporter
BioMicroLab is an innovator of drug discovery productivity tools for researchers. We offer affordable benchtop sample management automation systems for: (1) volume inventory management, (2) sorting, capping, decapping, and weighing test tubes, (3) automated liquid handling systems, (4) tube and vial print and apply labeling, and (5) 2D barcode decoding.
EXHIBITORS
Q BioDatomics ............................................ 1219 Email:
[email protected] URL: http://www.biodatomics.com/
Q BioMicroLab ............................................ 1041 Email:
[email protected] URL: http://www.biomicrolab.com
210 EXHIBITORS Q BioNano Genomics, Inc. ...........................731 Email:
[email protected] URL: http://www.bionanogenomics.com
Q Blueprint Genetics .....................................220 Email:
[email protected] URL: http://www.blueprintgenetics.com
BioNano Genomics Irys platform provides unprecedented understanding of whole-genome biology. Genome maps are generated from massively parallel single-molecule visualization of extremely long DNA, and provide the long-range contiguity critical for de novo sequence scaffolding. Structural variants and repeats are directly measured within long reads for comprehensive genome analysis.
Blueprint Genetics provides NGS-based genetic diagnostics of rare diseases. Our patented targeted sequencing method, OS-Seq™, enables us to provide high quality service with competitive prices. In only 21 days, we provide a full service with sequencing, bioinformatics analysis, Sanger confirmation and a comprehensive statement made by our geneticists and clinicians.
Q Bioo Scientific ............................................939 Email: info@biooscientific.com URL: http://www.biooscientific.com
Q Broad Institute Genomics Platform ...... 1215 Email:
[email protected]
Bioo Scientific provides innovative solutions for next generation sequencing library prep. These solutions include our NEXTflex kits, which offer improved quantitation, increased sensitivity, flexibility and speed for NGS library preparation. DNA-seq, ChIP-seq, Methylseq, and RNA-seq kits are available with up to 192 barcoded adapters.
Bio-Rad .................................................... 1937 Email:
[email protected] URL: http://www.discover.bio-rad.com Q
Depend on Bio-Rad for tools, technologies and expertise to enable genomic & proteomic analysis. Bio-Rad provides instrumentation and reagents for droplet digital PCR, conventional and real-time PCR, amplification reagents and primers, flow cytometry, cell counting, fluorescent cell imaging, transfection, electrophoresis, blotting-systems, chromatography, and imaging.
Biosearch Technologies, Inc.....................431 Email:
[email protected] URL: http://www.biosearchtech.com Q
Biosearch Technologies, Inc. is a manufacturer of sophisticated oligonucleotides, including Dual-Labeled BHQ Probes for real-time and multiplex qPCR applications. Biosearch also offers Stellaris FISH Probes, providing a means to localize, detect, and quantify RNA in situ. Pre-designed probe sets and free online design for custom probe sets are also available.
= First time exhibitor Shaded = Meeting Supporter
The Broad Institute Genomics Platform provides comprehensive genomic services and continues to push genomic technology through the application of operational excellence, advanced process design and data analysis. Our offerings include Clinical (CLIA), Whole Genome, Human Exome and RNA Sequencing in addition to Genotyping and a range of custom services. Q Cartagenia ............................................... 1132 Email:
[email protected] URL: http://www.cartagenia.com
Cartagenia helps labs to confidently interpret, report and share genomic variants. Reduce turnaround time, build informed variant assessment pipelines, generate clinical grade lab reports, and manage increasing volumes of data. Bring together CNVs and molecular variation. Use clinical phenotypes. Assess genes, panels, exomes and genomes - postnatal, prenatal, constitutional, and somatic. Q Cell Press ................................................ 1425 Email:
[email protected] URL: http://www.cell.com
Cell Press publishes The American Journal of Human Genetics, the premier journal of the American Society of Human Genetics. Visit booth 1425 to learn more about this exciting partnership and ASHG member discounts on journals including Cell.
EXHIBITORS
Center for Inherited Disease Research (CIDR) ......................................................... 1723 Email:
[email protected] URL: http://www.cidr.jhmi.edu Q
The Johns Hopkins University Center for Inherited Disease Research (CIDR) provides high quality next generation sequencing and genotyping services to investigators working to discover genes that contribute to disease. CIDR offers custom targeted, whole exome and whole genome sequencing services as well as GWAS, custom, epigenetic and linkage genotyping. Q Centogene AG ......................................... 1220 Email:
[email protected] URL: http://www.centogene.com
CENTOGENE is a world leader in the field of genetic diagnostics for rare hereditary disorders. We support medical professionals worldwide with advanced genetic testing services, providing high quality reports to make the right decisions for your patients. CENTOGENE holds multiple accreditations including ISO, CAP, and CLIA. Q chemagen from PerkinElmer, Inc. ............813 Email:
[email protected] URL: http://www.PerkinElmer.com
chemagen- a leading supplier of automation/reagents for fast, reliable magnetic bead based DNA/RNA extraction for sample volumes from 10 ul to 10 ml for blood, tissues, saliva, bacteria, food, PCR products. All functions can be performed on one instrument. Advantages of this unique system are fast processing, unmatched sample volume range and robust chemistry. Q Chroma/89 North .....................................2018 Email:
[email protected] URL: http://www.chroma.com
Q ChunLab, Inc. .............................................139 Email:
[email protected] URL: http://www.chunlab.com
As a leader in bioinformatics, ChunLab offers a suite of sophisticated yet easy to use software solutions for next generation sequencing that are each designed for a specific research discipline: metagenomics, genomics and transcriptomics. With ChunLab’s point and click software tools, it’s like having a bioinformatics team directly on your desktop. Q CIHR Institute of Genetics ..................... 1619 URL: http://www.cihr.gc.ca/e/13147.html
The CIHR Institute of Genetics supports research on the human and model genomes and on all aspects of genetics, basic biochemistry and cell biology related to health and disease, including the translation of knowledge into health policy and practice, and the societal implications of genetic discoveries. Q City of Hope Clinical Molecular Diagnostic Laboratory .............................. 1825 Email:
[email protected] URL: http://cmdl.cityofhope.org
The City of Hope Molecular Diagnostic Laboratory (CMDL) specializes in clinical genetic testing services for cancer predisposition, coagulopathies, connective tissue disorders, muscular dystrophies, neuropsychiatric disorders and pharmacogenetics. We are a CLIA and CAP reference laboratory since 1994. For more up-to-date information about our tests, please visit our website. Q Claritas Genomics .................................. 1032 Email:
[email protected] URL: http://www.claritasgenomics.com
Claritas Genomics is a genetic diagnostic laboratory that has the goal of providing the highest quality testing services for diagnosis of pediatric disorders. We are partnering with pediatric hospitals to promote sharing of infrastructure in genetic testing, data for research, expertise, and best practices. Q Cold Spring Harbor Laboratory Press . 1325 Email:
[email protected] URL: http://www.cshlpress.org
Cold Spring Harbor Laboratory continues to shape contemporary biomedical research and education with programs in cancer, neuroscience, plant biology, and quantitative biology. Its Meetings & Courses program hosts more than 8,000 scientists from around the world each year and its Press publishes books, journals, and electronic media for scientists, students, and the general public. = First time exhibitor Shaded = Meeting Supporter
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Chroma specializes in the design and manufacture of precision sputtered optical filters and coatings. We provide the greatest accuracy in color separation, optical quality and signal purity for applications such as low-light fluorescence microscopy and cytometry; spectrographic imaging in optical microscopy; laserbased confocal and multi-photon instrumentation; and Raman spectroscopy.
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212 EXHIBITORS Q Columbia University Medical Center .... 1623 URL: http://www.cumc.columbia.edu
Q Cypher Genomics ................................... 1525 URL: http://www.cyphergenomics.com
The Laboratory of Personalized Genomic Medicine of the Department of Pathology and Cell Biology is a state-of-the-art diagnostic laboratory which performs cutting-edge tests in the areas of genetics, oncology, cytogenomics, and molecular microbiology. The laboratory is accredited by CLIA, the College of American Pathologists and the Clinical Laboratory Evaluation Program of NY State DOH.
Cypher Genomics, the genome informatics company, provides solutions for users of human genome sequencing. Mantis™, a genome interpretation software as a service, and Coral™, a biomarker discovery service, can improve healthcare and reduce costs by facilitating improved diagnostic accuracy and earlier interventions, optimizing therapeutic approaches and reducing adverse drug reactions.
Q CombiMatrix Diagnostics ...................... Email:
[email protected] URL: http://www.cmdiagnostics.com
Q Cytocell .......................................................322 Email:
[email protected] URL: http://www.ogt.com
CombiMatrix is a clinical diagnostic laboratory specializing in cytogenomic testing for prenatal diagnosis, miscarriage analysis, and pediatric developmental disorders. As a full-scale cytogenetic and cytogenomic laboratory, CombiMatrix offers chromosomal microarray analysis, standard and customized FISH, and high resolution karyotyping to help clinicians better care for their patients.
Cytocell celebrates more than 20 years as a leading provider of fluorescence in situ hybridization (FISH) probes for the accurate detection of human genetic diseases. With over 430 different products, Cytocell provides a comprehensive range FISH probes for use in clinical cytogenetics. For more information about our products for oncology and constitutional genetics, plus our custom probe design service, visit www.cytocell.com. Cytocell, now part of Oxford Gene Technology.
Q Connective Tissue Gene Tests .............. 1021 Email:
[email protected] URL: http://www.ctgt.net
CTGT is committed to providing the broadest range of molecular diagnostic tests for inherited connective tissue disorders over 330 tests and still growing. CTGT has high test sensitivity, fast turnaround time, expert advice and superior customer service. Q Coriell Institute for Medical Research .. 1223 Email:
[email protected] URL: http://ccr.coriell.org
Coriell Institute is an independent, non-profit biomedical research center based in Camden, New Jersey. Founded in 1953, the Institute pioneers research in personalized medicine and iPS cells. The Coriell Biobank contains the most diverse collection of highly-characterized, quality cell lines, DNA, RNA and biofluids, along with rich phenotypic data. Q Covaris Inc. ................................................336 Email:
[email protected] URL: http://www.covarisinc.com
Covaris provides advanced sample preparation systems for life/analytical sciences. Covaris supports formulations applications including, nanosuspensions, nanoemulsions crystallization and liposome creation. AFA technology brings unsurpassed speed and efficiency to sample preparation. AFA is based on shock wave physics, delivering controlled, precise, and accurate acoustic energy to biological and chemical samples. = First time exhibitor Shaded = Meeting Supporter
Q DeNovix Inc. ...............................................534 Email:
[email protected] URL: http://www.denovix.com
DeNovix Inc. (Wilmington, DE) is an instrumentation company that designs, manufactures, and sells laboratory equipment for life science applications. Our products include the DS-11 Spectrophotometer, a stand-alone micro-volume spectrophotometer for quantification of nucleic acids and proteins. The DS-11 features an Android based OS, hi-res touch screen, as well as Wi-Fi, Ethernet, and USB connectivity. Q Diagenode Inc ............................................315 Email:
[email protected] URL: http://www.diagenode.com
Diagenode, the leading provider of complete solutions for epigenetics research, offers innovative shearing and automation instruments, reagent kits, and high quality antibodies to streamline DNA methylation, ChIP, and ChIP-seq workflows. Our latest innovations include a full automation system, ChIPseq kits for only 10,000 cells, and the industry’s most validated antibodies.
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Q Diploid ...................................................... 1833 Email:
[email protected] URL: http://www.diploid.com
Q Douglas Scientific ................................... 1909 Email: jill.walerius@douglasscientific.com URL: http://www.DouglasScientific.com
Diploid offers human genome interpretation as a service to genetic departments and commercial labs. Based on your NGS data and a phenotype description, an extensive report listing the suspected causal variants is delivered to you within 12 business days. Stop by our booth for a free exome analysis.
Q Edico Genome Inc. ....................................632 Email:
[email protected] URL: http://www.edicogenome.com
Q DNA Genotek .............................................113 Email:
[email protected] URL: http://www.dnagenotek.com
DNA Genotek provides high-quality biological sample collection, stabilization and preparation products for human genetics, microbiology and animal genetics. The company’s products protect and stabilize multiple sample types for long-term storage at ambient temperature to ensure the highest quality results for genetic analysis and testing. Q DNA Link USA Inc. .....................................237 Email:
[email protected] URL: http://www.dnalink.com
A full service sequencing and bioinformatic service provider supporting research, medical, agricultural, and environmental clients across the world. By providing the right amount of experimental design and optimal next generation sequencing technologies, we achieve a high level of expertise that is demanded by our customers. DNA LINK USA, Your Link To Precision Genomics. Q DNAnexus, Inc. ....................................... 1114 Email:
[email protected] URL: http://www.dnanexus.com
DNAnexus provides a comprehensive genomics data management platform for scientific organizations that need to analyze, store, and share genomic information. Unlike traditional local-servers or cloud-based do-it-yourself approaches, DNAnexus offers an easy path to the economic, security, and scalability advantages of the cloud for genomics data.
DNASTAR has pioneered development of desktop computer and cloud sequence assembly and analysis software to increase life scientists’ productivity for over 25 years. DNASTAR’s products include Lasergene software for traditional sequence analysis, next-generation DNA and RNA sequence assembly and analysis, and protein sequence and structure visualization. = First time exhibitor Shaded = Meeting Supporter
Q Edimer Pharmaceuticals ...........................239 Email:
[email protected] URL: http://www.xlhednetwork.com
Edimer Pharmaceuticals is dedicated to developing EDI200 as a treatment for X-linked Hypohidrotic Ectodermal Dysplasia (XLHED). XLHED is a rare genetic condition that causes symptoms including lack of sweat glands, poor temperature control, respiratory problems, and hair and tooth malformations. Learn more about enrollment into our clinical trials at http:// www.xlhednetwork.com/clinical-trial.php. Q Elsevier .................................................... 1423 Email:
[email protected] URL: http://www.elsevier.com
Explore Elsevier’s quality content in genetics. Learn the latest in research from journals such as European Journal of Medical Genetics and open access journals, Applied and Translational Genomics and Meta Gene. Our exciting books include Transgenerational Epigenetics, Principles of Developmental Genetics, Epigenetics in Psychiatry, and more. Discover our electronic research and solution tools on ScienceDirect! Q Embi Tec .................................................. 1113 Email:
[email protected] URL: http://www.embitec.com
Embi Tec manufactures and distributes equipment for the modern-day lab: The ultra-compact RunOne Electrophoresis System with built-in power supply, MultiCaster Systems for casting agarose gels, ViewOne LabLite for backlighting samples, LightOne Illuminator pipette-aids for error-free 96/384-well setup and the PrepOne Sapphire for direct visualization of DNA gels without UV.
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Q DNASTAR, Inc. ...........................................418 Email:
[email protected] URL: http://www.dnastar.com
Edico Genome is developing DRAGEN, the world’s first “in-sequencer” NGS bio-it processor that radically reduces the computational cost of the NGS data analysis pipeline by replacing expensive servers and associated operational costs. DRAGEN can analyze 50 whole genome sequences, from FASTQ to VCF, with improved accuracy in less than a day.
214 EXHIBITORS Q EMD Millipore .......................................... 1120 Email:
[email protected] URL: http://www.emdmillipore.com
Q EpigenDx, Inc .............................................737 Email:
[email protected] URL: http://www.epigendx.com
EMD Millipore is the Life Science division of Merck KGaA, Germany, supporting research, development and production of biotech and pharmaceutical therapies. We support our customers with technologies for insightful cellular analysis, multianalyte network elucidation and functional genomics, including novel SmartFlare™ probes for RNA detection in live cells.
EpigenDx is a leading epigenomic research company dedicated to providing superior products and laboratory services. Our technical expertise and focus on quality and rapid turnaround time have made us a dependable partner to our customers worldwide since 2006. Services include targeted gene DNA methylation analysis using Pyrosequencing and NextGen Sequencing.
Q Emory Genetics Laboratory ......................912 URL: http://www.geneticslab.emory.edu
Emory Genetics Laboratory (EGL) is an academic, not-for-profit organization and a global leader in genetic testing. Associated with the prestigious Emory University School of Medicine, EGL has fully integrated biochemical, cytogenetics, and molecular laboratories, employing the latest technologies for one of the most comprehensive genetic test menus available. Q Enzo Life Sciences, Inc. ............................133 Email:
[email protected] URL: http:///www.enzolifesciences.com
Enzo Life Sciences, Inc. is organized to lead in the development, production, marketing, and sales of innovative life science research reagents worldwide. Our experience spans 30 years focused on building strong international market recognition. We are a proven leader in labeling and detection technologies across research and diagnostic markets. Q Enzymatics, Inc. .........................................837 Email:
[email protected] URL: http://www.enzymatics.com
Enzymatics is a leading producer of sample preparation reagents, assays, kits and software for life science research and applied science customers worldwide. We are experts in the fields of DNA sequencing and PCR, and our business units include: Reagents, Supply Chain Solutions, and NGS Sequencing Applications.
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Q Epigentek Group Inc..................................141 Email:
[email protected] URL: http://www.epigentek.com
Epigentek is the leading provider of epigenetic assay kits, antibodies, reagents, and services through a complete and systematic approach. It is the first and only company to specialize exclusively in epigenetics and has pioneered the commercialization of many technologies commonly used today in DNA methylation, histone modification, and chromatin studies. Q European Human Genetics Conference 2015........................................ 1625 Email:
[email protected] URL: http://www.eshg.org/eshg2015
The European Human Genetics Conference 2015 will be held in Glasgow, United Kingdom from June 6 June 9, 2015. Please visit our booth for more information and ESHG membership application. To view the conference program, details on abstract submission, and for online registration visit our website. Q Expression Analysis ..................................918 URL: http://www.expressionanalysis.com
EA provides cutting-edge genomic sequencing, gene expression, genotyping, and bioinformatics services to global pharmaceutical companies, diagnostic test developers, government agencies, and academic labs. EA conducts every project under clinical-grade quality control and offers the bioinformatics expertise and computational infrastructure to process enormous volumes of genomic data with consistency and speed.
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Q FDNA Inc.................................................. 1035 Email:
[email protected] URL: http://www.fdna.com
Q FSHD Champions ................................... 1818 Email:
[email protected] URL: http://www.fshsociety.org
FDNA’s mission is to save lives and improve the quality of life of patients with rare or difficult-todiagnose genetic syndromes. FDNA has developed the proprietary Facial Dysmorphology Novel Analysis (FDNA) technology. This cutting-edge technology facilitates the detection of facial dysmorphic features and recognizable patterns of human malformations from facial photos.
We are a federation of organizations from around the world working together to raise awareness and funding for research on facioscapulohumeral muscular dystrophy (FSHD).
Q Fluidigm Corporation ............................. 1123 Email: events@fluidigm.com URL: http://www.fluidigm.com
Q FLUIDX ..................................................... 1836 Email: elise.williams@fluidx.us URL: http://www.fluidx.eu
FluidX sells specialized storage and tracking products we were the first to introduce 2D-Coded Tubes back in 1999 and then introduced the world’s very first reader capable of reading a whole rack of 96 tubes. We now offer a very comprehensive range of 2D coded tubes, bar code readers, and unique decapper/recapper units. Q Fluxion Biosciences ..................................940 Email: info@fluxionbio.com URL: http://www.fluxionbio.com
Fluxion Biosciences provides cell analysis tools for use in life science, drug discovery, and diagnostic applications. The IsoFlux System provides a platform for running genomic analysis, including NGS and qPCR, starting with only a blood sample. For more information about Fluxion Biosciences, visit www. fluxionbio.com. Q Formulatrix .................................................739 Email:
[email protected] URL: http://www.formulatrix.com
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Fulgent Diagnostics is dedicated to providing superior, comprehensive, low cost and fast turnaround molecular genetics testing for healthcare providers and pharmaceutical clients. We offer clinical exome and over 100 disease-focused panels using next generation technologies for common or rare genetic disorders. Q GE Healthcare ............................................520 Email:
[email protected] URL: http://www.clarientinc.com
GE Healthcare, Biopharma Services provides expert research services, biomarker discovery, assay development as well as clinical trial testing solutions to its academic, biotechnology and pharmaceutical partners. From discovery through submission, we offer services ranging from next-generation sequencing to state-of-the-art pathology testing in our clinical laboratories, including full data analytics to capture the complete biopicture. Q GENALICE ............................................... 2032 Email:
[email protected] URL: http://www.genalice.com
GENALICE is a highly innovative biomedical big data company, with global headquarters in the Netherlands. GENALICE designs and builds groundbreaking software solutions for ultra-fast, highly accurate and cost-effective DNA data processing and analysis on general purpose hardware. Q Gene by Gene, LTD. ...................................620 Email:
[email protected] URL: http://www.genebygene.com/
Gene By Gene delivers cutting-edge genetic testing services with a state-of-the-art, CAP accredited laboratory and powerful bioinformatics. With products ranging from clinical carrier screening and whole exome sequencing to ancestry and genealogy tests, Gene By Gene has the answers to your genetic testing needs.
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Formulatrix, Inc. is excited to announce our digital PCR and quantitative PCR technology and debut it at ASHG. Formulatrix, Inc. was established in 2002 to provide protein crystallization automation solutions and microfluidic liquid handlers to commercial and academic labs worldwide.
Q Fulgent Diagnostics...................................638 Email:
[email protected] URL: http://www.fulgentdiagnostics.com
216 EXHIBITORS Q Gene Codes Corporation ..........................717 Email:
[email protected] URL: http://www.genecodes.com
Q Gene Tests ............................................... 316 Email:
[email protected] URL: http://www.genetests.com
Gene Codes Corporation develops Sequencher®, DNA sequence analysis software for Sanger and NGS data sets. Scientists all over the world rely on Sequencher’s intuitive user interface, impressive array of alignment algorithms, and powerful SNP discovery tools to deliver results. The latest release of Sequencher will redefine how you analyze data.
GeneTests, an online medical genetics information resource comprises: a Laboratory Directory of > 600 international laboratories offering molecular genetic testing, biochemical genetic testing, and specialized cytogenetic testing for > 3000 inherited disorders, and a Clinic Directory of >1000 international genetics clinics providing diagnosis and genetic counseling services.
Q GeneDx .......................................................522 Email:
[email protected] URL: http://www.genedx.com
GeneDx is highly respected laboratory specializing in genetic testing for rare Mendelian disorders. GeneDx offers sequencing and deletion/duplication testing for inherited cardiac disorders, mitochondrial disorders, neurological disorders, inherited cancer disorders, prenatal disorders, and other rare genetic disorders. GeneDx also offers whole exome sequencing, next-generation, and microarray-based testing. Visit GeneDx.com Q GeneInsight ............................................. 1622 Email:
[email protected] URL: http://www.geneinsight.com
GeneInsight Suite is an IT platform developed at Partners HealthCare to streamline the analysis, interpretation and reporting of complex genetic data and facilitates delivery of test results to treating clinicians. The application consists of a laboratory knowledge management tool, clinician access application and network infrastructure to enable data sharing. Q GeneReviews .......................................... 1317 Email:
[email protected] URL: http://www.genereviews.org
GeneReviews, provides free, expert-authored, peerreviewed medical genetics information for physicians, clinicians and researchers that is focused on clinically relevant and medically actionable information regarding the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Funded by contract from NIH, sponsored by University of Washington, Seattle.
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Q Genetic Engineering & Biotechnology News ........................................................... 1112 Email:
[email protected] URL: http://www.genengnews.com
Genetic Engineering and Biotechnology News (GEN) is the longest-running, most widely read, and largest circulated global biotechnology news publication. Published 21 times a year and recently redesigned to focus on Biobusiness, OMICS, Drug Discovery, Bioprocessing, and Translational Medicine, GEN reports on key news developments and technology trends in the bioindustry. Q Genetic Information Management Systems ...................................................... 1214 Email:
[email protected] URL: http://www.gimscorp.com
The LabDirector laboratory information system delivers a suite of powerful and innovative tools for managing the complex data and workflows in genetic and genomic laboratories. LabDirector can be deployed as a complete end-to-end LIS solution or as middleware, automating laboratory processes and interfacing seamlessly with instruments and other information systems. Q Genetics Society of America/G3 - Genes, Genomes, Genetics ................................... 1824 Email:
[email protected] URL: http://www.g3journal.org
Genetics Society of America includes 5,000 researchers and educators. GSA publishes GENETICS and G3:Genes|Genomes|Genetics, both with ~one month to first decision. Open-Access G3 publishes highquality foundational research and useful genetic and genomic information. Visit Booth 1824 to chat about our journals’ focus on human and population genetics, educational Primers, & more.
EXHIBITORS Q Gene Tools, LLC ...................................... 1212 Email:
[email protected] URL: http://www.gene-tools.com
Gene Tools manufactures Morpholino oligos for blocking translation, modifying splicing or inhibiting miRNA activity. Morpholinos are used in cell cultures, embryos or, as Vivo-Morpholinos, in adult animals. Morpholinos are effective, specific, stable and nontoxic. Backed by Ph.D.-level customer support, Gene Tools designs and synthesizes Morpholinos and offers cytosolic delivery options. Q Genial Genetic Solutions/Rainbow Scientific, Inc. ...............................................421 Email: info@rainbowscientific.com URL: http://www.genialgenetics.com
Genial Genetics offers the robotic MultiPrep Genie and Cell Sprint Harvesting systems for both surface culture and suspension culture harvesting. Our ProCell cytogenetic reagents yield high quality cytogenetic preparations. Our suite of genetic database software products including Shire, iGene and iPassport QMS, offer integrated multi-discipline genetic patient management with excellent auditing and document/process control capabilities. Q GenoLogics ................................................722 Email:
[email protected] URL: http://www.genologics.com
GenoLogics is a leading provider of laboratory information management system (LIMS) software designed for use with genomics and mass spec technologies in regulated and research labs. Clarity LIMS offers quick implementation, an intuitive interface and features that makes it a valuable investment for labs utilizing NGS and other -omics technologies. Q Genomatix Software ............................... 1216 Email:
[email protected] URL: http://www.genomatix.com
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Q Genome Diagnostics Nijmegen ............. 1721 Email:
[email protected] URL: http://www.genomediagnosticsnijmegen.nl/
Genome Diagnostics Nijmegen (Radboud University Medical Centre, the Netherlands) offers high quality diagnostics of genetic disorders (>425 disorders and >800 genes). The main diagnostic services offered are: Single Gene Diagnostics, Gene Panels, Exome Sequencing Diagnostics (including a full clinical report) and Diagnostic Interpretation of Exome Data. Q Genzyme, a Sanofi Company ................ 613 Email:
[email protected] URL: http://www.genzyme.com
Genzyme has pioneered the development and delivery of transformative therapies for patients affected by rare and debilitating diseases for over 30 years. With a focus on rare diseases and multiple sclerosis, we are dedicated to making a positive impact on the lives of the patients and families we serve. Visit www. genzyme.com. Q Globus Genomics ......................................525 Email:
[email protected] URL: http://globus.org/genomics/
Globus Genomics enables large-scale genomics analysis. It combines a powerful graphical workflow environment with state-of-the-art algorithms, advanced data management capabilities, and a cloud-based elastic computational infrastructure. You can easily and securely discover, move, analyze, share, curate, and publish big data using just a web browser. Q Golden Helix, Inc. .................................... 422 Email:
[email protected] URL: http://www.goldenhelix.com
Golden Helix enables the genetics research and translational genomics community with its high quality analytics software solutions. Its products are used by thousands in research organizations, as well as pharma and biotech companies around the globe. The company’s products have been cited in over 850 peer reviewed articles.
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Genomatix® is a computational biology company with excellent science. Having accumulated extensive data content and software applications for the understanding of gene regulation for over 15 years, we now provide a comprehensive, integrated analysis solution for all NGS applications, including rapid variant analysis of clinical samples and physician report generation.
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218 EXHIBITORS Q Greenwood Genetic Center ................... 1015 Email:
[email protected] URL: http://www.ggc.org
The Greenwood Genetic Center is a nonprofit institute organized to provide clinical genetic services, diagnostic laboratory testing, educational resources, and research in the field of medical genetics. Our laboratory offers biochemical, cytogenetic, and molecular diagnostic testing. We strive to Give Greater Care by combining state-of-the-art diagnostics with exceptional service. Q Hamilton Company ....................................232 Email:
[email protected] URL: http://www.hamiltonrobotics.com
Hamilton is a leading manufacturer of manual, semiautomated and robotic products for precision fluid measuring. Hamilton’s VANTAGE,STAR and NIMBUS lines offer innovative solutions for a wide range of applications. With superior air displacement pipetting technology at their core, our automated platforms provide reliable and highly reproducible solutions.
Hitachi .........................................................839 Email:
[email protected] URL: http://www.inspirethegenome.com Q
HITACHI has partnered with OpGen, Inc. to provide a secure, highly automated, cloud-based analytical platform for structural variation detection for whole genome and individual chromosome analysis. We will demonstrate the results of several studies that have been run through this state-of-the-art platform. Q Human Variome Project Int. Ltd ............ 1823 Email:
[email protected] URL: http://www.humanvariomeproject.org
The Human Variome Project is an international consortium of individuals who are working towards reducing the burden of genetic disease. The aim of the Human Variome Project is to ensure that all information on genetic variation can be collected, curated, interpreted and shared freely and openly with the world. Q Hunter in Focus - A Positive Exposure Project ..........................................Sails Pavilion
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Q Hussman Institute for Human Genomics – Center for Genome Technology at U.Miami.............................. 1918 Email:
[email protected] URL: http://hihg.med.miami.edu/CGT
The Center for Genome Technology, a high-throughput genomics core facility at University of Miami’s John P. Hussman Institute for Human Genomics, specializes in exome/genome, targeted capture, RNA sequencing, genotyping and biobanking. Now offering their expertise to the research community, enabling low-cost, high-quality data, competitive turnaround times and one-on-one customer service. Q Hyperion Therapeutics ..............................838 Email:
[email protected] URL: http://www.hyperiontx.com
Q ICHG 2016................................................ 1819 Email:
[email protected] URL: http://www.ichg2016.org
The International Congress of Human Genetics (ICHG) has been held every five years. The next ICHG2016 meeting will be hosted by the East Asian Union of Human Genetics Societies and Japan Society of Human Genetics. Registration/Abstract Submissions will start in June 2015. Join us in Kyoto, Japan, for ICHG2016! Q Illumina, Inc. ...............................................721 Email:
[email protected] URL: http://www.illumina.com
Illumina® provides innovative sequencing and array-based solutions for genotyping, copy number variation analysis, methylation studies, gene expression profiling, and low-multiplex analysis of DNA, RNA, and protein. We also provide tools and services that are fueling advances in consumer genomics and diagnostics; paving the way for molecular medicine and ultimately transforming healthcare. Q infoQuant ....................................................340 Email:
[email protected] URL: http://www.infoquant.com
infoQuant is the leading provider of software solutions for DNA Copy Number and LOH analysis in clinical genetics. The company is dedicated to helping clinicians and researchers with its accurate and fully automated analysis of clinical array and sequencing data and intuitive laboratory-wide high-resolution array/ sequencing data management.
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Q Integrated DNA Technologies, Inc. ....... 1137 Email:
[email protected] URL: http://www.idtdna.com
Q Invivoscribe Technologies ........................414 Email:
[email protected] URL: http://www.invivoscribe.com
Integrated DNA Technologies (IDT) is a leader in custom biology for the research and diagnostic life science market and serves academic research, biotechnology, and pharmaceutical development. Products include DNA oligos, qPCR assays, and custom gene synthesis to support many applications such as DNA sequencing, SNP detection, and functional genomics.
Invivoscribe® (invivoscribe.com) manufactures a range of cGMP gold standard tests, reagents, and controls for the detection of gene rearrangements, gene mutations, and chromosome translocations associated with lymphoproliferative disease and hematologic malignancies. Invivoscribe now offers a range of NGS-based products for clonality and minimal residual disease testing.
Q Integrated Genetics/LabCorp...................131 URL: http://www.integratedgenetics.com
Integrated Genetics is a leading provider of reproductive genetic testing services driven by its commitment to physicians and their patients. With an expansive menu of complex tests and technologies, Integrated Genetics spans the continuum of care from prenatal diagnostics to the largest commercial genetic counseling network in the laboratory industry. www. integratedgenetics.com. Q Interactive Biosoftware .............................225 Email:
[email protected] URL: http://www.interactive-biosoftware.com
Interactive Biosoftware is the creator of Alamut® Visual, the original mutation interpretation software: simplifying the mutation interpretation process, saving scientists time, improving outcome quality and enhancing productivity are its main strengths. A newly developed software, Alamut® Batch, for high throughput annotation, is an essential tool in the NGS era.
Q The Scientist ........................................... 1921 Email:
[email protected] URL: http://www.the-scientist.com
The Scientist is a publication dedicated to covering a wide range of topics central to the study of cell and molecular biology, genetics, and other life science fields. Through innovative articles, online stories, and multimedia features, the magazine explores the latest scientific discoveries, trends in research and innovative techniques. Q JAMA Network ........................................ 1313 Email:
[email protected] URL: http://www.jamanetwork.com
Building on a tradition of editorial excellence, The JAMA Network brings JAMA together with nine specialty journals to offer enhanced access to the research, viewpoints, and medical news shaping medicine today and into the future. JAMA is one of the most widely circulated, peer-reviewed, general medical journals in the world.
Q Invitae .........................................................913 Email:
[email protected] URL: http://www.invitae.com
Q JMP Division of SAS Institute Inc. ......... 1017 Email:
[email protected] URL: http://www.jmp.com
Invitae, a genetic information company, is aggregating the worlds genetic tests into a single service with better quality, faster turnaround time and lower price than most single-gene tests today. Our mission is to bring genetic information into routine medical practice to improve the quality of healthcare for billions of people.
JMP® Clinical and JMP® Genomics are the life sciences software products that combine sophisticated JMP graphics with rigorous SAS® Analytics. This integration yields graphical representations of life sciences data that reveal context and insight impossible to see in spreadsheets while allowing unique and easy access to the statistical details.
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220 EXHIBITORS Q JN Medsys ..................................................640 Email:
[email protected] URL: http://www.jnmedsys.com
Q KromaTiD .................................................. 736 Email:
[email protected] URL: http://www.kromatid.com
JN Medsys is a life science company driven by the desire to make complex genomics tools such as digital PCR accessible to more people. Through innovation, we deliver simplified solutions to achieve better performance at greater affordability. Our purpose is to make lives better through superior products and outstanding service.
KromaTiD’s molecular cytogenetic andGeneTracker®assays discover,detect and diagnose the widest range of disease causing mutations - including inversions and translocations-in a single test. Based on directional genomic hybridization (dGH), KromaTiD’s assays generate sequence, location and orientation data from single cells, making them ideal for mixed cell population studies.
Q JSI medical systems GmbH ..................... 324 Email:
[email protected] URL: http://www.JSI-medisys.com
JSI medical systems with US office in Costa Mesa, CA is located in the Black Forest area at southwest of Germany. Our software SEQUENCE Pilot is the leading product for the analysis of next generation sequencing (including HLA), conventional sequencing, Affymetrix chip resequencing, HLA SBT, and MLPA data. Q Kapa Biosystems Inc.............................. 1117 Email:
[email protected] URL: http://www.kapabiosystems.com
Kapa Biosystems is a life science reagents supplier that employs proprietary, directed evolution technologies to optimize enzymes for PCR, real-time PCR, next generation sequencing and molecular diagnostic applications. Kapa Biosystems offers a portfolio of best-in-class products containing novel enzymes that confer significant performance advantages when compared to traditional wild-type enzymes. Q Knome, Inc. ............................................. 1618 Email:
[email protected] URL: http://www.knome.com
Knome Inc. is a leading provider of human genome interpretation systems and services. Knome provides tools that help researchers, drug developers, and clinicians determine the genetic basis of human disease and drug response. Designed to accelerate the process of interpreting whole genomes, Knome’s technologies are enabling the healthcare industry’s transition to precision medicine.
Q Lab7 Systems, Inc. ................................. 1839 Email:
[email protected] URL: http://www.lab7.io
The Lab7 Enterprise Sequencing Platform (ESP) from Lab7 Systems is the industry’s only fully-comprehensive sample-to-answer data management software for NGS laboratories, incorporating auditable sample management and protocol workflows with data analysis, reporting, and visualization. The Lab7 ESP works with all sequencing platforms and can be deployed on any compute infrastructure. Q Labcyte Inc. ............................................. 1830 Email:
[email protected] URL: http://www.labcyte.com
Q Laboratory for Molecular Medicine, Partners ...................................................... 1115 Email:
[email protected] URL: http://www.partners.org/personalizedmedicine/lmm
The Laboratory for Molecular Medicine, a CLIA-certified molecular diagnostic laboratory within Partners HealthCare Personalized Medicine, translates genetic discoveries into clinical tests with a focus on next generation sequencing technologies. Testing areas include disease-targeted panels, clinical genome and exome sequencing with interpretation services provided by experts. Q Labroots .................................................. 1318 Email:
[email protected] URL: http://labroots.com/
LabRoots is the leading professional networking website designed to connect all science verticals through a myriad of unique features and tools across geographic boundaries and fields of expertise. LabRoots is the owner of BioConference Live - the world’s largest producer of scientific virtual events.
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221
Q LabWare, Inc. ............................................ 224 Email:
[email protected] URL: http://www.labware.com
Q Lexogen GmbH ....................................... 1140 Email:
[email protected] URL: http://www.lexogen.com
LabWare is recognized as the global leader in providing enterprise-scale Laboratory Information Management Systems (LIMS) and ELN solutions. Our Enterprise Laboratory Platform combines the awardwinning LabWare LIMS solution with LabWare ELN, a comprehensive Electronic Laboratory Notebook application, enabling companies to optimize compliance, improve quality, increase productivity and reduce costs.
Lexogen is a transcriptomics and next generation sequencing (NGS) company, focusing on the development of technologies for a complete transcriptome sequencing. Lexogen’s portfolio includes library preparation kits for sequencing of coding as well as non-coding RNA.
Q Lathrop Engineering Inc......................... 1030 Email:
[email protected] URL: http://www.lathropengineering.com
Lathrop is a contract product development company specializing in instrumentation and consumables for life science and diagnostic markets. We provide onestop engineering and design solutions from concept through to manufacturing providing a seamless, painless transition for our clients. Technical expertise includes: microfluidics, fluidics, optics, electronics, systems integration, robotics, automation. ISO9001
LC Sciences ............................................ 1925 Email:
[email protected] URL: http://www.lcsciences.com Q
LC Sciences develops technologies and provides services for genomics and transcriptomics discoveries. Our new game-changing VariantPro™ technology is the only multiplex PCR based targeted sequencing method that solves inherent issues such as primer induced variation in coverage with a one-step innovative relay-PCR solution. Q Leica Biosystems...................................... 433 Email:
[email protected] URL: http://www.leicabiosystems.com
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LGC is unique in the genomics market place with respect to our position both as a laboratory services provider and a developer of proprietary chemistries and instrumentation to drive cost efficient genomics solutions. “We use what we sell and sell what we use.” Q Life & Brain GmbH .................................. 2020 Email:
[email protected] URL: http://www.lifeandbrain.com/
LIFE&BRAIN is a biomedical enterprise located in Bonn, Germany. Integrating a unique set of academic and commercial expertise in Cellomics, Genomics and Neurocognition, LIFE&BRAIN aims at delivering the next generation of products for stem cell engineering and is a leading European service provider for the generation and interpretation of omics data. Q Liferiver Bio-Tech Corp. ......................... 1314 Email:
[email protected] URL: http://en.liferiver.com.cn
Liferiver is a high-tech enterprise that focuses on developing, manufacturing and selling of real time PCR kit and instrument. Now there are over 300 kinds of PCR reagents across the following 11 series, which cover almost every infectious disease and even certain animal diseases. Q Life Technologies ...................................... 513 Email:
[email protected] URL: http://www.lifetechnologies.com
Life TechnologiesTM products harness the power of science to transform lives. As a member of the Thermo Fisher Scientific family of brands, our instruments, everyday tools, and services offer high-quality, innovative life science solutions for every lab and application. Go to our website to learn more.
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Advance your Cytogenetics workflow with Leica Biosystems. Proudly offering end-to-end solutions that include broadest range Kreatech™ FISH Probes, fully automated slide processing with ThermoBrite® Elite, and the scalable brightfield and fluorescent sample analysis CytoVision® platform for a truly integrated solution that ranges from single workstations to fully networked configurations.
Q LGC .......................................................... 1931 Email:
[email protected] URL: http://Lgcgroup.com/genomics
222 EXHIBITORS Q Macrogen Clinical Laboratory ............... 1130 Email:
[email protected] URL: http://www.macrogenlab.com
Q MedGenome Inc. ...................................... 137 Email:
[email protected] URL: http://www.medgenome.com
Macrogen has been the corporate partner of choice on genomic sequencing for many academic and commercial organizations. Our superior quality, cost effective business model and customer focused services allowed us to expand and grow into an international organization. Our seventeen years of sequencing experience uniquely position us to contribute to the next generation genomic sequencing.
MedGenome strives to diagnose molecular genetics basis of complex diseases by applying advanced sequencing and other established clinical technologies. MedGenome’s flagship product OncoMD assists clinical decision making and personalization of therapy by linking patients tumor mutation profile with oncogenic processes, approved drugs and open clinical trials.
Q MagBio Genomics, Inc. .......................... 1518 Email:
[email protected] URL: http://www.magbiogenomics.com
Q MediSapiens Inc. .................................... 1523 Email:
[email protected] URL: http://www.medisapiens.com
MagBio Genomics offers targeted and costeffective magnetic bead-based sample cleanup products targeting NGS, Sanger sequencing and library preparation. Our mission is to help our customers generate quality data faster at a lower cost.
MediSapiens provides drug discovery and development with tools that help in designing more effective personalized drugs against life-threatening diseases. We create powerful and intuitive software and customized informatics solutions that provide scientists with a way to quickly analyze and visualize vast amounts of data an turn it into knowledge that fuels innovation.
Q Maverix Biomics, Inc. ............................... 319 Email:
[email protected] URL: http://www.maverixbio.com
Maverix Biomics, Inc. provides researchers with a cloud-based platform integrating best-in-class tools to manage, analyze, and visualize genomic and expression data in context with private and public databases. The Maverix Analytic Platform supports building new Communities of Discovery across human, plant, animal, and microbial species. Q Mawi DNA Technologies .......................... 233 Email:
[email protected] URL: http://www.mawidna.com
Mawi has developed the iSWAB system, a non-invasive sample collection method delivering 10 - 30ug of DNA with less than 1% bacterial contamination. Samples can be easily collected from any population segment including infants and elderly and also animals. Ambient stability and reduced processing time yields significant cost savings. Q McGraw-Hill Medical ................................ 216 Email:
[email protected] URL: http://www.mcgrawhillmedical.com
As one of the world’s premier medical publishers, McGraw-Hill Medical provides geneticists, researchers, educators, and students with access to Scrivers OMMBID, the unparalleled online resource for genetic contribution to health and disease, as well as information for the broader medical world. Visit: www. ommbid.com, www.accessmedicine.com, and www. accesspediatrics.com to learn more. = First time exhibitor Shaded = Meeting Supporter
Q MetaSystems .......................................... 1033 Email:
[email protected] URL: http://www.metasystems.org
MetaSystems provides fast, easy-to-use genetic imaging and high-throughput slide scanning systems: ikaros automatic karyotyping system, isis FISH imaging systems, CGH, mFISH,high resolution color and banding analysis, and metafer scanning system for fully automatic slide analysis, spot counting, rare cell detection, metaphase search, and array analysis. We offer XCyte DNA probes. Q Mount Sinai Genetic Testing Laboratory .................................................. 740 Email:
[email protected] URL: http://icahn.mssm.edu/research/labs/ genetic-testing-laboratory
Mount Sinai Genetic Testing Laboratory offers a comprehensive testing menu including molecular, cytogenetic and biochemical analyses in our CLIA-certified, NY state approved and CAP accredited facility. Our team of laboratory directors, genetic counselors, account managers, and client service representatives provide superior service and state-of-the art testing.
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223
Q MRC-Holland........................................... 1031 Email:
[email protected] URL: http://www.mlpa.com
Q Nature Publishing Group ........................ 1321 Email:
[email protected] URL: http://www.nature.com
MLPA ® is a rapid, high-throughput technique for copy number quantification and methylation status analysis of genomic sequences. MRC-Holland offers hundreds of MLPA probe sets. Applications include: congenital & hereditary disorders, tumor profiling and methylation profiling.
Nature Publishing Group (NPG) produces scientific information for researchers and the scientifically interested general public. Each month our high-impact journals, open access titles, news, apps, conferences and job listings help over 9 million users to advance their research, reputation, careers and knowledge. Part of Macmillan Science and Education.
Q MYcroarray .............................................. 1522 Email:
[email protected] URL: http://www.mycroarray.com
MYcroarray is a leading manufacturer of custom molecular probes for genomic applications including capture baits libraries for targeted sequencing, fluorescent probes libraries, oligonucleotide libraries and oligonucleotide microarrays. We are the only provider of truly error-free oligonucleotides for synthetic biology. We offer microarray hybridization, sequence capture and sequence discovery services.
Myriad Genetic Laboratories ................. 1930 Email:
[email protected] URL: http://www.myriadpro.com Q
Q NBSTRN/NCC ......................................... 1725 Email:
[email protected] URL: http://https://www.nbstrn.org/
The Newborn Screening Translational Research Network (NBSTRN) and the National Coordinating Center for the Regional Genetic Service Collaboratives (NCC) will be sharing excellent resources available for researchers, healthcare providers, public health professionals and consumers. Q NeuroScience, Inc .................................... 123 Email:
[email protected] URL: http://www.neuroscienceinc.com
NeuroScience is committed to personalized health care solutions. We provide sophisticated neurologic, immune and hormone laboratory testing, as well as proprietary nutraceuticals that target identified imbalances. We bring everything together for the practitioner with our “assess & address” approach. For more information, call: 1-888-342-7272
Q NanoString Technologies, Inc. ................ 413 Email:
[email protected] URL: http://www.nanostring.com
Q New England Biolabs, Inc. ....................... 533 Email:
[email protected] URL: http://www.neb.com
NanoString Technologies is a provider of life science tools for translational research and developer of molecular diagnostic products. The company’s nCounter® Analysis System delivers highlymultiplexed, direct profiling of individual molecules in a single reaction without amplification. Applications include Gene Expression, Single-Cell, miRNA and CNV.
New England Biolabs, Inc. leads the industry in the discovery and production of enzymes for molecular biology applications, including sample preparation for next-generation sequencing. NEB’s global reputation for manufacturing products of the highest quality, coupled with best-in-class technical support, makes NEB the first choice for optimized reagents for advanced technologies.
Q Natera ........................................................ 330 Email:
[email protected] URL: http://www.panoramatest.com/
Q Nextcode Health ..................................... 1213 Email:
[email protected] URL: http://www.nextcode.com
In late 2012 Natera announced The PanoramaTM Test, the most accurate and comprehensive noninvasive prenatal test available. Natera has a history off proven excellence in reproductive genetic testing having previously launched preimplantation genetic diagnosis (PGD) for IVF, carrier screening and the only prenatal non-invasive paternity test. Visit www. panoramatest.com for additional information.
NextCODE offers the world’s most proven and powerful solutions for analyzing whole-genome data. Our systems enable you to store, query and visualize raw sequence data on one patient or ten thousand, harnessing the entire genome to better diagnose and treat disease - in real time, right from your desktop.
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Myriad Genetics is a leading molecular diagnostic company dedicated to making a difference in patients lives through the discovery and commercialization of transformative tests to assess a persons risk of developing disease, guide treatment decisions and assess risk of disease progression and recurrence.
224 EXHIBITORS Q NHLBI Resequencing & Genotyping Service ........................................................ 1822 Email:
[email protected] URL: http://rsng.nhlbi.nih.gov/
NHLBI has funded the renewal of the Resequencing and Genotyping (RS&G) Service to continue providing custom DNA RS&G services at no charge to qualifying investigators. The Service is now open for pilot projects on non-human models.
Norgen Biotek Corp.................................. 741 Email:
[email protected] URL: http://www.norgenbiotek.com Q
Norgen Biotek provides researchers with innovative kits for Molecular Diagnostics (MDx), Sample Collection/Preservation [from Urine, Stool, Plasma/Serum/ Blood, Saliva] and microRNA/RNA/DNA/Protein Purification/Clean-Up (spin-column/96-well). Our kits feature exceptional quality, ease-of-use and sensitivity. Norgen Biotek provides researchers with the tools to address any sample preservation and preparation challenge.
Oasis Diagnostics Corporation ............. 1620 Email:
[email protected] URL: http://www.4saliva.com Q
Oasis Diagnostics provides a series of tools for noninvasive collection of nucleic acids [DNA, RNA] from saliva specimens. The Company also offers blood and tissue based genomic [PCR] tests for PGx and susceptibility testing that have been validated to saliva specimens. Additional saliva collection tools for drugs, steroids and a point of care device available Q Omega Bio-Tek, Inc. ............................... 1039 Email:
[email protected] URL: http://www.omegabiotek.com
Q Omicia ........................................................ 236 Email:
[email protected] URL: http://www.omicia.com
Omicia’s market-leading platform for fast, accurate and flexible genome analysis allows users to derive and report on clinically relevant insights from genomic data. Researchers and clinical diagnostic organizations use our solutions to identify the genetic basis of a variety of conditions including childhood disease and cancer to improve disease management and medical outcomes.
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Q ORPHANET.............................................. 1720 Email:
[email protected] URL: http://www.orpha.net
Orphanet endeavours to provide the community at large with a comprehensive set of information on rare diseases and orphan drugs in order to contribute to the improvement of the diagnosis, care, and treatment of patients with rare diseases. Q Oxford Gene Technology ......................... 320 Email:
[email protected] URL: http://www.ogt.com
Oxford Gene Technology (OGT) provides worldclass genetics research solutions to leading clinical and academic research institutions worldwide. The Company’s range of Cytocell® fluorescence in situ hybridisation (FISH), CytoSure™ microarray and SureSeq™ next generation sequencing (NGS) products and Genefficency™ services deliver high-quality genetic analysis, enabling accurate identification of the causative variation underlying genetic disease. Q Oxford Nanopore Technologies Ltd ............................................1141, 1239, 1240 Email:
[email protected] URL: http://www.nanoporetech.com
Oxford Nanopore Technologies is developing a new generation of nanopore-based sensing technologies for analysis of DNA, RNA and proteins. The MinION™ device and GridION™ system are designed to provide novel qualities in molecular sensing. They may be used in scientific research, personalised medicine, crop science, security, and environmental applications. Q Oxford University Press ......................... 1412 Email:
[email protected] URL: http://www.oup.com/us
Q Pacific Biosciences .................................. 931 Email: info@pacificbiosciences.com URL: http://www.pacificbiosciences.com/
The PacBio® RS II Sequencer enables scientists to study novel genetic variation from DNA and RNA samples. Single Molecule, Real-Time (SMRT®) technology provides the longest read lengths available (>10kb to 50kb), optimal for de novo sequencing of structural variants, phasing of allele haplotypes, sequencing of full-length transcripts and discovery of novel genes and gene isoforms.
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225
Q Partek Incorporated ................................. 715 Email:
[email protected] URL: http://www.partek.com
Q Personome .............................................. 2008 Email:
[email protected] URL: http://www.personome.com
Partek provides software for next generation sequencing, microarray, and qPCR data analysis and visualization that empowers biologists to find biological meaning within their data. With an intuitive interface designed for researchers, Partek’s complete solution takes raw data to statistical and pathway analysis that allows true multi omics integration.
We are a Cancer genomics company. We provide Data Annotation and curation services in the area of Genomics. We also provide Mutation and Chemosenstivity profiling using our proprietary Cancer Analytics Platform, which generates the most comprehensive genomic information about a patient’s individual genome, enabling physicians to optimize treatments in clinical practice.
Q Pathway Genomics ................................. 1338 Email:
[email protected] URL: http://www.pathway.com
Pathway Genomics provides physicians with actionable genetic testing results on cancer risk, medication response, cardiac health, carrier screening, and weight management. Since its founding in 2008, Pathway Genomics has become known for its dedication to clinical innovation and commitment to medical responsibility – making it a leader in the commercial genetic testing industry. For more information, visit www.pathway.com. Q PerkinElmer, Inc. Life Sciences & Technology ................................................. 2022 Email:
[email protected] URL: http://www.PerkinElmer.com
Biological complexity raises questions requiring translational research from the well, to the cell, to the animal and back again. PerkinElmer enables you to approach your target from multiple perspectives: locate, detect and quantitate your biology of interest; analyze and understand it in wider physiological contexts. Q Personalis, Inc. ......................................... 639 Email:
[email protected] URL: http://www.personalis.com
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At Pfizer, we apply science and our global resources to bring therapies to people that extend and significantly improve their lives. Every day, Pfizer colleagues work across developed and emerging markets to advance wellness, prevention, treatments and cures that challenge the most feared diseases of our time. Q PhenX Toolkit .......................................... 1719 Email:
[email protected] URL: http://www.phenxtoolkit.org
The PhenX (consensus measures for Phenotypes and eXposures) Toolkit is a web-based catalog of well-established measures of phenotypes and exposures. The Toolkit provides detailed protocols for 339 measures across 22 research domains and tools to help investigators integrate PhenX measures into their studies, and to identify opportunities for cross-study analysis. Q PREMAITHA HEALTH ............................. 1520 Email:
[email protected] URL: http://www.premaitha.com
Premaitha is a molecular diagnostics company employing NGS technology to develop, manufacture and sell molecular diagnostic products intended to have a major beneficial impact on human health. The IONA test is the first non-invasive in vitro diagnostic product for prenatal screening, enabling clinical laboratories to perform the test in house.
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Personalis®, provider of the ACE Platform™, is an end-to-end genomics services company that gives researchers and clinicians the most accurate and comprehensive sequencing and interpretation solution. By utilizing unique and innovative manuallycurated databases, advanced human reference sequences, and sophisticated algorithms, we are able to analyze and produce publication-ready, clinicallyactionable results.
Q Pfizer ........................................................ 1121 Email: jeff.carson@pfizer.com URL: http://www.pfizer.com
226 EXHIBITORS Q PreventionGenetics LLC ........................ 1034 Email: clinicaldnatesting@preventiongenetics. com URL: http://https://www.preventiongenetics.com
PreventionGenetics is a leader in providing comprehensive clinical DNA testing offering NextGen Sequencing, Sanger sequencing and deletion/duplication testing via array CGH for over 1000 genes. Our team of geneticists provide fast turnaround times, outstanding personalized service and the highest quality testing at the lowest prices possible. PreventionGenetics is CLIA/CAP accredited.
Progeny Software, LLC ............................ 821 Email:
[email protected] URL: http://www.progenygenetics.com Q
Q QIAGEN Inc. .............................................. 831 Email:
[email protected] URL: http://www.qiagen.com
QIAGEN, the leading provider of Sample & Assay technologies, is launching a sample to insight NGS workflow to translate discoveries from bench to bedside. QIAGEN products/automated solutions provide precision applicable to any lab. QIAGEN makes significant contributions to global applications of science to real-life problems making improvements in life possible. Q RainDance Technologies, Inc. ............... 1236 Email:
[email protected] URL: http://www.RainDanceTech.com
Progeny provides family history, pedigree, sample and genetic data management software to clinicians, researchers and labs worldwide. Our Online Family History Questionnaire allows you to collect custom family history data and identify at-risk patients before the clinic visit - pedigrees are automatically drawn and integrated with your EMR.
RainDance Technologies is making complex genetics simple. The company’s ultra-sensitive genomic tools are leading to new non-invasive liquid biopsy applications for more accurate, reliable, cost-effective and early detection of cancer, inherited and infectious diseases. The company supports customers using RainDrop Digital PCR &ThunderStorm DNA Sequencing Systems.
Q Promega Corporation............................... 621 Email:
[email protected] URL: http://www.promega.com
Q Rare Disease Communications ............. 1424 Email:
[email protected] URL: http://www.rdr.com
As a world leader in applying genomics and cellular biology expertise to develop high value products for the Life Sciences, Promega Corporation understands that today’s Genomics challenges require creative solutions. Stop by our booth to learn more about successful approaches and tools for enabling your genomics research.
Rare Disease Communications is a website and weekly e-newsletter that offers an independent voice for the Rare Disease Community. It strives to bring together medical, scientific, investment, regulatory, and advocate professionals interested in rare diseases and orphan drugs.
Proove Biosciences, Inc......................... 1837 URL: http://www.ProoveBio.com Q
Proove Biosciences is the Personalized Pain Medicine Company. Our mission is to Change the Future of Medicine. Based in Southern California, Proove provides physicians with information to improve the selection, dosing, and evaluation of medications. Q QIAGEN Bioinformatics ............................ 936 Email:
[email protected] URL: http://www.clcbio.com
QIAGEN Bioinformatics is powered by CLC bio, Ingenuity, and Biobase. We offer bioinformatics software tools for next generation sequencing (NGS) data analysis and interpretation. Our solutions are designed to be universal, so you can mix and match the technologies best suited to your needs.
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Q ReachMD ................................................ 1441 URL: http://www.reachmd.com
ReachMD radio will be next to ASHG Central, and the radio hosts plan to interview attendees on a variety of topics ranging from hereditary cancers to the clinical implications of whole genome sequencing. Tell them what you think! Q Recordati Rare Diseases ....................... 1731 Email:
[email protected] URL: http://www.recordatirarediseases.com
Recordati Rare Diseases (RRD) Inc is a member of the Recordati Group, which consists of Recordati S.p.A. and Orphan Europe. RRD’s mission is to partner with patients, healthcare providers, advocacy and industry to make products available to treat rare and severe diseases.
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227
Q Regeneron Pharmaceuticals ................. 1519 Email:
[email protected] URL: http://www.regeneron.com
Q Sage Science Inc. ..................................... 935 Email:
[email protected] URL: http://www.sagescience.com
The Regeneron Genetics Center is a large-scale research organization that integrates high-throughput next-generation sequencing, world-class genome and clinical informatics, and novel cellular and animal modeling technologies to identify genetic factors affecting human diseases, guide the discovery and development of novel therapeutics, and improve healthcare outcomes.
Sage Science provides products for preparation of DNA and protein samples for life science research. Featuring the PippinTM targeted size selection and Sage ELFTM whole sample fractionation systems, the platforms automate preparative gel electrophoresis upstream of NGS and protein mass spec. Biomolecules are fractionated by size, and collected in buffer.
Retrophin, Inc.......................................... 2004 Email:
[email protected] URL: http://www.retrophin.com Q
Retrophin is a biopharmaceutical company focused on the discovery and development of drugs for the treatment of catastrophic diseases that are debilitating and often life-threatening, and for which there are currently limited patient options. Q Roche Diagnostics Corporation .............. 919 Email:
[email protected] URL: http://www.roche.com/
Roche offers an extensive portfolio of genomic technologies to support translational research. Solutions for Next Gen Sequencing, NimbleGen targeted enrichment, the LightCycler 96 system for qPCR, and the MagNA Pure 96 system for automated nucleic acid isolation help to make research decisions and laboratory processes easier, faster and more productive. Q RUCDR Infinite Biologics ....................... 1336 Email:
[email protected] URL: http://www.rucdr.org
By utilizing a technologically advanced infrastructure and the highest quality biomaterials, RUCDR has become a world leader in support of genetics research. RUCDR scientists work to convert precious biosamples into renewable resources thereby extending research capabilities. We offer comprehensive biobanking, sequencing, nucleic acid and functional analytics and stem cell services.
RURO’s LIMS, Sample Management, RFID and other solutions are able to manage and improve the dynamic work environment of Genomics Research laboratories, while also making them more connected to partners and collaborators. RURO solutions make more effective data input, access and sharing and streamline difficult or complex workflows through automation and a precise user experience. = First time exhibitor Shaded = Meeting Supporter
SCC Soft Computer’s comprehensive genetics information management suite offers a full range of genetics tools to automate workflow in the genetics laboratory. This suite is Web-accessible, and offers a selection of cytogenetics, molecular, flow cytometry, immunogenetics, diagnostic pathology, and biochemistry systems that are configurable allowing predefined or unique, user-defined protocols. Q Science/AAAS ........................................... 221 Email:
[email protected] URL: http://www.aaas.org
Since 1848, AAAS and its members have worked together to advance science and serve society. As part of these efforts, AAAS publishes Science, a multidisciplinary peer-reviewed journal, and offers programs focused on science policy, international cooperation, science education, diversity, and career development for scientists. Q SCIEX Separations, a part of AB SCIEX ...................................... 241 Email:
[email protected] URL: http://www.sciex.com/ce
AB SCIEX is expanding the power of CE and LC by combining the nano and micro liquid chromatography expertise of our Eksigent solutions and the microscale separation expertise from Beckman Coulter Life Sciences, to create the business unit known as SCIEX Separations. The GenomeLab GeXP™ Genetic Analysis System will be on display.
EXHIBITORS
Q RURO Inc. .................................................. 941 Email:
[email protected] URL: http://www.ruro.com
Q SCC Soft Computer .................................. 312 Email:
[email protected] URL: http://www.softcomputer.com
228 EXHIBITORS Q SciGene ..................................................... 423 Email:
[email protected] URL: http://www.scigene.com
SciGene automates FISH and CMA workflows to boost productivity, lower costs and reduce re-test rates. At ASHG, see the CytoBrite Slide Incubation System for hybridizing 1 to 12 FISH slides; CytoZyme Stabilized Pepsin for preparing tissue samples for hybridization with nucleic acid probes; and CytoBond Removable Coverslip Sealant for temporarily sealing slide coverslips without humidification.
Seven Bridges Genomics ......................... 518 Email:
[email protected] URL: http://www.sbgenomics.com Q
Seven Bridges Genomics delivers a secure and cost efficient cloud infrastructure that enables clients to design and execute complex next generation sequencing data analysis pipelines without the burdens of do-it-yourself command line bioinformatics. Our comprehensive and intuitive data exploration tools help you solve big data analytics problems with ease.
Shire ........................................................... 819 URL: http://www.shire.com Q
Shire develops and markets innovative specialty medicines to meet significant unmet patient needs, providing treatments in Neuroscience, Rare Diseases, Gastrointestinal, and Internal Medicine. Our goal is to enable people with life-altering conditions to lead better lives. Q SimulConsult, Inc...................................... 420 Email:
[email protected] URL: http://www.simulconsult.com
SimulConsult provides diagnostic decision support systems to clinicians and labs. SimulConsult’s Genome-Phenome Analyzer combines processing of a genomic variant table and comparison of the patients findings to those of known diseases (phenome). CLIA and research labs use it to assess in seconds “which of the potentially pathogenic genes and variants explain the patient’s findings.”
Q SoftGenetics, LLC..................................... 530 Email:
[email protected] URL: http://www.softgenetics.com
NextGENe software for analysis of all NGS data now including HLA, NIPT and Somatic Mutation Analysis modules; Geneticist Assistant NGS Workbench, a knowledge base for the archiving of variant predictions; GeneMarker with new Fragile X module, ChimerMarker, Chimerism Analysis software, and Mutation Surveyor software for the analysis of Sanger Sequences. Q Sony DADC .............................................. 1224 Email:
[email protected] URL: http://biosciences.sonydadc.com
With a main focus on the Life Sciences and IVD tools markets Sony DADC BioSciences offers OEM development, mass manufacture and supply of polymer-based smart consumables in a B2B frame work. Manufacturing is located at the Headquarters in Salzburg, Austria at our ISO 13485, ISO 14001, and ISO 27001 certified facility. Q Source BioScience ................................... 321 Email:
[email protected] URL: http:/www.sourcebioscience.com
We are leaders in conventional and next generation sequencing, gene expression and genotyping services and offer a comprehensive portfolio of ORF and cDNA clones, antibodies, reagents and kits. We operate state of the art GLP facilities in LA and Atlanta, with European facilities in UK, Germany, and Ireland. Q Springer ................................................... 1419 Email:
[email protected] URL: http://www.springer.com
Come and browse current Springer titles in Human Genetics. Get 20% off print books and eBooks – and learn about MyCopy editions: a printed eBook for $/ 24.99 only. Springer, your partner in publishing. Meet our Editors at the Springer booth # 1419 to discuss your publishing proposal.
Q
Sobi Inc. ................................................... 1737 URL: http://www.sobi.com
Q STARLIMS................................................ 1038 Email:
[email protected] URL: http://www.starlims.com
Sobi is an international specialty healthcare company dedicated to rare diseases. Our mission is to develop and deliver innovative therapies and services to improve the lives of patients. The product portfolio is primarily focused on inflammation and genetic diseases, with three late stage biological development projects within hemophilia and neonatology.
STARLIMS, has been in labs around the world for almost 25 years. STARLIMS’ award-winning platform offers clinical laboratories a powerful solution suite to help labs achieve analytical, regulatory and business objectives. STARLIMS unified web-based platform offers Cloud based solutions, a Fusion integration module, Advanced Analytics, Mobile capabilities, ELN and SDMS.
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229
Q Station X .................................................... 125 Email:
[email protected] URL: http://www.stationxinc.com
Q The Focus Foundation ........................... 1718 Email:
[email protected] URL: http://www.thefocusfoundation.org/
Station X is the home of GenePool, the leading software platform for scientists and clinicians who work with human genomics data. GenePool makes it easy to manage your projects, analyze your genomics and clinical data and collaborate with others. Try it for free on our website!
The Focus Foundation is the first and only researchbased non-profit organization dedicated to identifying and helping children who have X & Y chromosomal variations (including Klinefelter Syndrome (47 XXY) and Trisomy X) dyslexia and/or dyspraxia - often overlapping conditions that may lead to complex language-based disabilities, motor planning deficits, reading dysfunction, and attention and behavioral disorders.
Q Strand Genomics Inc. ............................... 338 Email:
[email protected] URL: http://www.strandls.com
Strand was founded in 2000 by faculty from the prestigious Indian Institute of Science. Strand’s segue into the life-sciences was through informatics products and services for research biologists, chemists and toxicologists that combine advanced visualization, predictive systems modelling, data integration, and scientific content management. Over 2000 research laboratories worldwide are licensees of Strand’s technology products. Q Streck......................................................... 425 Email:
[email protected] URL: http://www.streck.com
Streck’s molecular products provide reliable performance as well as flexibility and efficiency. Innovative products include a thermal cycler that can perform PCR in as little as 17 minutes, PCR tubes that promote rapid amplification and economic reagent usage, and kits for resistance detection. Q Sunquest Information Systems, Inc. ..... 1624 Email:
[email protected] URL: http://www.sunquestinfo.com
Q Swift Biosciences, Inc. ........................... 1013 Email:
[email protected] URL: http://www.swiftbiosci.com
Q Tecan.......................................................... 531 Email:
[email protected] URL: http://www.tecan.com
= First time exhibitor Shaded = Meeting Supporter
The Jackson Laboratory is a nonprofit biomedical research institution and National Cancer Institutedesignated Cancer Center. It has facilities in Bar Harbor, ME, Sacramento CA, and a genomic medicine institute in Farmington, CT. Its mission is to discover genomic solutions for disease and empower the global biomedical community in the shared quest to improve human health. Q The University of Chicago Genetic Services ........................................................ 419 Email:
[email protected] URL: http://dnatesting.uchicago.edu
Our laboratory is committed to high quality genetic diagnostics and translational research toward the development of tests for neurodevelopmental disorders. Some of our services include genetic testing for brain malformation syndromes, microcephaly, epilepsy, ataxia, monogenic diabetes, congenital muscle diseases and Cornelia de Lange syndrome. Q Thomson Reuters ................................... 1733 Email:
[email protected] URL: http://thomsonreuters.com/pharmalife-sciences/
Thomson Reuters Life Sciences supports R&D productivity across the Pharma lifecycle with respected and comprehensive intelligence solutions. Offering unbiased scientific, competitive, regulatory, and generics information, analytics, and expertise for your organization, Thomson Reuters Life Sciences empowers and enables effective, evidence-based decision-making at every stage from discovery to launch and beyond. thomsonreuters.com/pharmalife-sciences/
EXHIBITORS
Swift Biosciences develops innovative enabling technologies for genomics and personalized medicine. Our Accel-NGS™ products enable the production of high quality DNA libraries from inputs of 10 pg to 1 g, making it possible to use one kit, one workflow for multiple applications. A new kit for RNA-seq is now available.
Q The Jackson Laboratory .......................... 637 Email:
[email protected] URL: http://jaxmice.jax.org
230 EXHIBITORS Q Transgenomic, Inc. ................................... 212 Email:
[email protected] URL: http://www.transgenomic.com
Q V&P Scientific, Inc. ................................. 1938 Email: sales@vp-scientific.com URL: http://www.vp-scientific.com
Transgenomic develops and commercializes biomarkers and personalized diagnostics with the goal of improving medical diagnoses and patient outcomes. Transgenomic leverages proprietary technology and molecular genetics expertise to provide a fully integrated molecular diagnostic solution through our three integrated divisions Biomarker Identification, Genetic Assays and Platforms, and Patient Testing.
V&P’s 96, 384, and 1536 pin tools transfer nanoliter through microliter volumes to microplates, agar, membranes, glass slides. Unique stirring systems for mixing in microplates and reservoirs keep cells, particulates and magnetic beads in suspension for pipetting. Hand-Held Magnetc Bead Separation Blocks for rapid manual separation and washing in microplates.
Trinean ..................................................... 1322 Email:
[email protected] URL: http://www.trinean.com Q
Trinean produces micro-volume platforms for dye-free DNA/RNA quantification and contamination analysis. Both the compact Xpose reader and 96well-based DropSense96 are innovative spectrometers combining UV/VIS spectral content profiling with microfluidic carriers for two ul sample preservation and microcuvette read-out. Additional software allows in-depth content QC, automation and compatibility with regulated labs. Q Tute Genomics ........................................ 1221 Email:
[email protected] URL: http://www.tutegenomics.com
Tute Genomics is a cloud based software-as-aservice platform that has the ability to analyze and annotate human genomes in a rapid and cost-effective way. Tute is opening a new door for precision medicine by helping researchers and clinicians interpret genetic variants, find disease-related genes and generate clinical reports. Q UCLA Clinical Genomics Center ........... 1524 Email:
[email protected] URL: http://www.pathology.ucla.edu/genomics
The UCLA Clinical Genomics Center offers an extensive menu of genetic and genomic testing for hereditary disorders and cancer diagnosis/management, and genetic counseling. Testing performed in our CLIA-certified CAP-accredited Molecular Diagnostics Laboratories includes clinical exome sequencing with expert interpretation by our Genomic Data Board. Custom Sanger sequencing and chromosomal microarray available.
= First time exhibitor Shaded = Meeting Supporter
Q WaferGen Biosystems .............................. 222 Email:
[email protected] URL: http://www.wafergen.com
WaferGen Biosystems is an innovative life science company offering genomic tools for whole-genome, targeted resequencing, genotyping and expression genetic analysis. Our Next-Generation Sequencing target enrichment and library preparation solutions deliver excellent sequencing coverage for easy implementation in clinical labs benefiting clinical customers from improved accuracy and precision. Q WHEATON ................................................. 313 Email:
[email protected] URL: http://www.wheaton.com
WHEATON has been dedicated to supporting scientific advances and discovery by providing innovative solutions for the laboratory. The companys expertise in plastic and glass containers coupled with a wide selection of closure systems and custom solutions ensures the secure storage and delivery of sciences most sensitive materials and precious specimens. Q Wiley......................................................... 1420 Email:
[email protected] URL: http://www.wiley.com
Wiley is the leading society publisher. We publish on behalf of more societies and membership associations than anybody else, and offer libraries and individuals 1250 online journals, thousands of books and e-books, reviews, reference works, databases, and more. For more information, visit the website or our online resource: onlinelibrary.wiley.com.
EXHIBITORS
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Q World Fusion US, Inc .............................. 1040 Email:
[email protected] URL: http://www.w-fusion.com
Q Yourgene Bioscience.............................. 2030 Email:
[email protected] URL: http://www.yourgene.com.tw
World Fusion provides a knowledge station LSKB that aims to take full advantage of data mining techniques to explore the optimum compound and the target protein/Gene. More than 60M non-redundant compound are being categorized, and the variety of the interactions of those with proteins, genes, diseases, and tissues are included.
Yourgene Bioscience provides sequencing and bioinformatics solutions to major research institutions, universities and hospitals in Taiwan and Asia Pacific region. With an integrated team of experienced molecular biologists and bioinformaticians, Yourgene is highly motivated to provide quality sequencing data and analysis for all our valuable clients.
Q WuXi AppTec ........................................... 2010 Email:
[email protected] URL: http://www.wuxiapptec.com
Q Zymo Research Corporation ................... 230 Email:
[email protected] URL: http://www.zymoresearch.com
WuXi PharmaTech (Cayman) Inc. operates in two segments, Laboratory Services and Manufacturing Services in China and the United States. The Laboratory Services segment offers services for small molecules, such as synthetic chemistry, biology, medicinal chemistry, DMPK/ADME, formulation, analytical chemistry, toxicology, clinical development, bioanalytical services, genomics, research reagent production, and clinical services.
Since 1994, Zymo Research has been offering innovative, quality, and easy-to-use tools for Epigenetics research and DNA/RNA purification. As “The Epigenetics Company” Zymo Research is an industry leader in epigenetic product and service development. Our products are well known for their quality, affordability, efficiency, and unparalleled technical and customer support.
EXHIBITORS
= First time exhibitor Shaded = Meeting Supporter
NOTES
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CONTINUING EDUCATION: CMES AND CEUS Poster Sessions are not eligible for CME or CEU credits
Continuing Medical Education Credits (CMEs) The ASHG 2014 Annual Meeting has been planned and implemented in accordance with the Essential Areas and Policies of the Accreditation Council for Continuing Medical Education (ACCME) through the joint providership of the American College of Medical Genetics and Genomics (ACMG) and ASHG. Accreditation The ACMG is accredited by the ACCME to provide continuing medical education for physicians. All educational programming is developed and must be presented in compliance with all ACCME accreditation requirements. The ACMG designates this live activity for a maximum of 30.25 AMA PRA Category 1 CreditsTM. Physicians should only claim the credit commensurate with the extent of their participation in the activity. Procedures: There is a nonrefundable $45 fee payable during the registration process. You can apply for credits through the online application available beginning October 22, 2014. The deadline to submit your request is December 29, 2014. Attendees may use the mobile application or the Program-at-a-Glance to help track the sessions they attended. Please see the section below for the learning objectives, target audience, disclosure policy, and a list of presenters financial disclosures. MDs and PhDs should apply for CMEs. The American Board of Medical Genetics and Genomics (ABMG) will accept CMEs for MDs or PhDs participating in the Maintenance of Certification (MOC) program in any ABMG specialty. Continuing Education Unit Credits (CEUs) for California-Licensed Clinical and Molecular Laboratory Directors ASHG has been approved for Continuing Education Units for up to 30.00 units through the Professional Acknowledgment for Continuing Education (P.A.C.E.®) program for California-Licensed Clinical and Molecular Laboratory Directors. Procedures: There is a nonrefundable $35 fee payable during the registration process. You may also pick up your CEU packet in the ASHG Meeting Office, Room 23. Attendees may use the mobile application or the Program-at-a-Glance to help track the sessions they attended. The deadline to submit your request for PACE credits is Monday, December 1, 2014. No requests will be taken after this date. Clinical Laboratory Scientists should apply for PACE CEUs. ABMG will accept PACE CEUs for diplomats participating in the MOC program in the following categories:
CMEs and CEUs
For questions, contact
[email protected].
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CMEs and CEUs
Clinical Biochemical Geneticist, Clinical Cytogeneticist, and Clinical Molecular Geneticist. Continuing Education Unit Credits (CEUs) for Genetic Counselors ASHG has been approved for up to 30.25 Category 1 CEU credits (30 contact hours) for genetic counselors through the National Society of Genetic Counselors (NSGC). NSGC is approved as an authorized provider of continuing education and training by the International Association for Continuing Education and Training (IACET). Procedures: There is a nonrefundable $40 fee payable during the registration process. Registrants MUST apply for credits via the online submission system after the meeting. The submission site will open on Wednesday, October 22, 2014. The deadline to request credits is Monday, December 1, 2014. No submissions will be taken after this deadline. You will need your registration ID to complete the CEU application. Attendees may use the mobile application or the Program-at-a-Glance to help track the sessions they attended. Genetic counselors and nurses should apply for CEUs. The American Board of Genetic Counseling (ABGC) will accept CEUs earned at this program for the purposes of certification and recertification. ASHG 2014 Learning Objectives All attendees obtaining CME credits will be able to apply the newly acquired knowledge and methods in the evaluation, diagnosis, intervention, treatment, and follow-up of patients with a variety of disorders. At the completion of the meeting, participants will be able to: (1) recognize gaps in knowledge of facts and new methods in genetics; (2) demonstrate ways that the new information and its context may be applied in their own practices; (3) better interpret results of complex genetic tests and recognize instances of most appropriate use; and (4) understand in detail the benefits and potential harms of using the newest genetic technologies. The 2014 ASHG Annual Meeting will help attendees to: • Identify and fill gaps in knowledge in human genetics in areas of statistical analysis, full genome sequencing, next-generation sequencing, genetic neurodegenerative and other disorders, and epigenetics. • Explain the value and use of the newest technological methods in full genome sequencing in diagnosis of disorders and family studies. • Provide context from discussions on the benefits and harms of returning results of full genome sequencing to patients. • Set principles for the provision of results and their interpretation in full genome sequencing and the diagnosis of genetic risks and explain how genome sequencing may be useful in an undiagnosed patient. • Build upon guidelines for the successful counseling of patients receiving complex genetic results. • Present the newest results of gene therapy trials so clinicians may enroll patients or apply therapies to appropriate patents. • Identify and explain the newest non-invasive prenatal diagnostic methods.
CMEs and CEUs
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ASHG 2014 Target Audience This meeting is targeted to research scientists, clinical and laboratory practitioners, and others interested in human genetics and genomics. There is some special focus on workshops intended for trainees. The program is varied so that participants may select from several concurrent sessions that fit their specialized research interests and clinical practice applications. Program Format Invited Sessions The 2014 program is highlighted by 16 invited scientific sessions that have been scheduled over two concurrent time periods. The Program Committee reviewed 86 proposals for invited sessions. The review process took into consideration the merit and timeliness of each proposal as well as the need to balance topics in the overall scientific program. The sessions highlight a wide range of topics of interest to genetics practitioners, researchers, and counselors. Any conflicts were managed in the process described below. Featured Plenary Presentations (abstract-driven) These sessions include a diverse set of presentations selected from the top-rated abstracts submitted and have been programmed as listed below. Each author will give a 15-minute presentation, with an additional five minutes for discussion. Featured Presentation I: Saturday from 5:30 pm – 7:00 pm (four abstracts) Featured Presentation II: Monday from 8:00 am – 8:25 am (one abstract) Featured Presentation III: Tuesday from 8:00 am – 8:25 am (one abstract) Platform Sessions (abstract-driven) Fifty abstract-driven platform sessions totaling 400 oral presentations have been programmed. There are five sets of 8 concurrent platform sessions. Abstract Assignment Process The Program Committee had the difficult task of determining which abstracts would be accepted and in what presentation format. Below is a brief description of how this task was performed. 1. Based on the author’s topic preference and keyword selection, an abstract was initially reviewed by the Program Committee member responsible for that topic. If the committee member determined that the abstract would be more appropriately categorized under another topic, it was transferred to that topic. Sub-topic designations were helpful in assigning abstracts to the most appropriate topic.
CMEs and CEUs
• Integrate results of genomic testing into electronic health records and other methods to store information. • Recognize methods to use centralized databases in the diagnosis and treatment of patients.
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CMEs and CEUs
2. Each abstract was then sent electronically to three reviewers (including a Program Committee member) who are experts in the field. Each reviewer scored the abstracts independently and without knowledge of the score given by the other reviewers. Abstracts were then assigned a score from 1 (highest priority) to 8 (reject). The best cumulative score that an abstract could obtain from all three reviewers was a 3 (1+1+1). Any conflicts were managed using the process described below. 3. In general, abstracts receiving scores within the top 8% for each topic were selected for platform (oral) presentations. The number of available oral presentations for a given topic was in rough proportion to the number of abstracts submitted for that topic, with some discretion given to the Program Committee to adjust for the quality of abstracts in each topic in a given year. The total number of oral presentations was 406. 4. The top-scoring abstracts from each topic were then considered by the Program Committee for possible inclusion in the plenary sessions. Selection of plenarysession presentations was based not only on the cumulative scores, but also on the impact of the science being presented and the balance of topics in the session. Six abstracts were finally chosen to constitute the plenary sessions in recognition of the speed at which new, high-impact scientific discoveries are now being made in human genetics. 5. The concurrent platform sessions were then assembled from the remaining 400 abstracts chosen for oral presentations (step 3 above, minus the 6 plenary abstracts). Within the constraints that each concurrent session has exactly eight abstracts, these platform sessions typically contain abstracts grouped by topic/approach. Some of the platform sessions are “multi-disciplinary” sessions centered around a topic and are designed to bring together investigators interested in that topic from diverse areas of genetics.
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In accordance with the Accreditation Council for Continuing Medical Education through the joint sponsorship of the American College of Medical Genetics and Genomics (ACMG) and ASHG, all faculty, speakers, and moderators must disclose the existence of any financial interest and/or other relationship(s) they might have with the manufacturer(s) or provider(s) of any commercial product(s) or service(s) to be discussed during their presentation: receiving a salary, royalty, intellectual property rights, consulting fee, honoraria, ownership interest (e.g., stocks, stock options, or other ownership interest, excluding diversified mutual funds), or other financial benefit. Financial benefits are usually associated with roles such as employment, management position, independent contractor (including contracted research), consulting, speaking and teaching, membership on advisory committees or review panels, board membership, and other activities for which remuneration is received or expected. If a member of the ASHG 2014 Program Committee indicated a relationship that could be perceived by some as a real or apparent conflict of interest in planning the program, the committee member refrained from discussion. Speaker Conflict of Interest: An alphabetical list of committee members involved in the programming of the meeting, as well as invited session speakers and authors of abstracts who have disclosed the existence of significant financial interest or other relationships the presenter has with companies or organizations that may be perceived to bias the presentation is listed below. This information allows the listener/ attendee to be fully knowledgeable in evaluating the presentation, and is required to meet CME and CEU requirements. All speakers have a conflict of interest slide automatically inserted into their presentation. For speakers that indicated a conflict, the disclosure information they provided during abstract submission or completion of the online conflict of interest form is used automatically. The following presenters have indicated a relationship that within the context of their presentation could be perceived by some as a real or apparent conflict of interest, but do not consider that it will influence their presentation. The disclosures have been reviewed and conflicts-ofinterest resolved or managed. The number following each company name represents the specific relationship from the list below. 1. Stock options or bond holdings in a for-profit corporation or self-directed pension plan 2. Research grants, other grants, scholarships, or fellowships 3. Employment (full- or part-time) 4. Ownership or partnership 5. Consulting fees or other remuneration 6. Non-remunerative positions of influence such as officer, board member, trustee, or public spokesperson 7. Receipt of royalties 8. Speakers' bureau 9. Receipt of substantial in-kind or donated goods or services 10. Inventor/patent owner
SPEAKER/AUTHOR DISCLOSURES
SPEAKER AND AUTHOR DISCLOSURES/CONFLICT OF INTEREST
238 11. 12. 13. 14. 15.
SPEAKER AND AUTHOR DISCLOSURES
Advisor Collaboration Company owner Receipt of travel grants/honoraria Other
• If a presentation is in a platform session, the abstract number is added in parentheses. • If a presenter or organizer is not listed, then that person had no relationship to disclose. Please visit the website for a full list of presenters without disclosures. • Disclosures will also be included in presentation slides. Committee Member Conflicts Akey, Joshua (PC): Glenview Capital, 5 Bianchi, Diana (SI): Illumina, 5 Butte, Atul (IE): NuMedi, 1; Personalis,1; Carmenta,1 Hegde, Madhuri (PC): Ingenuity, 6; Oxford Gene Technology, 6 Ormond, Kelly (PC/SI): Google, 1 Committee Members with No Conflicts to Disclose The following is an alphabetical list of program providers who had no relationship to disclose. Anderson, William (S) Antonellis, Anthony (PC) Avramopouloi, Dimitrios (PC) Bianchi, Diana (SI) Bodurtha, Joann (PC) Bombard, Yvonne (SI) Bonham. Vence (SI) Bowling, Bethany (IE) Carroll, June (IE) Chen, Yimang (S) Cody, Jannine (IE) Doucet, John (IE) Dougherty, Michael (S) Enns, Greg (PC) Faucett, W. Andrew (IE) Francomano, Clair (PC) Fullerton, Stephanie (SI)
Gilissen, Christian (PC) Gunter, Chris (PC) Kathiresan, Sekar (PC) Kocarnik, Jonathan (SI) Kottoor, Vinayak (IE) Leal, Suzanne (PC) Lettre, Guillaume (PC) Levy, Howard (SI) Lontok, Katherine (S) Loos, Ruth (PC) MacArthur, Daniel (PC) McCallion, Andrew(PC) McGovern, Peggi (S) McInerney, Joseph (S) Metcalfe, Sylvia (IE) Minhinnett, Pauline (S) Molke, Karen (PC)
Mortlock, Douglas (PC) O’Leary, James (SI) Ozcelik, Tayfun (PC) Park, Jeenah (IE) Plon, Sharon (PC) Pober, Barbara (PC) Potocki, Lorraine (IE) Province, Michael (PC) Rodriguez, Laura (SI) Speicher, Michael (PC) Stark, Louisa (IE) Tabor, Holly (SI) Weksberg, Rosanna (PC) Wolf, Brittany (S) Zhang, Hongqiang (S) Zhou, Wujun (S) Zwick, Michael (PC)
PC=Program Committee; SI=Social Issues Committee; IE=Information and Education Committee; S=Staff; SR=Slide Review Committee
SPEAKER AND AUTHOR DISCLOSURES
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Poster author conflicts are not listed Balwani, M., Genzyme, a Sanofi Company - 14 (365) Battle, A., Google, Inc. - 5 (Session 75) Bean, L. J. H., Emory Genetics Laboratory - 3 (374) Bercovici, S., Silicon Valley Biosystems - 1, 3 (154) Brenner, S. E., TCS - 2 (173) Burton, J. N., Authors - 10 (330) Butte, A., Personalis - 1, 5, 10; Geisinger - 11; Regeneron - 5, 11; Covance - 5, 11 (Session 6) Chaisson, M. J. P., Pacific Biosciences - 3 (332) Church, D. M., Personalis, Inc. - 3 (42) Couch, F., Myriad Genetics - 7 (338) Dermitzakis, E., DNANexus - 1, 11 (Session 71) Durand, E. Y., 23andMe, Inc. - 1, 3 (153) Epstein, M. P., Amnion Laboratories - 5 (28) Forsberg, L. A., CRAY Innovation AB - 4, 10, 13 (295) Fromer, M., Roche - 2; Takeda - 2 (347) Fusi, N., Microsoft Research - 1, 3 (169) Garraway, L. A., Novartis - 2, 5; Boehringer Ingelheim - 5, 14; Millenium - 5, 14; Foundation Medicine - 1 (Session 70) Germain, D. P., Genzyme, a Sanofi company - 2, 14 (364) Gerstein, M., DNANexus - 1, 11; Bina Technologies 1, 11 (Session 4) Gripp, K. FDNA - 6 Johnston, J. J., Illumina - 11; Genentech - 7 (46) Kehr, B., Amgen Inc. - 13 (38) Kodira, C., General Electric - 3 (333) Korbel, J., Pacific Biosciences - 12 (Session 4) Lee, W., Seven Bridges Genomic Inc. - 1, 3 (41) Lo, Y. M. D., Sequenom - 1, 2, 5, 7, 10; Xcelom - 13, 10 (Session 69) McDonald-McGinn, D. M., Natera - 8 (306) Mignot, E., GSK - 5; Jazz Pharma - 5; Novo Nordisk 5; Reset - 5 (Session 72)
Miller, M. J., Metabolon Inc. - 12 (373) Morissette, R., Diurnal, Ltd.; NIH/Diurnal, Ltd. CRADA - 15 (132) Nelson, S. F., UCLA - 3, 10 (Session 8) Palomaki, G. E., Natera, Inc - 2; Sequenom, Inc - 2, 5 (Session 69) Pinelli, M., Complete Genomics Inc - 3 (212) Ramsey, B., NIH - 2; CFF - 2; Insmed Incorporated; N30 Phamaceuticals, LLC - 15; Novartis Pharmaceuticals Corp.; Vertex Pharmaceuticals Incorporated - 5, 15 (Session 8) Rehm, H., Knome - 11, 14; Complete Genomics - 11, 14; Ingenuity - 11, 14; Generation Health - 11, 1 (Session 70) Schwartz, S., Laboratory Corporation of America - 1 (62) Sebat, J., Roche - 2 (344) Shendure, J. A., Illumina - 12 (Session 76) Sklar, P., Catalytic Inc - 15; Sage Bionetworks - 2, 6 (345) Strom, C. M., Quest Diagnostics - 1, 3 (67) Susswein, L., GeneDx - 3 (313) Takahashi, J. S., Reset Therapeutics, Inc. - 1, 4, 5, 11 (Session 72) Tavtigian, S., Myriad Genetics, NIH - (Session 71) Terry, S., InVitae - 5; Sanofi - 2; Regeneron - 14 (Session 74) Torkamani, A., Cypher Genomics, Inc. - 4, 5, 7, 10 (112) van Min, M. J., Cergentis - 1, 3, 4, 10 (328) Wang, J., Quest Diagnostics - 3 (61) Wang, Y., Ancestry.com - 1, 3 (107) Zamani Esteki, M., Cartagenia - 12 (327)
If a presenter or organizer is not listed, then that person had no relationship to disclose. Please visit the website for a full list of presenters without disclosures.
SPEAKER/AUTHOR DISCLOSURES
INVITED SPEAKER AND PLATFORM AUTHOR CONFLICTS
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SPEAKER INSTRUCTIONS
SPEAKER INSTRUCTIONS AND PRESENTATION GUIDELINES Speaker-Ready/Presentation Uploads – Room 33C, Upper Level Telephone: 619-525-6208 (operational Saturday, October 18-Wednesday, October 22) All speakers are required to upload their presentation in advance of the session. Visit the Speaker Presentation/Upload Room at least three hours before your talk. All presentations will be downloaded to your session room one hour before the scheduled start of the session. The system in the speaker ready room will be locked at that time and you will be unable to access your presentation thereafter. Please plan accordingly and upload your presentation early. Please do not take your laptop to the meeting room. ASHG does not permit use of personal laptops for presentations. The speaker presentation upload room is open during the following hours. Saturday Sunday Monday Tuesday Wednesday
11:00 am – 5:00 pm 7:00 am – 5:00 pm 7:00 am – 5:00 pm 7:00 am – 5:00 pm 7:00 am – 10:00 am
It is important that all speakers stay on time. Moderators have been instructed to stop you from speaking if you go over the allotted time. Timers will be at the podium to assist you. All speakers are required to check in with the moderators and audiovisual technician in the session room 30 minutes prior to the start of the session (not the start of your talk). We ask that all presenters sit in the front row to ensure easy transition between speakers. Slide Preparation • When presenting patient data and health information (including photos), all presenters must be compliant with informed consent regarding human subjects and all applicable HIPAA regulations. • ASHG rules and guidelines require disclosure of gene names and sharing of research data so that findings can be replicated and other investigators with similar data can test your findings against their own. • Authors must disclose on one of their slides whether the abstract has been previously published. If the abstract has been previously published, authors should indicate the date and publication and must address new findings since the publication. • Authors who do not name genes at the meeting or do not address previously published details will be subject to sanctions as determined by the Program Committee. The moderator and a member of the Program Committee will be in the audience to monitor compliance. • The last slide in your presentation may include acknowledgments. Authors should not use presentation time to acknowledge co-authors and collaborators.
SPEAKER INSTRUCTIONS
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Speaker Disclosure/Conflict-of-Interest The ASHG Annual Meeting has been planned and implemented in accordance with the Essential Areas and policies of the Accreditation Council for Continuing Medical Education (ACCME) through the joint providership of the American College of Medical Genetics and Genomics (ACMG) and ASHG. The ACMG is accredited by the ACCME to provide continuing medical education for physicians. All educational programming is developed and must be presented in compliance with all ACCME accreditation requirements. Presenters must adhere to these guidelines, which are outlined below. Failure to do so may result in your presentation being excluded from the meeting. *All speakers must sign a disclosure statement regarding the existence of any financial interest and/or other relationship(s) they might have with the manufacturer(s) or provider(s) of any commercial product(s) or service(s) or with commercial and academic laboratories that accept samples for testing or develop any laboratory test or test(s) to be discussed during their presentations. *Authors with conflicts to disclose that may affect the content of their presentations will be required to provide a copy of their slides in advance of the meeting so they can be peer-reviewed. Authors who disclosed a conflict will be contacted and will be asked to upload their slides by at least two weeks in advance of the meeting so the slides can be reviewed by members of the Program Committee. Once approved, the slides cannot be changed. Disclosure of financial relationships will be listed in the Program and on the website. *Talks must be free of commercial bias for or against any product. If commercial products are discussed, the session must present objective information about those products, based on generally accepted scientific evidence. Speakers must not engage in the marketing of product(s) in any way during the presentation. Moderators have been instructed to intervene if this occurs. *The content or format of a CME activity or its related materials must promote improvements or quality in healthcare and not a specific proprietary business interest of a commercial entity. Presentations must give a balanced view of therapeutic options. Use of generic names will contribute to this impartiality. If the educational material or content includes trade names, trade names from several companies should be used when available, not just trade names from a single company.
SPEAKER/AUTHOR DISCLOSURES
• ASHG’s Social Media Guidelines and Twitter Policy: Please refer to the website for the dos and don’ts of Social Media at www.ashg.org/2014meeting (click on general information). Remember that talks are tweetable and shareable by default. Speakers can ask that specific details not be shared and can opt out by informing the audience of their preference. • If you are willing to share your slides (or a portion of them) with the audience, please include a slide at the end that states how interested parties can get a copy of your presentation or how they can reach you afterwards for further questions.
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SPEAKER INSTRUCTIONS
*No logos on slides. To satisfy potential conflict of interest issues, corporate, academic, and/or university logos may be included only on the first and last slides. Other slides may not contain logos. *Authors must include a conflict-of-interest slide as part of their presentations to meet ACCME requirements, even when there is nothing to disclose. This ASHG-approved slide will be inserted automatically as the first slide in the presentation. For speakers who indicated a conflict, the disclosure information completed during abstract submission will be used automatically. No further action is required by authors for the conflict-ofinterest slide.
243
The index includes an alphabetical listing of all invited speakers, and first/presenting authors only. It does not list co-authors. For a complete list of authors, including co-authors and study groups/consortia, please visit the ASHG 2014 website at ashg.org/2014meeting or use the search function on the itinerary builder. A Abbott, D., 3319T Abbs, S., 2431T Abdalla, H. A., 3481T Abd Allah, S.Ghareeb., 3198T Abdellaoui, A., 592S Abdelmoula, N., 2699S Abdel-Rahman, M. H., 3484T Abecasis, G., 246 Abecasis, G. R., Session 25 Abel, H. J., 1846M abiri, m., 2235T Abney, M., 261 Abou Jamra, R., 3053M Abou Tayoun, A. N., 629M Abramovitz, D. L., 2481M Abrantes, P.CS., 942T Abtahi, S., 1302T Abul-Husn, N. S., 1102S Abulí, A., 2402S Aceves-Aceves, M. A., 2719T Achatz, M., 3475T Achilli, A., 1993S Achilly, N. P., 390 Acke, F., 293 Ackerman, C. M., 2115S Adams, A. F., 1995S Adams, JN., 838S Addis, L., 1300S Adhikari, A. N., 2532M Adir, V., 2778M Afshar, P. T., 1478T Afzal, U., 425M Aglan, M. S., 2680T Agrawal, P. B., 2981M Agrawal, S., 1512S Ahluwalia, M., 1032T Ahn, J., 1007M Ahn, J. W., 1564M Ahn, K., 1173T Akalin, I., 1949S Akar, H., 1950M Akin, H., 3333M Akiyama, N., 2313S Akler, G., 3154S Akula, N., 1287T Alaimo, J. T., 1063S AL-Allaf, F. A., 2120M Al Amri, A., 750T Al-Aqeel, A., 2829S Al-Asadi, H., 1436T Alastalo, TP., 2138M Alavi, M., 2868T
Albalwi, M., 806M Albert, J., 3019S Albrechtsen, A., 55 Alcausin, M. B., 2703M Alders, M., 3116M Aldinger, K. A., 3045T Alexander, J., 3435M Alexander, M. S., 377 Alfano, G., 3092M Alfonse, L., 1468M Al-Hamed, M. H., 3014M Alhariri, A., 587M Al-Hertani, W., 2219T Ali, A., 2629T Ali, M. M., 2727M Alisch, R. S., 376 Alkhateeb, A., 2884S Alkhunaizi, E., 2178M Alkorta-Aranburu, G., 2469M Allaire, N., 1710S Allayee, H., 924T Allen, A., 27 Allen, M., 1072S Almeida, MAA., 2116M Almeida, T. B., 731S Almoguera, B., 2723S Al-Mubarak, B. R., 1247M Alnaemi, F., 1121M AlOthman, L. K., 1831M Alsadah, A., 2779T Altarescu, G., 2824S Altmüller, J., 2410S Altuwaijri, A., 426T Alvarado, D., 1060S AlvaradoArnez, L., 1818S Alvarez, C., 3228M Alves, L. U., 2885M Amabile, S., 1288S Amati-Bonneau, P., 1346M Amberger, J. S., 2942M Ambrose, K. K., 1359T Amendola, L., Session 70, 2522S Ammar, R., 717S Amos, C., 3283T Amrom, D. R., 1289M Amundadottir, L., 887M Amyere, M., 2117S An, P., 910S Anaclerio, F., 1934M Andermann, E., 1274M Andersson, H. C., 2274M Andiappan, AK., 888T Andreasen, D., 3443S Andrieu, N., 1799T Ang Houle, A., 1479S Anhalt, A., 1339S
Annilo, T., 546T Ansar, M., 2895T Antaki, D., 1203T Antonarakis, S. E., 165 Antoniou, E., 1617S Antounians, L., 569M Anttila, V., 1062T Anusha, U., 2242M Aparicio, R., 2664M Aquino-Michaels, K., 655S Aragon-Martin, J. A., 3126T Araujo, A. L., 2721M Araujo, TK., 878M Arboleda, V. A., 3017M Arbour, L. T., 2064M Arcanjo Silva, A. C., 625S Aretz, S., 3270M Arguello, R., 1628T Ariniello, L., 317 Armour, J. A. L., 593M Arno, G., 2976T Arora, K., 1565T Arpawong, T. E., 1174S Arslan, M., 2262M Arslan Ates, E., 3123T Artomov, M., 787S Aschard, H., 966T Asgari, S., 796S Ashar, F. N., 1116T Ashton, E., 2581T Asimit, J., 1869S Asp, M., 1705M Asrani, K., 817S Asselbergs, F. W., 2035S Auerbach, A. D., 1629S Ayala-Ramírez, P. A., 2865S Aykut, A., 3120T Ayub, Q., 1996M Ayyagari, R., 2992S Azencott, C. A., 167
B Babron, M. C., 1821S Bacelis, J., 2849S Bademci, G., 2964T Badenas, C., 3127S Baek, W. S., 1205M Bai, R., 312 Baier, L. J., 759T Bailey, M., 961S Bailey-Wilson, J. E., 1088M Baird, D. A., 1513M Baker, P. R., 3133S Balaburski, G., 1353T Balak, C. D., 3024T Balakrishnan, P., 2096M
Balasubramanian, K., 3096T Balasubramanian, S., 96 Baldan, A., 2904T Balding, D. J., 1759M Balick, D., 12 Ballew, B. J., 2918M Balog, J., 508T Balwani, M., 365 Bancroft, E., 3509S Banda, Y., 1892M Bandlamudi, C., 3 Banfi, S., 1471M Banks, W., 1242T Bansal, V., 760S Bao, X., 2786S Baple, E. L., 266 Baptista, N. M., 2386S Barashkov, N. A., 883S Baratela, W. A. R., 2728T Barbalho, P., 1351S Barber, M., 1844T Barclay, S. F., 1340M Bardi, S., 2057S Barfield, R., 1768M Barg, C. J., 2394S Baris Feldman, H. N., 2826S Barlow-Stewart, K., 2819S Barnes, A. M., 3107M Barragan Osorio, LP., 2772M Barrie, E. S., 2077S Barrientos- Perez, M., 2605T Barris-Oliveira, A. C., 2243T Barseghyan, H., 3143S Bartel, F., 3217T Barth, A. L., 2285T Bartlett, C. W., 1834M Baschal, E. E., 859S Basehore, S., 2551T Basel-Vanagaite, L., 2771S Basha, M., 3157S Bashirova, A., 636T Basile, K. J., 1104T Baskovich, B., 2562M Bassaganyas, L., 594T Bastarache, L., 166 Basu, A., 1902M Basu, M., 2079S Batista, O. I., 2509T Battaglia, A., 2618S Battle, A., Session 75 Bauer, P., 2341T Baxter, S., 2454M Bay, S. N., 3414M Bayon, B. L., 1354S Bayram, Y., 3016S Beal, M., 2293T
SPEAKER/FIRST AUTHOR INDEX
INVITED SPEAKER AND FIRST AUTHOR INDEX
244
SPEAKER AND FIRST AUTHOR INDEX
Beale, H., 1480M Bean, L. J. H., 374 Beaudoin, M., 3020M Beck, A. E., 2974S Beck, C. R., 595S Becker, J., 1009S Beckmann, N. D., 1057S Beecham, A. H., 1900M Beesley, J., 3278S Begay, R. L., 124 Begum, F., 757S Beiraghi, S., 879T Bekheirnia, M., 3010S Bekris, L. M., 535S Belbin, G., 175 Belkadi, A., 1609M Bell, J. T., 427M Bell, R. K., 2082M Bellayr, I. H., 565S Belle, K., 1319M Belmont, J., 2121S Below, J. E., 54 Beltran, S., 1630M Belyaev, A., 1618M Ben-Avraham, D., 783T Ben-David, E., 1310M Benke, P., 2765S Ben-Shachar, S., 1106M Bentley, A. R., 866M Bercovich, D., 756T Bercovici, S., 154 Berg, J. S., 2597S Bergen, A. W., 680M Berker Karauzum, S., 3194T Bernat, J. A., 2563T Berndt, S. I., 296 Bernhardt, B. A., Session 11, 216 Bernier, F. P., 1217M Bershteyn, M., 265 Bertolin, C., 3064S Bertrand, J., 728M Betz, R., 967S Beunders, G., 2748M Bhangale, T., 1362S Bhanwer, A., 1024S Bharj, J., 3139S Bhaskar, A., 1997S Bhat, C. G., 681S Bhatia, G., 937S Bhatia, N., 2637M Bhatia, S., 518M, 2886T Bhattacharya, S., 2914S Bhattacharya, S. K., 3187T Bhavani, G.SL., 3097S Bhoj, E. J., 489M Bhupatiraju, C., 1034M Bi, W., 1457T, 3059M Biagioli, M., 18 Bichet, D. G., 2173S Biesecker, B., Session 48, 2378M Biesecker, L. G., Session 48, 2180M Bigdeli, T., 1064M Billing-Ross, P., 1508T Biray Avci, C., 3444M Birkenhager, R., 2750S Biswas, P., 2993M Biton, A., 543T
Bittencourt Piccini, A., 797M Bjelland, D., 1464S Bjork, B. C., 3150S Blackburn, A., 21 Blanchard, J. W., 2373T Blanton, S. H., 2083S Bloss, C., 2314S Blue, E., 1814T Blumenthal, I., 19 Bobo, D. M., 1951S Bocharova, A., 1156S Bodamer, O., 2227T Bodea, C., 1914M Bodenhofer, U., 1728S Bodian, D., 1514T Body, S. C., 2090M Boeldt, D. L., 2374M Boland, J., 3488S Bombard, Y., 2379T Bonaldi, A., 3174T Bone, W. P., 1499T Bonham, V., 321 Bonifaz, V., 1903S Bonilla, X., 2763M Bonnen, P., 270 Boomer, T., 2831S Boonvisut, S., 2042M Booth, K. T., 2961T Borel, C., 532S Borges, M. G., 1515S Borns, M. C., 1619T Borralleras, C., 3065M Botta, S., 526S Bouatia-Naji, N., 2147S Bouman, A., 428T Bowdin, S., 2154M Bowler, R. P., 784S Bowling, K., 2583M Boyar, F., 1131T Boyden, S. E., 81 Boyle, S. M., 3348M Braathen, G. J., 3050M Bradbury, A. R., 2407S Bradfield, J. P., 1167T Bradshaw, P. S., 3401S Bragagnolo, S., 2777S Brand, H., 16 Brar, S. K., 1859T Bras, J., 1192S Braun, D. C., 1998M Bray, M. J., 2805S Brenner, S. E., 173 Brewer, M. H., 2954M Briceno, I., 2768S Brick, K., 223 Briggs, S. E. W., 3398S Brinza, D., 2506T Brito, L. A., 818M Broadaway, K. A., 255 Brody, J. A., 2122M Brøner, S., 3043S Bronson, P. G., 496T Brooks, A., 3390M Brooks, B., 2267T Brossard, M., 3317S Brown, A., 257 Brown, B. C., 260 Brown, L., 1901S Brown, R., 2960M
Browning, B. L., 152 Browning, S. R., 1999S Brownstein, C. A., 2412S Bruce, S., 2424M Brudno, M., 170 Bruestle, J., 1587S Brunner, H. G., Session 48 Brusco, A., 2907T Brusius-Facchin, A. C., 1516M Bruun, G. H., 550S Bryc, K., 1904M Bryois, J., 283 Bu, F., 2977S Buchkovich, M. L., 511S Buckingham, K. J., 2123S Buhay, C., 1365S Buil, A., 660T Buis, J., 2512T Bulik-Sullivan, B., 1787T Buote, C., 1602S Burashnikov, E., 2150M Burdon, K. P., 788M Burgess, D., 3349T Burgess, J., 429M Burgess, M., Session 74 Burke, W., Session 74 Burnett, L., 2564S Buroker, N., 898S Burrage, L., 2289T Burrow, T. A., 2282M Burton, J. N., 330 Busche, S., 430T Bush, L., 2350M Bushman, F. D., Session 76 Butali, A., 841S Butler, M. G., 1213S Butte, A., Session 6 Buxbaum, J. D., 20 Bycroft, C., 2017S Byrnes, A. E., 160 Byrska-Bishop, M., 512M
C Cabral, W. A., 3095M Caceres, A., 3416S Cai, X., 2470T Cajuso, T., 3320S Cakiris, A., 633T Caliskan, C., 3442T Callewaert, B., 2549S Caluseriu, O., 2766M Caminsky, N. G., 1481T Campbell, C., 1546M Campbell, C. A., 2328S Campbell, I., 3229T Campbell, I. M., 280 Campbell, P. T., 3284S Camper, S., Session 7 Canales, C. P., 855T Cannon, M. E., 911M Cannon-Albright, L. A., 3230S Cao, S., 1366M Caplash, S., 3473S Capo-chichi, JM., 3074M Cappetta, M., 3489M Capra, J., 408T
Capri, Y., 1334M Caraballo, P. J., 718M Carbonetto, P., 925S Cardinale, C. J., 3119M Cardoso, M. G., 3438M Carmi, S., 1928M Carmona-Mora, P., 3088S Carpenter, M. L., 250 Carrasquillo, M. M., 1301M Carrillo-Moreno, D. I., 3445T Carrion-Castillo, A., 1223M Carroll, A., 1517T Carroll, C. J., 2982T Carroll, J. C., 2411S Carson, A. R., 2500T Carstensen, T., 1511T Carter, C., 389 Carter, M., 2671T Carulli, J., 730M Carvalho, B. S., 1518S Carvalho, M. R. S., 3321M Carvill, G. L., 3060T Casadei, S., 3224S Casalone, E., 410T Cassa, C. A., 93 Cassidy, S. B., Session 23 Castellani, C., 1226M Castello, R., 147 Castro, A.CV., 2757M Cavalcanti, D., 2023S Cebulla, C. M., 3485S Cedro-Tanda, A., 3231M Cerdeira, L., 1585M Cerise, J., 560M Cervantes, I., 1356T Cervera Juanes, R. P., 431M Ceyhan-Birsoy, O., 2533T Cha, D. H., 2834S Cha, P., 1162S Chad, L., 2676M Chaisson, M. J. P., 332 Chakraborty, R., 1890S Chalkia, D., 1191T Chami, N., 2051S Chan, E. T., 1652T Chan, S., 1446S Chan, S. L., 682M Chan, W., 478T Chan, Y., 968M Chandler, R. J., 2191S Chang, C. C., 91 Chang, F., 3391T Chang, L., 1738M Chang, S. N., 683S Chang, T., 3232T Chang, X., 1159S Chang, Y., 3285M Chang, Y. W., 3334T Chapman, T., 1296T Charalsawadi, C., 3208T Charng, W.-L., 113 Chassaing, N., 2937T Chatterjee, S., 909T Chattopadhyay, K., 3314S Chaubey, A., 2548T Chaudhry, A., 2751M Chaudhuri, A., 3350S Chavarria-Soley, G., 1716S Chaves, L.FOB., 2760M Chee, M. S., 1682T
SPEAKER AND FIRST AUTHOR INDEX Cienfuegos, J. G., 3220T Cipriani, V., 384 Cirillo, E., 1631T Civelek, M., 278 Clark, R., 2729S Clarke, L., 621T Clarke, R., 3448T Claussnitzer, M., 1500S Clee, S. M., 1039S Codina-Solà, M., 1235M Cohen, A. S. A., 2710T Cohen, N., 3197T Colas, C., 3423M Colavincenzo, J., 971M Cole, J. B., 972T Cole, M. B., 419M Coleman, C., 973S Colgiu, I. G., 1367T Colima, A., 2890S Colin, E., 2825S Colleaux, L., 786T Colli, L. M., 3234M Collins, A., 2965S Collins, R. L., 334 Colodro Conde, L., 1169M Colovati, M., 2606S Conboy, E., 2677T Concolino, D., 2275T Conde-Pacheco, M., 2202M Conley, Y. P., 1163M Connolly, JJ., 772S Conomos, M. P., 1807M Conrad, D., 635M Conte, M. I., 3037S Conti, N., 3449S Cooke Bailey, J. N., 1108S Cooper, N. J., 617M Cooper, S., 3394T Corbin, L. J., 769S Cordell, H. J., 974M Cornec-Le Gall, E., 1772T Cornejo-Olivas, M., 1946M Cornes, B. K., 1482S Corominas-Galbany, J., 767M Corona, E., 1959S Corona-Rivera, J. R., 2700M Corradin, O., 939T Corsmeier, D., 2148M Corvol, H., 3122M Cosco, A., 2197S Costa, H. A., 35 Costa, L. S. A., 3159T Costa, S., 2488T Costa Sa, A. C., 732M Cotsapas, C., 795T Couch, F., 338 Coulet, F., 3490T Coulson, R., 488T Courcet, J. B., 3132S Courtenay, M. D., 1008T Coutelier, M., 1120S Coviello, D. A., 3125M Covington, K. R., 1603M Cox, G. F., 2278M Cox, H. C., 2389S Cozen, W., 3312M Creek, M. M., 1744M Cropp, C. D., 1828M
Crosslin, D., 401 Croteau-Chonka, D. C., 1006S Crouch, J., 2354M Cruceanu, C., 1260T Cruz, G. I., 394 Cruz, P.RS., 3000T Cuccaro, M. L., 2375T Cukier, H. N., 1320T Cullinane, A. R., 237 Culver, B., 2523M Culver, J. O., 2420S Cunningham, J., 3235T Cunninghame Graham, D. S., 392 Curnutte, M. A., 2343T Currall, B. B., 36 Curtin, J. A., 975T Cusanovich, D. A., 580S Cutiongco de la Paz, E. C., 2155S C. Zapico, S., 2317S Czub, B., 3030T Czyz, A., 433M
D da Cruz, A. D., 3168T Dadgar, S., 3105T Dagnall, C. L., 1826T Dahl, A., 1632S Dai, H., 2540S Dai, H., 1368S, 2026M Daiger, S. P., 2905S Dalageorgou, C., 2141S Daley, D., 434T Daly, M., Session 25 Dames, S., 1610T D'Angelo, C. S., 2450S Dannemiller, J. L., 1776S Daoud, H., 2513S Daoud, S., 2812S Dargis, N., 2125S Darnell, G., 1510M Darst, B., 1068T Das, A., 3417M Das, D. K., 1297S Das, S., 176 da Silva, C. C., 3175T da Silva, L. R. J., 2489S Da Silva Jose, T. D., 2241T Dasouki, M., 3003T Davalos, N. O., 2775M Davis, A., 597T Davis, E. E., 230 Davis, J. M., 1132S Davis, J. R., 2032M Davis, L., 618T Davis, M. F., 1332T Davis, T., 2966M Day-Williams, A., 773M de Abreu, F., 3353S Deacon, D. C., 2065S Deak, K., Session 7 De Albuquerque, R., 858T Dean, M., 3418T de Andrade, M., 1808T de Boer, S., 2911S DeBoever, C., 3236S
Decker, B., 3354M Deforce, D., 2453S De Franco, E., 2546S Dehghan Banadaki, B., 692M Delahaye-Sourdeix, M., 3225M Delaneau, O., 162 De La Vega, F., 1633M de Leeuw, N., 192 Del Favero, J., 2514M de Lima, F. T., 2403S Delledonne, M., 1566S Delot, E. C., 314 DeLuca, D. S., 1669M De Luca, V., 1175M DeMari, J., 2687S Demetriou, C., 774T Demirci, F. Y., 2056M Deml, B., 2967T Deng, L., 2000M Deng, Z., 1559T den Hoed, M., 2052M Denis, M., 2860S Denomme-Pichon, A., 2945M de Paor, A. C., 2344M Deriziotis, P., 1290T Dermitzakis, E., Session 71 DeRosa, B. A., 927T De Rubeis, S., 13 DeRycke, M. S., 3237M DeSantis, G., 2835S Deslattes Mays, A., 552T de Smith, A. J., 3287S Desnick, R. J., 4 Deters, K., 1227T Devaney, J. M., 775S de Vega, W. C., 435M De Vlaminck, I., Session 69 de Vries, F. A. T., 311 Diallo, T., 2638T Dias da Silva, M. R., 2985T Diaz-Gallo, L. M., 1040M Diaz-Horta, O., 47 Diaz Martinez, R., 2043S Di Bella, D., 1261S Dickman, J., 1615M Dickson, P., 2185S Diderich, K. E. M., 2830S Diener, S., 2174M Dimova, I. I., 2118M Dina, C., 2001S Dincer, P., 2903M Ding, J., 1739T Ding, K., 3386S Ding, Q., 1965S Ding, Y., 2594S Dinwiddie, D. L., 1076M Diogo, D., 733S Disteche, C., 494T Session 9 Do, R., 189 Dobbyn, A. L., 1113T Dobrovic, A., 335 Doddapaneni, H., 1693M Dodson, G., 2598M Dogan, M. V., 436T Doheny, D., 2584T Dolinsky, J. S., 2541M Dollfus, H., 2929S
SPEAKER/FIRST AUTHOR INDEX
Chen, C., 1303S, 1860S Chen, C. H., 3436T Chen, D., 3322T Chen, D. P., 1729M Chen, F., 2494T Chen, G., 1756M Chen, H., 1822M Chen, J., 502T, 1519M, 1616T, 2207S Chen, J. A., 1193M Chen, J. C., 1476S Chen, K., 141 Chen, K. C., 1721T Chen, L., 524M, 1703T Chen, P., 432T, 1011T Chen, R., 88, 1588M, 1835T, 2432S Chen, W., 1743S, 3351M Chen, W.-M., 1843M Chen, X., 3446S Chenevix-Trench, G., 342 Cheng, C. Y., 386 Cheng, J., 2978M Cheng, Y., 577S Cherbal, F., 3476S Cherny, S. S., 1220M Chessa, L., 2169S Chettiar, S., 1056T Cheung, S. W., 207 Chevillard, C., 2106M Chheda, H. K., 2124M Chi, H., 819T Chiang, C., 44 Chiang, C. W. K., 2034M Chiba-Falek, O., 1306S Chini, V., 2892T Chitayat, D., 2660S Chiu, C. L., 2168M Chiyonobu, T., 2221T Cho, E. H., 573T Cho, K., 1870M Choi, A. L., 751S Choi, E., 2190M Choi, J., 3286T Choi, JS., 3352T Choi, K., 3146S Choi, S., 969T Chong, J. X., 50 Chong, K., 2791S Chong, Z., 1447M Choquet, H., 1347T Choufani, S., 130 Chow, C. Y., 2880T Chow, E., 1349M Choy, K. W., 2430M Christensen, K. D., 324 Chu, A. Y., 957T Chu, H., 3233S Chu, J., 1080T Chukka, K., 3447M Chung, B. H. Y., 2759S Chung, C., 1069S, 1429M Chung, J., 789T, 970S Chung, R., 1841T Chung, S. J., 1146T Chung, S.-K., 3046S Chung, W. K., 596M Church, D. M., 42 Churchhouse, C., 202 Chutake, Y., 527M
245
246
SPEAKER AND FIRST AUTHOR INDEX
Domenech, L., 1262M Dong, C., 2084M, 3355T Dorman, S. N., 3450M Dorschner, M. O., 1252S Doucet, T. T., 3356S Dove, E. S., 2345T Downie, J., 1981S Doyle, A., 121 Drecourt, A. B., 1307M Drennan, C., 3238T Drigalenko, E., 1872S Drong, A. W., 437M Du, M., 30, 776M Duan, J., 349 Duan, Q. L., 708M DuBose, A. J., 2182M Dudbridge, F., Session 73, 256 Dueker, N. D., 880S Dufner-Almeida, L. G., 2565M Duis, J., 495M Dumas, K., 598S Dunaway, K., 438T Dung, V., 2560T Duplain-Laferrière, F., 2820S Dupont, C., 2949T Dupuis, L., 2608T Durand, E. Y., 153 Dutil, J., 3271T Dutta, S., 3129S Duvefelt, K., 2496M Duz, M., 3357M Dworniczak, B. P., 1686S Dykxhoorn, D., 2200M
E Ebbert, M., 1969S Echevarria, L., 2254M Eckart, N., 1316M Eckl, K. M., 2209S Economides, A. N., 2866S Edge, M. D., 2018M Edwards, K. L., 761M Ehmsen, J. T., 1275T Ehwerhemuepha, L., 1723M Eicher, J. D., 1176T Eike, M. C., 1483M Einarsdottir, E., 2896S Ek, W. E., 439M Ekici, A. B., 3009T Ekker, S. C., Session 10 Ekstrøm, C., 1369M Elasrag, M. E., 2920S El-Bassyouni, H., 2658M El Boueiz, A., 958S Elias, A. F., 2655M El Khattabi, L., 2659T Ellard, S., 2468S Ellinghaus, D., 2104M Elliott, K. S., 798T Ellis, S. E., 1245T El Rouby, N., 702M El-Sayed Moustafa, J. S., 1096S El-Shanti, H., 2893S Emami, N., 3288M Emmett, W. A., 551M
Eng, C., Session 70 Eng, C. M., 369 Eng, K., 1687M Engelhardt, B., 1740S Enns, G. M., 2218M Enomoto, K., 2639S Enomoto, Y., 2425T Eppig, J. T., 2873M Epping, M. W., 149 Epstein, M. P., 28 Eran, A., 1054S Erickson, S. W., 3289T Erikson, G., 1448T Erlich, Y., Session 6 Ernst, J., 252 Erzurumluoglu, M., 2932S Eskin, A., 2212M Eskin, E., 1886T Esko, T., 277 Esmaeeli Nieh, S., 3077M Esperon Percovich, P., 1358M Esser, D., 3358T Esslinger, J., 2798S Ettwiller, L., 1683S Eydoux, P., 2656T Eyheramendy, S., 1882M
F Facio, F., 2397S Faivre, L., 2915M Fakhrai-Rad, H., 1661T Fakhro, K. A., 2816S Falik-Zaccai, T., 3067S Fallet, S., 2294M Fan, J., 3323S Fan, Q., 799S Fan, S., 1147S Fan, W., 3215T Fang, H., 1567M Fang, L. T., 1509S Fang, Q., 2955T Fang, S., 3290S Farhan, S. M. K., 2912M Farlow, J. L., 1253M Farrell, J., 1453M Farrow, E. G., 1504M Farwell Gonzalez, K. D., 2456S Fathzadeh, M., 2074M Faucz, F., 379 Favé, M-.J., 1958M Fawcett, G., 1666M Feenstra, B., 74 Feingold, E., 943S Feitosa, M. F., 918T Feliciano, P., 2283T Fellay, J., 2335T Fellmeth, J. E., 2807S Feng, B., 1370T Feng, S., 22 Feng, X., 1634T Fenwick, A. L., 2730M Ferri, L., 2296M Ferriero, R., 2175S Figueiredo, T., 2979T Fiksdal, A., 2332M Findlay, G. M., 329
Finucane, H., 351 Fiorito, G., 2002M Fisch, A. S., 2071S Fisch, G. S., 2651S Fisch, K., 1371S Fischer, K., 1760T Fischer, S. B., 2492S Fisher, J., 1698S Fisher, V. A., 1041T Fisk Green, R., 2406S Fitarelli-Kiehl, M., 3424T FitzGerald, L. M., 3491S Fjeld, K., 398 Flasch, D. A., 284 Flax, J. F., 1341T Fleischer, J., 2624S Fleming, L. R., 2630S Flower, K., 3430T Flynn, T., 1042S Fokkema, I. F. A. C., 1635S Foley, K., 2321S Fong, J. C., 1254T Fonseca, A. C. S., 3176T Fonseca, P. A. S., 675T Fontes, A. M., 3239S Forabosco, P., 1851S Forbes, J., 2355T Foreman, A. K. M., 2595M Forsberg, L. A., 295 Forster, J. R., 2334M Fortney, K., 940S Foster, J., 2908S Fowler, D. M., Session 71 Fox, J., 714M Fox, K., 599M Francescatto, L., 3415T Franceschini, N., 752M Francisco, V., 2418S Franco, B., 2718M Frank, C. L., 163 Franke, A., 952S Frankish, A., 159 Franklin, C. S., 950M Fraser, J. L., 2265T Freitag, D. F., 57 French, C. E., 403 Fridman, C., 1944M Frikha, R., 2809S Fritsche, L. G., 387 Fromer, M., 347 Frullanti, E., 3451T Fu, A. Q., 1938M Fu, J., 1079M Fu, X., 440T Fuchsberger, C., 151 Fujimoto, A., 134 Fukuoka, M., 536M Fungtammasan, A., 1372M Furgason, J. M., 3346T Furlotte, N., 1050T Fusco, F., 2994T Fusi, N., 169
G Gaasterland, T., 90 Gaddis, N. C., 1177S Gadomski, T. E., 2248M Gagliano, S. A., 1748T
Gai, X., 1373T Gail, E. H., 684M Gajecka, M., 558T Galinsky, K. J., 156 Gallagher, C. J., 3240M Gallagher, M. D., 1188T Gallego, C. J., 326 Gallegos-Arreola, M. P., 3291M Gamage, T. H., 3141S Gamazon, E. R., 669T Gambello, M. J., Session 8 Gambin, T., 51 Gandin, I., 1114S Gandolfi, B., 2881S Gandomi, S. K., 2544M Ganguly, A., 3492M Ganguly, B. B., 2451M Ganna, A., 2059S Gao, C., 956M, 1103M, 1852M Gao, F., 2027S Gao, X., 962M Gao, Z., 1954M Garcia, A. M., 2773T Garcia, D., 1284T Garcia, M. R., 2657S Garcia, O. A., 1982M Garcia, R., 3335S Garcia, S., 2943T García-González, I. J., 2036M García-Robles, R., 2857S Garieri, M., 556S Garraway, L. A., Session 70 Garrison, N. A., 2331T Gasperikova, D., 2292M Gassmann, M., 1437S Gattas, G.JF., 3419S Gaulton, K. J., 58 Gauthier, J., 2471S Gauvin, H., 2024M Gazzellone, M. J., 1218T Ge, J., 869M Ge, X., 632M Gecz, J., 117 Geister, K. A., 2870M Geller, F., 79 Gellera, C., 1219S Gennarino, V. A., 72 Gentil, C. A., 2863S George, A., 2752T George, R., 2808S Gerber, E., 2872S Gerber, M., 3241T Germain, D. P., 364 Germain, M., 945T Germer, S., 1694T Gerstein, M., Session 4 Getz, J. E., 3493T Ghaffari, G., 600T Gharahkhani, P., 3494S Ghazavi, N., 2449T Ghosh, S., 1671S Ghoussaini, M., 3226T Gianfrancesco, F., 3441M Gianfrancesco, M., 1038T Giannuzzi, G., 3177T Gibbs, D. C., 2609S Gignoux, C. R., 2864S
SPEAKER AND FIRST AUTHOR INDEX Grati, M., 2882M Gravel, S., 106 Gray, S., Session 11 Greenlees, R., 2879M Greer, S., 3359S Greger, V., 2796S Gregory, S. G., 396 Griesi-Oliveira, K., 1291S Griffin, L. B., 1308T Grisolia, M., 2259T Griswold, A. J., 1376T Grochowski, C. M., 2712M Grønskov, K., 2921M Gross, J., 443M Gross, S. M., 568S Grove, M. L., 842M Grubert, F., 238 Gruhn, J., 224 Gu, S., 308 Gu, Y., 2225T Guan, M., 762T Guan, P., 1717M Guan, W., 1784T Guan, Y., 1745T Guauque-Olarte, S., 2142M Gudbjartsson, D. F., 2022M Gudmundsdottir, V., 1549M Guella, I., 1124M Guenat, D., 3486M Guerin, A., 2648S Guerreiro, R., 1248T Guettouche, T., 1620S Guffanti, G., 601S Guidugli, L., 3413S Guilherme, R. S., 3206T Guillen Ahlers, H., 515M Guimaraes, P.EM., 520S Guipponi, M., 110 Gujral, M., 602M Gulsuner, S., 1206T Gunda, P., 917M Guo, C., 850S Guo, D., 2037S Guo, J., 3072T Guo, S., 1430T, 2201S Guo, T., 2140M Guo, W., 1813M Guo, Y., 1170T, 1868T Gupta, A., 3325T, 3454T Gupta, R., 1611S Gurdasani, D., 174 Gusev, A., 936T Gustavsson, E. K., 1077T Gutiérrez-Malacatt, H., 3455S Guzel, E., 3456M Gymrek, M., 661S
H Haag, C., 1521S Habashi, J. P., 363 Haddad, B. R., 320 Haddad, R. A., 2330M Hadid, Y., 3242S Hadipour, F., 2295T Hadjidekova, S. P., 2645S Hadjixenofontos, A., 1085M Hagelstrom, R. T., 2484M
Hager, V., 1735M Haghigatfard, A., 1345S Hahn, C., 1793T Hahn, S., 2527T Hakonarson, H., 1522M Hakosalo, O., 1178M Hall, A., 2756S Hall, J., 1875S Hall, M. A., 1036S Haller, G., 179 Haller, M., 3012T Hamdan, F. F., 2931T Hamel, N., 3425S Hamid, M., 2479T Hamilton, J. G., 2384S Hamilton, K. L., 197 Hamon, J., 1874T Hamosh, A., 172 Hampe, J. E., 424T Han, B., 258 Han, E., 1501M Han, H., 1563S Han, P., Session 48 Han, Y., 3243M Hancock, D. B., 243 Handsaker, R., 603T Hanein, S., 2536T Hangul, C., 3336M Hanna, D. S., 1363M Hannah, W. B., 2891M Hänninen, U. A., 3365S Hansen, J. N., 71 Hansen, M. E. B., 575M Hanson, H., 3420M Hanson, R. L., 894T Hao, K., 3326S Haraksingh, R. R., 604S Hare, A. E., 208 Hariharan, R., 1485S Harismendy, O., 3360M Harmanci, A., 581M Harney, L. A., 3164T Harrell, M. I., 3361T Harrington, E. A., 2301T Hartiala, J., 2091S Hartikainen, J. M., 3457T Hartshorne, T., 738M Hasin, Y., 658S Haskell, G. T., 2126M Hassed, S., 290 Hatano, C., 1278T Hatton, E., 5 Hatzikotoulas, K., 1179T Hause, R. J., 247 Hauser, N., 2217T Hawwari, A., 2997T Hayashi, S., 269 Hayeck, T., 1746S Hayeems, R. Z., 2339T Hayes, J., 3292T Hayes, M. G., 1099S Hazra, A., 3402M He, J., 137 He, M., 146 He, X., 1732M He, Z., 1832T Healy, J., 3362S Hebbring, S. J., 168 Heckerman, D., 1458S Hedayati, M., 3363M
Hedges, D. J., 2127S Heeley, J., 2704T Hegde, M., 2230M Heidary, M., 138 Heilmann, S., 1119T Heinrich, V., 1377S Heitzer, E., 3410S Helle, J. R., 3078T Hellwege, J. N., 1093S Helman, E., 1486M Hemmrich-Stanisak, G., 562S Hendricks, A. E., 777T Heredia, N., 1695S Hernandez, W., 2092M Hernandez-Amariz, M. F., 2249T Hernandez-Bello, J., 1026T Hernandez-Garcia, A., 3147S Herrera-Salazar, A., 1321S Heselmeyer-Haddad, K. M., 3477M Hess, K., 678T Heydarpour, M., 2109S Hicks, B., 1688T Hicks, C., 1378M Hicks, J. E., 1092T Hiekkala, M. E., 1263T Hill, T. M., 1711M Himmelstein, D., 1073M Hindorff, L. A., 977M Hinds, D. A., 1005T Hirsch, J., 1636M Hitomi, Y., 790S Ho, Y.YW., 978T Hobson, G. M., 2869S Hochner, H., 933T Hochreiter, S., 2004M Hodgkinson, A., 547S Hodgkinson, K., 2156M Hoefsloot, L. H., 315 Hoffman, E. P., 1626S Hoffman, G. E., 666T Hoffman, J. D., 1071T Hoffmann, R., 1752S Hoffmann, T., 2085S Hofstra, R., 3041M Holingue, C., 753T Holland, C., 2555S Holm, I., 2357T Holohan, B., 380 Holzinger, E. R., 742S Homburger, J. R., 1915S Hong, C. S., 605M Hong, D., 1273S Hong, K., 1621M Hong, M., 953M Hood, R. L., 3034S Hook, D., 2297T Hook, E. B., 2616M Hooker, G., 2422T Hooker, S., 177 Hor, C. N., 919S Hor, H., 69 Hore, V., 262 Horii, A., 3244T Horikoshi, M., 1090S Hormozdiari, F., 1228S, 1794S
SPEAKER/FIRST AUTHOR INDEX
Gilissen, C., 49 Gill, N., 2172M Gilliam, D., 2044M Gillis, J., 2269T Gilmore, M., 2376M Gimelbrant, A., 499M Gimenez, L. G., 2851S Gingeras, T. R., 542M Giovanella, J., 1043M Giovanni, M. A., 319 Giovannucci Uzielli, M., 2665T Giraldo, G., 1520T Girard, E., 65 Giri, A., 844S Girirajan, S., 191 Gjesing, A. P., 893M Glassberg, E., 1947S Glazer, D., Session 3 Glessner, J. T., 182 Glicksberg, B. S., 1552M Glogowski, E., 2368M Glubb, D. M., 336 Glusman, G., 40 GO, M., 976S Goddard, KAB., 3495M Godfrey, M., 322 Goker, B., 3452S Golan, D., 1788S Gold, N. B., 2369T Goldfeder, R. L., 1506S Goldin, L. R., 3324M Goldstein, A. M., 748S Goldstein, J. I., 399 Gole, L., 3195T Golhar, R., 1374S Gollery, M., 1484T Gollub, J., 1601T Golzio, C., 584M Gomide, H. M., 1276S Goncalves, F., 871S Gonsalves, S. G., 2226M Gonzaga-Jauregui, C., 73 Gonzalez, M., 1672M Gonzalez Santos, J., 2222M Gonzaludo, N., 719S Good, B. M., 1375M Goodman, S. J., 441M Gopalakrishnan, S., 1277M Gopalan, S., 442T Goracci, M., 500T Gorce, M., 2640M Gordon, A., 720M Gordon, C., 2938S Gordon, L. N., 3453M Gorijala, B. C., 881M Gorman, E. B., 2483S Gormley, P., 75 Gorski, M., 1014T Gosset, N., 118 Goto, M., 3170T Gourna, E. G., 2356M Govindavari, J., 2307S Goyal, S., 2887S Graff, M., 181 Graham, B., 2299T Graham, R. P., 3508T Grandhi, S., 1558M Grange, D., 2711S Granka, J. M., 2003S
247
248
SPEAKER AND FIRST AUTHOR INDEX
Horne, B., 188 Horovitz, D.DG., 2404S Hosen, M. j., 1551S Hosomichi, K., 2480S Hosseini, M., 3293S Hosseini, S., 946S Hosseini, S. A., 2270M Hossein-nezhad, A., 503M Houtman, M., 820S Hovatta, I., 1190M Howrigan, D., 343 Hoyt, K. L., 1160M Hrebicek, M., 2244M Hsi, E., 444T Hsiao, CF., 3245S Hsiao, M., 309 Hsieh, P., 108 Hsu, A. P., 2995S Hsu, C., 1459M Hsu, C. J., 2950S Hsu, Y., 180 Hsueh, W.-C., 26 Hu, C., 1027S Hu, H., 1379T, 1891S Hu, L., 1720M Hu, X., 393 Hu, Y., 963T Hu, Y. J., 1761S Huan, T., 656M Huang, A., 2646M Huang, H., 1097M, 2806S Huang, J., 184, 2220M Huang, K., 851M Huang, M., 1935S Huang, S., 1955S Huang, W., 1380S Huang, Y., 1568T Huang, Z., 1593S Huber, C., 3098M Huckins, L. M., 1161T Huentelman, M. J., 1335T Huerta-Sanchez, E., 1966M Huffman, J. E., 2086M Hufnagel, R. B., 267 Huggins, W., 1012S Humphries, C., 1292M Hung, I. H., 3144S Hunter, J. E., 2543S Hunter, J. M., 2899S Huntington, N., 2372M Huq, A., 1221T Hurtado, PM., 2705S Hurtado-Hernadez, l., 3158T Husain, M., 2774S Hutchinson, R. G., 3199T Huyghe, J. R., 355 Hwang, J., 947M Hwang, JH., 3364T Hwang, K. J., 685S Hwang, Y.-C., 164 Hytönen, M., 2875S
I Iakoucheva, L. M., 1298M Ibrahim, A., 485M Igartua, C., 929M Iglesias, A., 3039T
Iglesias Gonzalez, A. I., 811S Ikari, K., 816T Ilagan, B. J., 2784M Im, H. K., 1769T Imagawa, E., 2214M Imai, A., 2143S Imanishi, T., 1381M Imbachi, L. F., 2610M Imtiaz, A., 2946T Inagaki, H., 498T Inamine, T., 821M Inche, A., 801T Inglese, J., Session 8 Ingram, M. A., Session 5 Inoue, K., 114 Ioannidis, N. M., 528T Ionita-Laza, I., 1722S Iossifov, I., 14 Iotchkova, V., 1747M Iqbal, Z., 1282S Irving, M. D., 2713T Isasi, R., 2336M Ishihara, N., 2688M Ishiura, H., 2916T Ito, S., 2836S Iverson, C. C., 3458S Iyer, J., 193 Iyer, R. K., 2472M Izumi, K., 3026M
J Jaafar, Z.MT, 3186T Jackson, L., 1487T Jacobs, M. M., 1148M Jacobsen, J., 2744S Jacquemont, S., 211 Jakubek, Y. A., 1606M Jalas, C., 2821S Jamal, L., 2358M Jamal, S. M., 218 Jamaldini, S.Hamid., 2128M James, P. M., 2236M James, R., 1382T Jamshidi, J., 1149T Jamuar, S. S., 2770T Janatova, M., 3246M Janavicius, R., 3247T Jang, S., 2782T Jang, S. Y., 411M Januszkiewicz-Lewandowska, D., 3399M Järve, M., 1894M Jasinska, A. J., 662M Javadiyan, S., 388 Jaworski, J., 1135S Jay, F., 2005S Jeff, J. M., 402 Jeffries, A. R., 490T Jenkins, E. C., 3163T Jenkins, G., 1853T Jenkins, M. M., 1802T Jenkins, S. E., 2400S Jenks, A., 2304S Jeong, C., 979S Jerde, C. R., 693S Jerome, J. P., 1696M Jervis, G. A., 2554T
Jha, A. R., 1960M Jhaveri, S., 2702S Ji, J., 310 Ji, S., 980M Jia, P., 3366M Jian, X., 1488S Jiang, J., 1327S Jiang, Q., 3367T Jiang, Y., 1836S, 1885M Jiao, H., 802S Jin, H., 2553M Jin, Y., 89 Jobling, R., 2837S Jodczyk, S., 1325M Joensuu, A., 1017T Johansson, H., 1701S Johansson, S., 3079S Johnson, A. M., 3248S Johnson, E. O., 822T Johnson, M. E., 1651M Johnson, R., 1502T Johnson, T. A., 981T Johnston, H. R., 624T Johnston, J. J., 46 Jones, S. J., 3496T Jonsson, A., 836M Joo, J. W., 1383S Joosten, M., 2838S Jorgenson, E., 1180S Joseph, G., 325 Joshi, A. D., 271 Joshi, P. K., 1091M Jostins, L., 1066S Jouan, L., 1264S Jougheh Doust, S., 1547T Jouni, H., 2396S Ju, W., 1164T Juárez, A., 2245T Jun, G., 1181M Jung, J., 982S Jung, Y., 2832S Jurgens, J., 2224M Jurkowska, M., 2457M Justice, A. E., 763S Justice, C. M., 889S Juthe, R., 2319S
K Kaartokallio, T., 808S Kahrizi, K., 3075T Kamakari, S., 3128M Kamath, N., 2986S Kambouris, M., 2894M Kameli, R., 2076M Kamitaki, N., 1754T Kammin, T., 305 Kan, S. H., 2195S Kaname, T., 2682M Kaneko, Y., 3277T Kang, E., 1753M Kang, H., 1594M Kao, C., 606T Kapalanga, J., 1137T Kaper, F., 3178T Kaphingst, K. A., 2359T Kaplanis, J., 1837M Kapoor, A., 1030S Kar, B., 3213T
Karaca, E., 45, 3459M Karczewski, K. J., 85 Kariuki, S. N., 983M Karlin-Neumann, G., 1670T Karlsson, E. K., 11 Kashimura, A., 884M Katsanis, N., Session 10 Kattman, B., 1523T Katz, A., 2157S Kauffman, T. L., 2795S Kaufman, D., 215 Kaufman, J., 1679T Kaur, A., 3118S Kaur, A., 2800S Kaur, H., 2416S Kaur, M., 2006M Kaur, N., 1015S Kaur, T., 877S Kaustio, M., 2999M Kavasoglu, A., 2683T Kawai, Y., 2007S Kay, C., 2208M Kayoko, T., 3403T Keating, B. J., 2510S Keaton, J. M., 839M Keen, JC., 677M Keene, K. L., 414T Kehdy, F., 1905S Kehr, B., 38 Kehrer-Sawatzki, H., 607S Keinan, A., Session 9 Kekis, M., 3209T Kellis, M., Session 73, 239 Kennedy, A. E., 1028M Kennemer, M., 1431S Kenny, E. E., 1906M Kent, J. W., 1037M Kenyon, C., 2839S Kerr, I. D., 2440T Keyser, M., 1569S khajuria, r., 2239T Khalifa, M., 2722T Khan, N., 366 Khan, S., 2956S Khan, W. A., 3162T Khatib, F., Session 6 Khawajkie, Y., 2312S Kheradpour, P., 529S Khoja, H., 2426S Khor, S., 1489M Khoury, M., Session 3 Khromykh, A., 2739M Khurana, E., 1637T Kichaev, G., 868S Kido, T., 3134S Kilpeläinen, T. O., 1044T Kim, B., 608M, 984T, 1983S, 3142S Kim, C., 954T, 2231T Kim, D., 359 Kim, G., 2749T Kim, GY., 2196M Kim, H., 413M, 2538M Kim, H. J., 445M Kim, HL., 1991S Kim, J., 674M, 3114T Kim, J. H., 1490T Kim, K., 491M Kim, K. W., 985S Kim, S., 647M, 1438M,
SPEAKER AND FIRST AUTHOR INDEX Kruszka, PS., 2731T Kryukov, K., 1599S Ku, Y., 2008M Kuang, S. Q., 122 Kuchikata, T., 2611T Kukurba, K., 652S Kullo, I. J., 2130M Kulzer, J. R., 60 Kumar, A., 3062M Kumar, P., 3396M Kumar, R., 1849M Kumar, S., 2804S Kumar, S., 537T Kumar, V., 825T Kumar, Vanita., 1016M Kumari, P., 2695T Kumasaka, N., 1881S Kundu, K., 1456M Kunkle, B. W., 1236T Kural, D., 1384M Kurihara, L., 1623S Kuroda, Y., 2693S kushmakar, s., 2329S Kvikstad, E. M., 63 Kvitek, D. J., 2508M Kwan, J., 1773S Kwasniewska, A. C., 1689S Kwee, L. C., 447M Kwitek, A. E., 721S Kwong, A., 385 Kyle, S. M., 360 Kyöstilä, K., 3068M
L Labbé, C., 1151M Laberge, A. M., 2158M Labonne, J. D. J., 2654S Lafreniere, R. G., 1222S Lager, A., 2198M Lai, P. S., 3216T Lai, S., 3250T Lai, Y. Y. Y., 673S Laig, M., 1714M Lam, E., 609T Lamontagne, M., 813T Lan, X., 1932M Landrum, M. J., 3506S Lane, J., 1524S Lane, J. M., 872M Langefeld, C. D., 1970M Langouet, M., 1344T Lanni, S., 3025S Lansdorp-Vogelaar, I., 2390S Lapointe, G., 2380M Lappalainen, I., 626M Lappalainen, T., 241 Larsen, L. A., 2159S Larson, N. B., 530M Larson, P. A., 285 Lasko, P., 2398S Lasky, B. J., 3327M Lasky-Su, J., 1854S Lasseigne, B. N., 3460T Lattanzi, W., 2776T Lattig, M., 1337M Lau, Y., 3155S
Laufer, B. I., 510T Laukaitis, C. M., 3272S Laurino, M. Y., 2361T Lauson, S., 2066M Lavoie-Charland, E., 1020T Law, H., 2668T Law, M. H., 3294M Law, W., 533M Layer, R. M., 87 Lazar, M., 2458T Lazaridis, I., 102 Lazarin, G. A., 2801S Lazier, J., 2840S Le, S., 2280M Leak, T., 645T Leal, S. M., 204 Lebedev, I., 3188T Le Caignec, C., 2045S Le Clerc-Blain, J., 2408S Lederer, D., 2587T Leduc, R. Y. M., 3148S Lee, A. S., 222 Lee, B., 1491S, 2298M Lee, B. N., 1708M Lee, D., 1385T, 1386S, 1762M Lee, D. E., 2827S Lee, H., 370 Lee, J., 2256M Lee, K., 1550T Lee, M., 2593T Lee, M. P., 412T Lee, SY., 548M Lee, W., 41 Lee, Y., 1758S, 1780M, 2867M Lefebvre, M., 2362M Lehmann, K., 3295T Lehne, B., 448T Lehnert, K., 3115S Lei, Y., 766S Leinonen, J. T., 906T Lek, A., 2876M Lemay, P., 1070M Lemmelä, S., 826S Lemmers, R. J. L. F., 481M Lemus-Varela, ML., 2080M Leongamornlert, D. A., 3251S León-Moreno, L. C., 2020M Lerner, B., 2409S Lesage, S., 1143T Leslie, E. J., 867T Leslie, S., 104 Lesmana, H., 2785T Lesnick, J. D., 1690M Lessard, S., 755M Lesueur, F., 3478T Leung, M. L., 64 Leung, T., 226 Leunge, Y.Y., 540T Levesque, S., 2229T Lévy, J., 3165T Levy, P. A., 2276M Lewis, D., 837T Lewis, J., 687S Lewis, K. L., 2371T Lewis, M. J., 397 Lhota, F., 3252M Lhotska, H., 3434S
Li, A. H., 100 Li, B., 1736T Li, C., 1856T Li, D., 791M Li, H., 638M, 987T, 2515T LI, H., 523S Li, J., 988S, 1355M, 1795M, 1971S, 2467T Li, L., 694M Li, M., 1876M Li, MJ., 1639M Li, Q., 1840M Li, R., 504T Li, S., 449M, 1112M Li, T. C., 845M Li, W., 688M, 922S, 1774M, 2525S Li, X., 663T Li, Y., 538S LI, Y., 1387M Li, Y. R., 986M Liao, K., 1984M Liao, L. N., 846T Liao, W., 1439T Libiger, O., 1916M Lihm, J., 1388T Likins, L., 1933S Lim, B., 2841S, 3368S Lim, E. T., 1234S Lim, J. E., 2097S Lim, J. H., 505M Lim, J. S., 76 Lima, L. A., 1525M Limgala, R., 2186M Lin, D., 1880T Lin, E., 1713S Lin, H., 1770S Lin, K., 1842S Lin, N., 1677S Lin, W., 1838T Lin, Y., 1087S Lin, Y. H., 2944S Lincoln, S., 2444S Lind, L., 1548S Lindhurst, M. j., 2769M Lindor, N. M., 3497S Lindstrand, A., 892S Lindstrom, S., 1796T Linghu, B., 1389S Linker, S., 534T Links, A. E., 2592M Linse Peterson, G., 205 Lipinski, S., 2255T Lipner, E. M., 1065T Liu, C., 588T, 695S, 1898M, 2099S Liu, D., 199 Liu, F., 2038M Liu, H., 2996M, 3033T Liu, J., 1771M, 3189T Liu, K., 2877T Liu, P., 2741S Liu, W., 3404S Liu, X., 1207S, 1985S, 2009S, 2814S Liu, XZ., 2498S Liu, Y., 610S, 2818S, 2941S Liu, Z., 2098M Llewellyn, K. J., 2210M Lnu, A., 1604T
SPEAKER/FIRST AUTHOR INDEX
2854S Kim, S. Y., 446T Kim, T., 3223T Kim, Y., 3099T, 3193T, 3388T Kim, YM., 2246M Kim-Howard, X., 823S Kimmel, S. E., 2566T Kimonis, V. E., 2689T Kingsmore, S. F., 2577M Kinrich, A. M., 2272M Kirkpatrick, B. E., 2415S Kirtas, E., 2649M Kizys, M. M. L., 2957M Klambauer, G., 1584S Klar, J., 875M Klimentidis, Y. C., 1045S Klovins, J., 824M Kmoch, S., 3013S Knight, J., 686M Knight, S., 2166M Knight Johnson, A., 1330S Knoppers, B. M., 2351T Knowles, D. A., 521M Ko, A., 183 Ko, EK., 2813S Koboldt, D., 32 Kocarnik, J. M., 2352M Koch, E., 1961S Kodera, H., 2939M Kodira, C., 333 Koduru, P., 3337T Koenig, B. A., Session 74, 2360M Kohda, M., 2983S Koike, A., 1638S Kojima, K., 1454T Kolicheski, A., 3066T Kondkar, A., 585T Kong, X., 509M, 2053S Konkel, M. K., 286 Konvicka, K., 1455S Kooy, F., 1338T Kopajtich, R., 143 Koparir, A., 2958T Koparir, E., 2578T Korbel, J., Session 4 Korenberg, J. R., 2621S Korlach, J., 1622T Korvatska, E., 907S Kosaki, K., 2423S Koshimizu, E., 2740T Kosho, T., 2170M Koskenvuo, J. W., 2129S Kosmicki, J. A., 1204S Kosuga, M., 2279T Kote-Jarai, Z., 3249M Kottyan, L., 856S Kousa, Y. A., 3137S Kousi, M., 670S Kraja, A. T., 1660M Kremer, L., 2234M Kretzschmar, W., 150 Kriebel, J., 417M Kriek, M., 2305S Kripke, D. F., 1150S Krjutskov, K., 1700T Kroisel, P. M., 3056M Kruczek, P. M., 3036T Kruisselbrink, T. M., 2385S
249
250
SPEAKER AND FIRST AUTHOR INDEX
Lo, C., 1440S Lo, K. S., 778S Lo, Y. M. D., Session 69 Lo, Y. Y., 1806S Locke, A. E., 275 Loeza-Becerra, F., 2025S Lofgren, S. E., 1052M Logue, M. W., 849T Loguercio, S., 1441M Loh, M., 187 Loh, P., 200 Lohmueller, K. E., 2010M Loken, E. K., 1265M Lomash, A., 2237T Long, P. A., 2968S Loo, J., 1936M Lopez, J. P., 1352M López Quintero, A., 1907S Lose, F., 3253T Lotta, L. A., 840T Lou, H., 3405M Lourenco, C., 2291T Low, S., 3296S Lowdon, R. F., 1473S Lowther, C., 1125T Lozano, R., 1360S Lu, A., 1555M Lu, D., 2011S Lu, F., 3406T Lu, I., 2567S Lu, Y., 272, 1945S, 3297M Luca, F., 648T Ludwig, K. U., 78 Luedeke, M., 3498M Luetkemeier, E., 214 Lum, P., 1673T Luo, J., 916S Luo, M., 3185T Luo, Y., 358 Luostari, K., 3431S Lutz, M. W., 1553T Lutz, s., 1847T Ly, K. N., 926M Lynch, D. C., 3108T Lyon, G. J., 3021T
M Ma, C., 1730T Ma, D., 2625M Ma, Q., 938M Ma, S., 1589T Mabuchi, F., 1031M MacArthur, D. G., 94 Macciardi, F., 1272T Macedo, W. C., 1142M Macgregor, S., 989M Machado, M., 1570M Machaj, A., 3426M Machida, J., 743M Machiela, M. J., 3179T Machini, K., 2455T Maciukiewicz, M., 701S Madar, A., 254 Madeo, M., 1240S Madrigal, I., 2742M Maftei, C., 2790S Magalhães, W., 1526T Magi, R., 770M
Magri, S., 1266T Maguire, J., 1442T Mahajan, A., 852T Mahdieh, N., 2568M Maher, G. J., 225 Maihofer, A. X., 1182T Maiti, A. K., 904S Majid, S., 713S Majithia, A., 66 Majolini, M., 2516S Mak, A. C. Y., 676S Makalic, E., 3315M Makishima, S., 2069S Makrythanasis, P., 2799S Malhotra, D., 1237S Malinowski, J., 2414S Mallick, S., 109 Maltsev, N., 1390M Mancini, G. M. S., 3080M Mancini-DiNardo, D., 3499T Mandal, D., 3500S Mangul, S., 1333S Manickaraj, A., 2107S Manjegowda, D. S., 964S Mankoski, R., 2281T Manley, W., 1304M Mannermaa, A., 555T Männik, K., 612T Manning, A. K., 56 Manoli, I., 2266M Manrai, A. K., 2473T Mansour, H., 1133M Manz, J., 913S Manzardo, A. M., 1126S Maples, B. K., 1908M Marble, M., 2634M Marceau, R., 1857S March, M. E., 703S Marchini, J., 24 Marcou, C. A., 3338S Marcus, J. H., 2012M Marigorta, U. M., 1861M Marin-Melo, J., 2767T Markello, T. C., 2303S Markunas, C. A., 450T Marques, C. S., 827M Marques, F. A., 3207T Marschall, C., 2545T Martin, A. R., 1962M Martin, E. R., 1786M Martin, H. C., 672T Martin, N. G., 941M Martin, O., 2382M Martinelli, D., 2290M Martinelli Boneschi, F., 908M Martinez, J., 722M Martinez Lopez, M., 814S Marvin, C. T., 3117T Marycheva, N. M., 2661M Mashl, R. J., 1678M Masino, A., 1718T Mason, A. G., 531T Matoba, N., 1216S Matos, A. H. B., 1165S Matsumoto, N., 2940T Matsuo, H., 1110T Mattapally, S., 2039S Matvienko, M., 1391T Matyakhina, L., 3171T
Maurano, M. T., 158 Maxwell, K. N., 3273M Maya, I., 2306S Mazurova, S., 3109S Mazutti, M. G., 1267S Mazzotti, D. R., 828T McCarroll, S., Session 4 McCarthy, S. A., 86 McClay, J. L., 451M McClelland, K., 2232M McDonald, M., 1082M McDonald-McGinn, D. M., 306 McDonnell, SK., 1815S McDowell, I., 650M McEachin, R. C., 1058M McElwee, J., 84 McGeachie, M., 990T McGee, S., 1503S McGuire, A. L., Session 11, 221 McGuire, P. J., 2286M McHugh, C., 1850T McHugh, P. C., 1283M McLaren, P. J., 863M McLean, J., 2363T McMichael, G., 754S McRae, J., 1889T McVicker, G., Session 75 Mead, C. L., 2524T Mechanic, L. E., 3393M Medina, I., 1451T Medland, S. E., 1328M Medne, L., 3081T Meduri, E., 549T Meeks, N. J. L., 2569T Mefford, J., 1863S Mehawej, C., 133 Mehrjoo, Z., 1208M Mehrtashfar, S., 2070M Mehta, A., 1463T Meijers-Heijboer, H., 2802S Meissner, T., 1432M Melaragno, M., 2615S Melas, M., 3501M Melegh, B., 739S Melki, J., 263 Melo, M. B., 1896M Meltz Steinberg, K., 628S Mencarelli, M., 231 Mendez, F. L., 1899S Méndez'Hernández, A., 3461S Mendiratta-Vij, G., 2746T Mendoza-Londono, R., 2684S Mentch, F., 1268M Mentoor, J. L. D., 3369M Mentzer, A. J., 707S Merideth, M., 289 Mersha, T. B., 1556T Messemaker, T., 541S Metlapally, R., 506T Metodiev, M., 145 Meyer, A., 3437S Meyer, K. B., 1433T Meyn, M. S., 2493M Mez, J., 1194T Mezlini, A. M., 1657M
Mhlanga-Mutangadura, T., 3063T Micale, L., 3022S Michailidou, K., 3254S Michelson-Kerman, M., 2614T Michot, C., 3110M Middha, M., 2502M Middha, S., 368 Miga, K. H., 1586T Migita, O., 611M Mignot, E., Session 72 Mijatovic, V., 1562T Mikhaleva, A., 1152T Mikheev, M., 1392S Mikkelsen, T., Session 71 Mila, M., 2487M Milan, D. J., Session 10 Milani, C., 452T Milani, L., 453M Miles, J. H., 2171S Milko, L. V., 2586M Miller, F. A., 2395S Miller, J. M., 2391S Miller, M. J., 373 Miller, N., 2233T Millot, G. A., 2435S Mills, R. E., Session 4 Millwood, I. Y., 2164M Milo Rasouly, H., 3015T Miltgen, M., 1393M Milunsky, J., 2427M Mimendi Aguilar, G. M., 1029T Min, B., 2552S Mina, E., 1640T Minari, J., 2346M Minasi, L. B., 3210T Minikel, E. V., 1255S Minster, R. L., 1884S Miozzo, M., 3432M Mirabello, L., 297 Miroballo, M., 1917S Mirtavoos-Mahyari, H., 2794S Mirzaa, G., 2988T Mishra, A., 829S Mishra, K., 3407S Mistri, M., 2240M Mitchell, S. L., 1305T Mittal, B., 2054M Miyagawa, T., 1127M Miyake, K., 2517M Miyake, M., 928S Miyake, N., 126 Miyatake, S., 1331M Mizuno, S., 2672S Mo, H., 704M Moens, C. B., Session 10 Mohamed, A., 3211T Mohan, S., 3462M Moisan, S., 517S Moitra, K., 2322S Molineros, J. E., 1918M Mollaei, H., 3412T Molloy, B., 890M Moltke, I., 895S Monfared, N., 2338M Monies, D., 2989S Monroe, G. R., 2570S
SPEAKER AND FIRST AUTHOR INDEX
N Naber, S. K., 2589M Nadyrshina, D. D., 3100S Nafisinia, M., 2906M Nagai, F., 2203S Nagasaki, M., 2028M
Naj, A. C., 196 Najmabadi, A., 2690S Najmabadi, H., 115 Naka, I., 1952M Nakada, T., 830M Nakagawa, S., 1923S Nakamura, A., 2199S Nakamura, R., 1224T Nakamura, S., 2192M Nakano, M., 991S Nakaoka, H., 901S Nakashima, M., 1214M Nakhleh, L., 1893S Nakka, P., 1909S Nakorchevsky, A. A., 2534S Nalbandian, A., 2176M Nallari, P., 2046M Nambot, S., 307 Nandineni, M. R., 1704S Nantakomol, D., 3002M Narahara, M., 563M Narasimhan, V., 99 Nariai, N., 1395S Nassir, R., 1910M Nataraj, N., 3371S Nato, A. Q., 1342S Nauman, N., 2855S Navarrete, J., 2268M Navarrete Meneses, M. P., 3504M Navarro-Gomez, D., 1396M Ndungu, A., 792T Neary, J., 1329T Neff, R. A., 37 Negishi, Y., 2691M Neidich, J., 2446T Neininger, A., 619S Neklason, D. W., 300 Nelen, M., 2518T Nelson, G., 1465M Nelson, J. M. T., 1138S Nelson, L., 992M Nelson, M., 2474S Nelson, S. C., 220 Nelson, S. F., Session 8 Neogi, A., 2725T Nevala, E., 2152M Neveling, K., 2842S Nevin, D. A., 2247T Nevin, Z., 3089M Ng, D., 734M Ng, M. C. Y., 993T Ng, S., 1492M Ngu, L. H., 2250M Ngun, T. C., 493M Nguyen, K., 2110M Nguyen, K.Ngoc., 2287T Nguyen, N. A., 689S, 1348S Nguyen, NMP., 2861S Nguyen-Dumont, T., 2529M Nho, K., 564T Nicholls, S. G., 2347T Nicholls, S. M., 1397T Niculescu, A., 1641S Nieminen, T. T., 3328T Niemsiri, V., 2119S Niewold, T. B., 862S Nigro, V., 2491T Nijman, I. J., 3464S Nikolaev, S. I., 139
Nilbratt, M., 3044M Niranjan, T., 1311T Nishi, E., 2666S Nishida, A., 2181S Nishida, N., 1022M Nishikawa, S., 2019S Nishiyama, T., 1171S Nishizawa, D., 1183S Nissen, A. M., 3256T Niu, N., 691S Niu, Z., 2459S Nizetic, D., 3347S Noël, V., 2348M Nolan, M. R., 1926M Nolin, S. L., 2833S Noll, A. C., 1529T Noor, A., 3181T Norden-Krichmar, T. M., 1196M Norquist, B., 339 Norris, A. L., 3372M Norton, H., 1973S Noto, K., 155 Novembre, J., 105 Nowak, J., 2590T Nuangchamnong, N., 3130S Nudelman, K. N. H., 3257S Nuttle, X., Session 2 Nuytemans, K., 1530S Nyholt, D. R., 1139M
O Oak, N. R., 3279M Oberkanins, C., 2556M O'Brien, T., 3373T Oda, H., 3007S O'Daniel, J. M., 2353T Odent, S., 2650T Oetjens, M. T., 405 Offer, S. M., 406 Oh, S. S., 455M O'Hara, A., 3329S Ohmomo, H., 1816M Ohno, K., 1571T Ohno, M., 553S Oishi, K., 3023M Okada, Y., 853S Okamoto, N., 2626T Okawa, K., 620M Olde Loohuis, L. M., 1209T Olfson, E., 1215T Oliveira, C. P., 3200T Oliveira, M. M., 2604M Oliveira, S. A., 2419S Oliver, T., 3221T Olivier, M., 264 Ollila, H. M., 1141S Olsen, C., 1493T Olson, A., 2323S O'Mara, T. A., 3465M Onay, H., 2980S Ongen, H., 136 Onojighofia, T. G., 1940M Onoufriadis, A., 2933M O'Rawe, J. A., 1531M Ordal, L., 2781M Ordorica, S., 2460M Ordulu, Z., 3411M
Org, E., 576T Ori, A. P. S., 456T O'Rielly, D., 920M Orkin, S. H. H. H., Session 26 Orkunoglu-Suer, F. E., 2475M Ortega, R., 2263T Ortega Del Vecchyo, D., 1974M Ortiz, D., 2619M Osborne, C. M., 2308S Ostrander, E., 749M Ostrer, H., 341 Ostrovsky, O., 3440S Oswald, G. L., 294 ouled amar bencheikh, B., 1122T Outlaw, J., 2405S Ouyang, W., 1797S Oyama, F., 554M Ozaki, K., 2040M Ozbek, U., 696M Ozeki, T., 709S Ozel, A., 944M Ozen, M., 3433T Ozkan, E. G., 2900M Ozkinay, F., 2251T Ozturk Kaymak, A., 3474M
P Pachajoa, H., 2612S Padula, A., 3047M Pagani, L., 1975S Palacios-Reyes, M., 507M Palamara, P. F., 1956M Palasuwan, A., 1398S Palculict, T. B., 3258M Palmer, C., 1809S Palmer, M. R., 994S Palmer, N. D., 1089T Palomaki, G. E., Session 69 Palumbo, O., 2617T Pan, Q., 3374S Pan, S., 316 Pan, X., 501M Pandey, R., 896M Pandya, A., 2579S Pandya, R., 39 Panjaliya, R. K., 1919S Panos, L., 3427T Panousis, N. I., 2075S Papa, F., 2571M Pappas, J. G., 2724M Paquis, V., 268 Parikh, H., 582T Park, C., 1021S Park, D. S., 3298T Park, H., 2519S Park, J., 1136M Park, J., Session 5 Park, JH., 857M Park, M., 2969M Parker, G., 1605S Parkhurst, E., 2694M Parra, E., 1963S Pasaniuc, B., 29 Pastore, N., 2177S
SPEAKER/FIRST AUTHOR INDEX
Montenegro, M. M., 566M montiel, m., 2662T Moore, J., 1527S Moorjani, P., 1939S Mora, L.Ma., 2706M Moreira, D. P., 747T Moreno, C. A., 2951M Moreno-Ortiz, J. M., 3255M Morihara, T., 1285S Morini, E., 361 Morino, H., 1256M Morisada, N., 3008M Morisaki, H., 2131S Morishita, S., 1665S Morissette, R., 132 Morleo, M., 1528M Morris, A. P., 771T Morris, J. A., 492T Morrison, J., 1443S Mortier, G. R., 292 Morton, C. C., Session 48 Morton, Cynthia Casson, Session 1 Mosca, S. J., 2984M Mosca-Boidron, A., 3169T Mosley, J. D., 705S Mota-Vieira, L., 2635T Motazacker, M. M., 2063S Mouden, C., 3156S Moy, W., 1299T Moyerbrailean, G. A., 622S Mozaffari, S. V., 659M Mozhui, K., 454T Mu, J. C., 1394T Mudgway, R. J., 870T Mueller, P., 2485T Mukherjee, K., 3138S Mukherjee, S., 1158T, 1972M Mukhopadhyay, A., 213 Mukhopadhyay, N., 1829T Mullegama, S. V., 3029M Müller, C., 2095S Mumm, S., 3104M Munafo, D., 3370T Munger, S. C., 664S Munoz, L., 2165S Munroe, D. J., 1627M Muralidhar, S., 1803S Murphy, C., 1749S Murray, E. E., 2327S Musharoff, S., 2013S Musolf, A. M., 1781T Mussa, A., 291 Musso, A., 2600S Mutesa, L., 2393S Mutlu, Z., 3463T Muto, K., 2342M Muzny, D., 1685T Muzzio, M., 1967S Myers, CT., 1134T
251
252
SPEAKER AND FIRST AUTHOR INDEX
Patel, A., 3201T Patel, C. J., 1858M Patel, S., 1532T Patel, T. A., 2653T Patel, Y. M., 995M Paternoster, L., 391 Pathak, A., 3313T Pathak, S., 1712T Patino, L., 2696S Patowary, A., 1128T Patsopoulos, N. A., 1757T Patwardhan, A., 68 Paul, B. M., 2970T Paul, J., 3191T Pavlidis, P., 1399M Pawlikowska, L., 3124S Payne, F., 804T Pedergnana, V., 1798M Pedroza, L.SRA, 3482S Pelkonen, M., 3466T pellegrino, r., 948T Peloso, G. M., 2132M Pemberton, P. J., 1505T Pemov, A., 3395S Peña-Padilla, C., 2732S Pendergrass, S., 710M Peng, Q., 1897S, 1986M Penn, O., 194 Penney, K. L., 34 Penton, A. L., 3160T Peralta, J. M., 1789M Pereira, F.dosS., 3087T Pereira, V. G., 2228M Pérez, C. A., 3090T Perez Millan, M.Ines., 3018T Pérez Ramírez, M., 3339M Pérez Sánchez, M., 2452T Pérez-Vera, P., 3202T Pericak-Vance, M., 1343M Perovanovic, J., 378 Perrault, I., 2934T Perreault-Micale, C., 2461T Perry, C. G., 276 Pers, T. H., 346 Persad, P. J., 383 Pescatore, A., 3027T Peter, B. M., 2014M Peterlongo, P., 3259T Petersen, B.-S., 793S Peterson, C. B., 1782S Peterson, J. F., 723S Petkova, D., 1819M Petridis, C., 3260S Petropoulou, E., 2144M Petukhova, L., 900T Pezzolesi, M. G., 768T Pfeiffer, L., 457M Pfeufer, A., 583S Pham, X., 1312S Philibert, R., 458T Philippe, C., 3082S Phokaew, C., 1189S Phowthongkum, P., 2613M Picco, G., 2678S Pickett, B. D., 1612M Pierce, B., 646S Pierce, S. B., 1313M Pierson, E., 1105S Pietrzyk, A., 2673M Pietrzykowski, A., 479M
Pilarski, R., 3274T Pilie, P. G., 3282M Pillers, D., 2852S Pinard, A., 2113S Pinelli, M., 212 Pinto, I. P., 3203T Pinto, R. M., 914M Pipiras, E., 2714S Pique-Regi, R., 1477M Pirinen, M., 1873M Pisani, L., 2647T Pitt, J. J., 3502T Plaseska-Karanfilska, D., 2815S Platt, D. E., 1941S Plazzer, J., 1592T Plewczynski, D., 578M Plichta, D., 1083T Plon, S. E., 302 Plötz, T. A., 119 Poeta, L., 483M Polak, P., Session 75 Polla, D. L., 2726S Pollard, M. O., 1600M Poornima, S., 744T Popadin, K., 1930M Popejoy, A. B., 1931S Popic, V., 140 Popp, B., 3054T Poquet, H., 1129S Porras, A., 2817S Posey, J. E., 2971S Potluri, V., 3183T Povysil, G., 1994M Powell, B. C., 372 Powis, Z., 1172M Prada, C., 2060M Prasad, M., 2530T Prasad, R., 3035M Pratt, M., 43 Pratto, F., 671M Preuss, C., 2058M Priamvada, G., 724M Price, A., Session 73 Prieto, J., 2738S Prins, B. P., 2145S Priya, R., 1229M Probst, F. J., 634S Proitsi, P., 1166M Prokudin, I., 2697M Proukakis, C., 1144S Prows, C. A., 716M Ptacek, L. J., Session 72 Puebla-Pérez, A. M., 3299S Pugliesi, L., 2302M Pulyakhina, I., 3281S Punetha, J., 1790T Pupavac, M., 2252M Purmann, C., 3184T Pyeritz, R., Session 48
Q Qaadri, K., 3261M Qi, Q., 934S Qi, Z., 3192T Qiao, D., 745S Qin, H., 1750M Qing, J., 2499M
Qiu, H., 1642M Quillen, E. E., 1990M Quinto, C. D., 1911S Quon, G., 248
R Rabionet, R., 803M Raby, B., 2557T Racacho, L., 2987M Radke, D., 1957S Raffield, L. M., 1086T Raghupathy, N., 249 Ragoussis, I., 1498M Rahikainen, AL., 740M Rahman, A., 1887S Rahman, M. L., 1400T Rahman, N., 340 Raï, G., 1401S Raj, P., 630T Raj, S. M., 1046M Raj, T., 195 Rajagopalan, R., 2913T Raju, H. B., 1533S Ramachandran, D., 2089S Ramalingam, A., 2783S Ramalingam, S., 2333T Ramanathan, S., 2715M Ramdas, S., 1238M Ramírez-Patiño, R., 3300M Ramos, E., 1595T Ramos, G. B., 864T Ramos, P. S., 1976M Ramos-Silva, A., 699S Rampersaud, E., 574S Ramsey, B., Session 8 Ramzan, K., 2883T Ranade, S., 1583T Raney, B. J., 1494S Rangasamy, S., 2622M Ranjouri, M. R., 2787S Rapp, C., 3262T Rashkin, S., 1824S Raskin, S., 2670M Rath, A. M., 1719S Rausell, A., 97 Raveendran, M., 1943S Rawal, R., 459M Rawal, R. M., 1534M Rayner, N. W., 1402M Rebelo, A., 3069T Reddy, K., 2428T Reddy, T. E., 514S Rees, M. I., 3083M Regalado, E. S., 2167S Rehker, J., 1210S Rehm, H., Session 70 Reich, A., 3101M Reid, S. J., 3093T Reimand, J., 639T Reiner, J., 2495S Reinstein, E., 2707T Reiter, L., 567T Renaud, D., 2260M Renault, A., 3263S Rengmark, A. H., 1269T Renwick, A., 1403T Repetto, G. M., 2644T Repnikova, E. A., 2692T
Reppell, M., 1929S Restrepo, N., 831T Reyes-León, A., 3467S Reyes Ramirez, D., 2623T Reymond, A., 1295M Reynolds, R. J., 847S Rhead, B., 460T Ribaux, P., 589S Ribeiro-Bicudo, L., 2628M Ribes-Zamora, A., 2324S Richard, C., 2531S Richards, C. S., 323 Richardson, T. G., 2112M Richholt, R. F., 1323T Richterova, R., 912T Ricker, CN., 3428S Riggs, E., 303 Riley, B. P., 902M Rini, C., Session 11 Rios, J. J., 3111T Risch, N., 190 Risheg, H., 3218T Ritter, D. I., 3275S Rivas, M. A., 1731S Rivera, J., 2758T Roberson, E. D. O., 885T Roberts, A., 123 Robinson, P. N., 1643T Robison, R., 1404S Rocha, A.AN., 2761T Rockwood, S., 1667T Rodriguez, A., 1535T, 2055S Rodriguez, L. M., 1495M Rodriguez-Murillo, L., 125 Rodriguez-Revenga, L., 2572T Rogan, P. K., 3166T Rogers, A., 1924M Rohlfs, R., 1977S Rohlin, A. M., 3276M Rojas Martínez, J. A., 2607M Rojas-Pena, ML., 2033S Roman, T. S., 352 Romero, V., 1921S Romero-Diaz, A., 2601M Romitti, PA., 832S Romm, J., 1825M Ronen, R., 1978M Roney, J. C., 2238M Rongioletti, M., 2797S Roosing, S., 3031S Rosan, D.BA., 1249S Roscioli, T., 623M Rose, A. M., Session 5 Rosenfeld, J. A., 725S Rosenthal, E., 2441S Rosenthal, E. A., 812M Rosenthal, S. L., 1025M Ross, K. A., 1111S Rosse, S., 298 Rossi, M., 3340T Roter, A., 3172T Rousseau, J., 2476T Rowsey, R., 6 Royal, C. D., 2320S Roy-Gagnon, M.-H., 1737S Roytman, M., 1472T Royyuru, A., Session 3
SPEAKER AND FIRST AUTHOR INDEX
S Saadi, I., 1466T Sabatello, M., 2349T Sabourin, J. A., 1775T Sadedin, S., 1449S Sadler, B., 1964M Safavi, S., 3439T Saffari, A., 1279S Sahoo, T., 227 Sahota, A., 2183S Saisanit, S., 1536S Saitsu, H., 2735S Sajan, S. A., 2922T Sajuthi, S. P., 1734S Sakamoto, H., 1200T Salas-Labadía, C., 3222T Salazar-Dávalos, I. M., 2679M Salehi Chaleshtori, A. R., 1406T Salem, R. M., 1109M Salerno, W. J., 1590S Saletore, Y., 1474M Salgado, D., 1407S Sallah, N., 905M Salo, P., 2701T Samango-Sprouse, C., 362 Samocha, K., 198 Sanchez, A. I., 2780S Sanchez-Contreras, M., 1145M Sanders, A. R., 348 Sanderson, S. C., 2311S Sandoval-Pinto, E., 2047S Sandoval Talamantes, AK., 2720S Sanga, S., 2573S San Martin-Brieke, W., 2762S Sano, K., 2753S Santani, A., 371 Santoni, F., 525T Santos, L. C., 3469T Santos, P. C. J. L., 726M Santos-Cortez, R. L. P., 52
Sapkota, B. R., 2100M Sapp, J., 2364M Saradalekshmi, KR., 1157M Sarca, G., 2574M Sardell, R. J., 1084S Sarnowski, C., 486T Sarrafi, Z., 2811S Sasarman, F., 144 Satake, W., 1232M Sathirapongsasuti, F., 698M Sathyan, S., 833M Satizabal, C. L., 1195S Sato, Y., 1408M Satomi, R., 3180T Satten, G. A., 1724T Sauer, S., 2108M Saunders, C., 2959S Saunders, E., 3264M Savage, S., 219 Savard, J., 2377T Sawai, H., 996T Schaefer, C., 350 Schaid, D., 1845S Scherer, S. W., 209 Schierup, M. H., 9 Schiffels, S., 103 Schleede, J. B., 2490M Schleit, J., 1608S Schlesinger, F., 1607T Schmidt, D. F., 3316T Schmidt, E., 1645M Schmidt, J., 3330M Schmidt, M. H. M., 3061S Schmitt, C. A., 923M Schmitz-Abe, K., 1153S Schneider, V. A., 1624M Schoenberg-Fejzo, M., 2862S Schormair, B., 1810M Schrader, K. A., 3310T Schrauwen, I., 3094S Schreiber, E., 1573M Schreml, J., 288 Schrijver, I., 2547M Schüle, R., 3084T Schulte, E. C., 1270S Schuurs-Hoeijmakers, J. H. M., 1281T Schwartz, S., 62 Schwarze, U., 3112S Schweitz, M., 2822S Scott, E. M., 2029S Scott, L. J., 1230T Scott, R. A., 53 Scott, S. A., 737S Scott, W. K., 2309S Scott, W. R., 997S Sebat, J., 344 Secolin, R., 765T Sedaghat, A., 2462S Seddon, J., 779M Segre, A. V., 3376T Seiser, E. L., 667S Selvi Günel, N., 3421T Semrau, K. C., 3214T Sen, M., 2421M Sengupta, S., 203 Seo, A., 2948M
Seo, D., 735S Seo, J., 2681S Seppälä, E. H., 2061S Sertie, A., 3076S Sestito, S., 2743T Settler, C., 2793S Severin, E., 2575T Seyrantepe, V., 3073S Shaaban, S., 2708S Shabalin, A. A., 1409T Sha'bani, S., 3480M Shabsovich, D., 3341S Shafee, R., 1117S Shago, M., 3342M Shah, A. Z., 3032M Shah, K. P., 1197T Shahabi, P., 715S Shahin, H., 2888M Shahmirzadi, L., 2580M Shaikh, T. H., 3028S Shaked, A., 1715T Shameer, K., 2388S Shan, J., 3135S Shankaracharya, S., 3302S Shao, X., 462T Shapero, M., 1706T Sharaf Eldin, N., 1755S Shariati, G., 2463M Sharma, A., 882T Sharma, S., 3102T sharma, s., 3190T Sharmin, N., 2874T Sharp, K. J., 1883T Shaw, C., 1777M Shchetynsky, K., 1074T Sheehan, V., 357 Shen, L., 959M Shendure, J. A., Session 76 Shenoy, S. A., 653M Sherry, S., 1662S Shetty, S., 2300M Shevchenko, Y., 2511M Shi, M., 1783M Shibata, A., 3103S Shibata, K., 1801M Shigemizu, D., 1574T Shih, P., 1231S Shih, Y., 3377S Shim, s., 2591S Shimazaki, H., 1201S Shimbo, H., 2733M Shimizu, A., 2596T Shin, J., 1668S Shinde, D., 2438S Shirts, B. H., 301 Shively, K. M., 3055S Shore, S., 1674S Shringarpure, S., 8 Shu, L., 1067M Shukla, A., 2631M Shuldiner, A., 706M Shuman, C., 2542T Shutske, K. B., 2576S Sidore, C., 780T Sieberts, S. K., 1198S Sikora-Wohlfeld, W., 965M Silva, B., 1927S Silva, V. C., 415M Silveira-Moriyama, L.,
1560S Silver, A., 2803S Silverman, I., 251 Sim, X., 1010M Simaite, D., 232 Simmons, A. D., 2325S Simon, L., 641M Simons, C., 2990M Simonti, C., 1920M Simpson, C. L., 1225S Sin, YY., 2288M Singer, A., 2636S Singleton, M. V., 1554S Siniard, A. L., 2133S Sinicrope, P. S., 2599T Sinnott, J. A., 1098T Sisson, D., 2641T Siu, M. T., 418T Sklar, P., 345 Skotte, L., 1812S Slavney, A., 1989S Sleiman, P. M. A., 998M Sloan, C. A., 1653S Slowey, P. D., 1680S Small, K., 354 Smith, A., 1053T Smith, A. C. M., 2603S Smith, CJ., 949S Smith, C. L., 2878S Smith, D. J., 463M Smith, E., 1596S, 2160M Smith, J., 1987S, 2972M Smith, M., 1246S Smith, R., 1309S Smith, TM., 2315S Smith-Packard, B., 2337T Snow, A. K., 3387M Snyder, M., 282 Snyder, M. W., 2843S Soave, D., 1778T Sobota, R. S., 1811T Sobreira, N., 127 Sodhi, A., 873T Soemedi, R., 545M Sol-Church, K., 2923S Soler Artigas, M., 999T Solomon, B., 228 Solomon, I., 3303M Solyom, S., 135 Son, H. Y., 1000S Sone, J., 1257T Song, I., 960T, 3204T Soranzo, N., 1 Sorosina, M., 1115M Sorte, H. S., 3004S Sotomaior, V. S., 1953S Soto-Quintana, O., 3304T Souaiaia, T., 1410S Soubrier, F., 120 Sousa, I., 1001M Souza, L. T., 834T Souza, W., 1537M Spear, M. L., 931S Speed, D., 1118M Speliotes, E. K., 356 Sperber, S. M., 1211M Spielmann, M., 590M Spier, I., 299 Spinella, JF., 3378M Sprouse, C., 416T
SPEAKER/FIRST AUTHOR INDEX
Rozet, JM., 3070S Rualo, J., 1644S Ruark, E., 98 Rubel, M. A., 2387S Rubicz, R., 3468M Rudd, K., 304 Rudy, G., 1663M Rufus, A., 2264M Ruiz, F., 1800S Ruiz-Narvaez, E. A., 3301T Rump, A., 2445M Rupp, V. M., 3051T Rusmini, M., 1572S Russell, B., 2669S Russo, A., 461M Russo, G., 3375M Rustagi, N., 1684M Ruth, K. S., 785M Ruzic, L., 2381T Rychkova, A., 1405M Ryu, E., 1326T Ryu, H. M., 497M
253
254
SPEAKER AND FIRST AUTHOR INDEX
Srinivasan, M., 1691T Srivastava, A. K., 116 Srivastava, S., 1317T Srour, M., 3048T Staats, K. A., 1258S Staley, L. A., 1538T Stamoulis, G., 516T Standish, K. A., 1575S Stanfill, A. G., 874S Stanier, P., 3042T Stanley, C., 2464T Staples, J., 1411M Stark, Z., 2789S Staropoli, J. F., 2213S Stavropoulos, D. J., 2465S Stein, C. M., 1130M Stein, M., 464T Stenzel, S. L., 1848S Stergachis, A. B., 253 Stessman, H. A. F., 210 Stevens, A. J., 465M Stewart, D. R., 3265T Stewart, F. J., 1702M Stitziel, N., 186 Stoffels, M., 82 Stone, A. C., 843T Strande, N. T., 318 Stranecky, V., 2936M Stranger, B. E., Session 7 Stray-Pedersen, A., 3005M Strom, C. M., 67 Stromberg, M., 860M Strong, E., 466T Stueber, S., 2734T Sturcke, A., 1412T Stuurman, K. E., 2828S Su, A. I., 92 Su, M., 1948M Su, M. W., 1557S Suarez-Kurtz, G., 711S Suárez Villanueva, A. S., 1937S Subhash, A. K., 690M Subramaniam, M., 1364T Sudhakar, D. V. S., 229 Suh, J., 3011M Sul, J., 642T Sulakhe, D., 1413S Sulem, P., 95 Sullivan, T., 1654M Sulovari, A., 1460T Sumner, K. L., 2952T Sun, C., 1123S Sun, D., 467M Sun, G., 3145S Sun, N., 1078S Sun, Y., 148, 3136S Sun, YP., 2810S Sun, Z., 1414M Sung, H., 2146M Sung, MK., 897T Sunga, A., 3311S Sur, D., 729S Suskin, B., 2848S Susswein, L., 313 Sutton, V., 287 Suzuki, A., 886S, 3379T Suzumori, N., 2392S Sveinbjornsson, G., 178 Svidnicki, M. C. C. M., 2520M
Swaminathan, G. J., 171 Swan, B., 1239T Swanson, D., 1864M Sweet, K., 2413S Swenerton, R. K., 2503T Swisshelm, K., 3205T Syed, S., 2162M Sykes, M., 1675M Symer, D. E., Session 76 Symoens, S., 234 Szafranski, P., 2627S Szelinger, S., 2447S Szpiech, Z. A., 1979S
T Tabor, H., 2365T Tachmazidou, I., 781S Tackney, J., 2021S Taft, R. J., 2991T Tahir, R., 3153S Tajuddin, S. M., 2087S Takahashi, J. S., Session 72 Takahashi, M., 727S Takano, K., 3182T Talasaz, A., 3422S Talebizadeh, Z., 1286M Talkowski, M., 2844S Tammimies, K., 17 Tan, A., 1576M Tan, K., 1444M Tan, P. L., 571S Tan, Q., 420T Tanes, C. E., 1539S Tang, X., 2078M Tang, Z. Z., 1725S Tarn, C., 2417S Taschner, P. E., 1577T Taub, M. A., 1597M Tavakoli Koudehi, A., 3470S Tavares, P., 2535M Tavares, V. L. R., 3106S Tavtigian, S. V., Session 71 Tayeb, M., 1598T Taylor, J. M., 2048M Teerlink, C. C., 1002T Tekin, D., 2909M Tekin, I., 2674T Tekola-Ayele, F., 273 Temel, S., 2764T Temtamy, S. A., 2685M Tennant, M. R., 2326S Tepperberg, J. H., 3219T Terada, A., 1415T Terry, S., Session 74 Tesarova, M., 2215T Tesson, C., 1314T Tetreault, M., 1202M Teumer, A., 1003S Tewhey, R., 651T Tey, S., 2924M Thaker, V., 1100M Thakuria, J. V., 1496T Thangavelu, M., 3380S Theis, J. L., 2149S Theusch, E., 697S Thevenon, J., 2486S Thibodeau, S. N., 33 Thiel, C. T., 2925T
Thiffault, I., 2501S Thijssen, P. E., 2902S Thomas, G. A., 1681M Thomas, W., 1250M Thompson, B. A., 3505T Thompson, D., 2504S Thompson, J., 2466M Thomson, N., 1578S Thong, M., 2585S Tian, C., 1184M Tian, L., 1561M Tian, S. L., 1540M Tibben, A., Session 48 Tignor, N. L., 654T Tiira, K., 1185T Tilch, E., 2030M Tillmans, L., 668M Tim, R. C., 2845S Timpson, NJ., 764M Tincher, S., 480T Tindale, L. C., 805S Tirado, C. A., 3343T Tirado, I., 1361M Tischkowitz, M., 3503S Tobar Tosse, F., 1646T Togawa, T., 2953S Toland, A., 3280T Toloue, M., 2526M Tomsic, J., 3266S Torgerson, D. G., 861T Torkamani, A., 112 Toro, C., 3049S Torres, F. R., 2917S Torres, J., 1018S Torun, D., 2602T Tovilla-Zárate, C. A., 1155T Towers, A. J., 375 Towne, M. C., 2973T Tragante do O., V., 2067S Trakadis, Y., 2257T Traurig, M., 1019M Tregouet, DA., 2041S Trinh, J., 3085S Trynka, G., 1075S Tsai, A., 2632T Tsai, H., 1051S Tsai, P.-C., 468T Tsang, E. K., 657T Tsepilov, Y. A., 1865T Tšernikova, N., 487M Tsoi, L. C., 1416S Tsosie, K. S., 807T Tsurusaki, Y., 2926S Tucker, M., 2856S Tuff, J. F., 865S Tuke, M. A., 758M Tukiainen, T., 242 Turchin, M. C., 800M Turcot, V., 274 Türkgenç, B., 3381M Turner, T., 613S Turpault, S., 2284M Tuysuz, B., 2686T Tyburczy, M. E., 236
U Uddin, M., 15 Uehara, D. T., 2675S
Uehara, T., 3267M Ueta, M., 400 Ukraintseva, S., 891T Ullah, E., 2889T Ulm, J. W., 2193S Umbarger, M., 2823S Umrigar, A., 2205S Unal Gulsuner, H., 70 Upendram, P., 3471M Urbanek, M., Session 7 Uricchio, L. H., 201 Urraca, N., 2652M Usher, C. L., 586S Uyenoyama, M., 1942M Uzilov, A. V., 1676T
V Vaez, A., 1541T Vahidnezhad, H., 3121S Vainzof, M., 2871T Valdez Haro, A., 2049S Valind, A., 614M Valkanas, E., 1417M Vallabh, S., Session 6 Valle, D., Session 24 Vanakker, O., 1434S van Bokhoven, H., 111 Vance, D. D., 561T Vance, J. M., 2151S van de Bunt, M., 59 Van den Oord, E. J. C. G., 244 Vander Horn, P. B., 1625T van der Hout, A. H., 2919T van der Laan, S. W., 2161S Van Driest, S. L., 2139S Van Duijn, C. M., 185 van Gassen, K. L. I., 2434T van Haaften, G., 2184M van Leeuwen, E. M., 1839S van Min, M. J., 328 van Minkelen, R., 2436M Van Nieuwerburgh, F., 1418T Van Opstal, D., 2846S van Setten, J., 915T van Tienen, F., 2211S van Zuydam, N. R., 2101S Varga, T. V., 2105S Vasconcellos, J. P. C., 1023T Vasli, N., 794M Vasquez, L. J., 570T Vassy, J. L., 2433M Vasudeva, N., 2088M Vattathil, S., 591T Vattikuti, S., 1461S Vaysse, A., 3318M Vázquez-Villamar, M., 1013M Vecchio-Pagán, B., 2963M Veeramah, K.R., Session 9 Veerapen, M. K., 2853S Veith, R., 3086M Velagaleti, G., 3196T Velinov, M., 2204M Veliz-Otani, D., 1357S
SPEAKER AND FIRST AUTHOR INDEX
W Wadelius, C., 484T Wadelius, M., 712M Wadsworth, M. E., 1542S Wagner, E., 539M Wagnon, J. L., 3052S Wahl, S., 469M Wahlberg, P., 245 Wain, L. V., 1101T Walia, J., 3487T Walker, S., 615T Walkiewicz, M. A., 2539T Wallace, S., 2366M Wallis, D., 1318S Wallmeier, J., 3131S Walsh, T., 3382T Walter, K., 2031S Walter, M., 2930M Walters, R. G., 1707S Walters-Sen, L. C., 3173T Walz, K., 233 Wan, Y. B. A., 2134M Wang, C., 1613T, 1823T Wang, D. W., 2179S Wang, E., 2792S Wang, F., 2947S Wang, G. T., 1833S Wang, H., 1033S, 1988M, 2111S, 2216M Wang, J., 61, 1792M, 2135S, 2253T Wang, L., 643S, 1048S, 2399S Wang, L. Y., 1462M Wang, M., 25, 1475T
Wang, N., 1763T, 2975M Wang, P., 1420M, 1647S Wang, Q., 3306M Wang, R., 679S Wang, R. T., 2528S Wang, S., 519T, 1350T Wang, T., 2310S Wang, W., 1692S Wang, X., 1186S, 1591M Wang, X., 1419S, 1733T, 2073S, 3479S Wang, Y., 107, 1543M, 2642S Wang, Y. E., 1709T Wang, Y. J., 2072M Wang, Z., 157, 382, 1655T Wangler, M. F., 48 Ward, L. D., Session 75 Waring, D., 2318S Warren, J., 1648M Wasserstein, M. P., 2187S Watanabe, A., 2448M Watanabe, Y., 2258M Waterworth, D., 700M Watkins, L., 1614S Watkins, N. A., 3212T Watson, C. T., 240 Watson, L. C., 3408M Weaver, D., 1579M Webber, D., 2153S Weber, Z. M., 3331T Weeks, D. E., 1497S Wei, C., 1727T Wei, G., 3409T Wei, P., 1862T Wei, Q., 1233T Wei, Z., 1271M Weihbrecht, K., 921T Weinberg, C. R., 1830S Weisfeld-Adams, J. D., 2709M Weisheit, C., 3058S Weiss, L. A., 395 Weiss, M., 2439M Weitzman, E., 2367T Welch, R. P., 1421T Weltmer, E. C., 3429M Wen, X., 644M Weng, C., 2477S Wennerström, A., 876T Wert, K., 930T Wertelecki, W., 2858S Wesolowska-Andersen, A., 559S Wheeler, H. E., 404 Wheeler, M. T., 2136M Whelan, C. D., 1168S White, J., 1580T White, J. J., 2716T White, P., 1422S White, S. J., 513T Whitehead, P., 1241M Whitworth, J., 3268T Wilbe, M., 2663S Wildenauer, D. B., 1140T Wilfert, A. B., 1764S Wilkie, A. O. M., 1243S Willems, S. M., 810T Willems, T., 935M Willems van Dijk, K., 1470S
Willer, C., 2114M Willer, J. R., 3149S Williams, A. L., 7 Williams, J. L., 217 Williams, M. S., 2559M Williamson, V., 1294S Wills, A. G., 1049M Willsey, A. J., 1199M Wilson, B. J., 2273T Wilson, J. F., 1107T Wilson, L., 2062M Wilson, N., 3152S Wilson Sayres, M. A., Session 9 Winkelmann, J., Session 72 Winqvist, R., 3397T Wise, C., 353 Wisnieski, F., 482T Wiszniewski, W., 83 Witherspoon, D. J., 1507M Witte, J. S., 31 Woerner, A. E., 637S Wojcik, G. L., 1968M Wolf, L., 2620T Wolf, Z., 77 Wolpert, C. M., 2383T Won, H.-H., 2102M Wong, E., 2016M Wong, E. M., 422T Wong, K. L., 3038M Wong, L., 367 Wong, T. H., 1259M Wong, W. S. W., 10 Wong-Ley, L., 2698T Woo, K., 2206M Wood, A. R., 259 Wray, C., 2316S Writzl, K., 2736M Wu, C. C., 1866S Wu, F. Y., 848M Wu, L., 1877T Wu, M., 3383S Wu, N., 3113M Wu, W., 1059T Wu, W., 1055M Wu, X., 1697T Wu, Y., 649S, 3389S Wu, Z., 3384M Wünnemann, F., 2754M Wyckoff, G. J., 1154M Wyrobek, A. J., 1324S
X Xia, F., 2482T Xia, G., 2194M Xiao, C., 1581S Xie, H., 2497T Xing, J., 746M Xiong, F., 2897M Xiong, M., 1423M Xu, C. J., 470T Xu, H., 1888M Xu, JW., 1322M Xu, M., 1424T Xu, S., 1912M, 2188M Xu, X., 2998S Xu, Z., 471M, 1741M Xue, Y., 1992M
Y Yabuta, S., 2561S Yadav, A., 3472T Yaghootkar, H., 1095T Yamagata, K., 1582M Yamagata, Z., 2340M Yamaguchi, M., 1544T Yamaguchi-Kabata, Y., 627T Yamamoto, G. L., 129 Yamazaki, K., 955S Yamazawa, K., 423M Yan, D., 2910T Yan, Q., 23 Yan, X., 932M Yancy, L. A., 1649T Yang, H., 572M Yang, H., 1467S Yang, L., 3345M Yang, R., 579T Yang, R. X., 3269S Yang, S., 1751T Yang, W., 2521T Yang, Y., 472T, 2478M Yano, S., 2277T Yao, B., 407M Yao, C., 1081S Yap, K., 2443T Yarram-Smith, L. J., 2429S Yasui, D. H., 409M Yasunami, M., 3001S Yau, C., 1425S Yau, M. S., 1094M Ye, C. J., 640S Ye, J., 2401S Ye, K., 279 Yeager, M., 3167T Yeh, E., 3091S Yenamandra, A., 3344S Yerges-Armstrong, L., 1879M Yeung, K. R., 473M Yigit, E., 1699M Yilmaz, R., 3071M Yilmaz, S., 2755T Yim, S., 616S Yin, J., 1315S Yokoi, T., 2667M Yoo, H., 2189S Yoo, Y., 1791S Yoshihashi, H., 2643M Yoshiuchi, I., 1980M You, J., 131 Young, E. L., 3507M Young, J., 1280M Yourshaw, M., 3040S Yousefi, P., 474T Youssefian, L., 2737T Yrigollen, C., 544S Yu, B., 101 Yu, F., 1922M Yu, G., 3307T Yu, J., 2370M Yu, L., 80 Yu, N., 3392S Yu, S., 3057T Yu, X., 475M Yu, Z., 1855M Yuan, B., 2962S
SPEAKER/FIRST AUTHOR INDEX
Vengoechea Barrios, J., 2550M Vera, M., 2261T Verdugo, R. A., 1895S Verhoeven, V. J. M., 1004M Verloes, A., 128 Verma, A., 903T Verma, G., 2747S Verma, S., 1878S Vernot, B., 2015S Vial, C., 3305S Vieira, N. M., Session 5 Vigeland, M., 1469T Vignoli, M., 3006T Vihinen, M., 1452S Vikkula, M., 2068M Vilboux, T., 2935S Vilhjalmsson, B. J., 1767S villegas, r., 1035T Vince, N., 815M Vincent, A., 2927M Vincent, J. B., 1336S Vinkler, C., 2633S Vinson, A., 1047T Viñuela, A., 281 Vitale, E., 1293T Vitazka, P., 2442M Vlachopoulou, E., 2050M Vladimirova, A., 1650S Voss-Hoynes, H. A., 809M Vsevolozhskaya, O., 1726M Vu, K., 2163S
255
256
SPEAKER AND FIRST AUTHOR INDEX
Yuan, T., 1435M Yuan, Y., 557M Yuceturk, B., 2745M Yuen, R. K. C., 631S
Z Zaghlool, A., 1212T Zaitlen, N., 522T Zaki, M. S., 2223T Zaleski, D. H., 3161T Zalloua, P., 1913S Zamani Esteki, M., 327 Zambrano, R. M., 2588S Zampetaki, A., Session 69 Zandona, M. R., 835S Zankl, A., 1659S Zapata-Aldana, E., 2717S Zappala, Z., 665M Zaragoza, M., 2137S
Zariwala, M. A., 2898T Zarrei, M., 206 Zaveri, H. P., 3140S Zaykin, D., 1871T Zazo Seco, C., 235 Zech, M., 1251T Zeggini, E., Session 73, 782M Zemanova, Z., 3400T Zembrzuski, V. M., 736M Zemojtel, T., 2582S Zeng, C., 476T Zeng, R., 1664T Zeng, Z., 1827S Zhan, H., 1804M Zhan, Y., 2507S Zhang, C., 381 Zhang, D., 1820T Zhang, G., 2859S Zhang, H., 421M, 1925S, 2103S
Zhang, J., 1426M, 2437T, 2558S Zhang, J. G., 1061M Zhang, L., 1766T, 2081S Zhang, M., 2788S Zhang, S., 2537S Zhang, T., 1545S Zhang, Y., 477M, 854M, 3227S, 3483M Zhang, Z., Session 76, 1450M Zhao, J. H., 1765M Zhao, L., 1427T Zhao, N., 1817T Zhao, Q., 2093S, 2928T Zhao, Y., 1187M Zheng, J., 1742T Zheng, Y., 337, 1428S Zhong, N., 2850S Zhou, G., 3151S Zhou, H., 741S
Zhou, J., 1805T Zhou, L., 1779S Zhou, W., 1445T, 2094M, 3332S Zhou, X., 161, 1658T Zhu, X., 331 Zhuang, W., 3308S Ziegler, A., 1244M Ziegler, S. G., 142 Zielinski, D., 899M Zill, O., 3385T Zimmermann, B. G., 2505M Zink, A. M., 2901T Ziv, E., 1867M Zook, J. M., 1656S Zou, W., 1785S Zou, Y., 2271T Zubair, N., 951T Zuhlke, K. A., 3309M Zwiefelhofer, T., 2847S
Come see all that ACMG, NBSTRN and NCC have to offer at booths 1724 and 1725. • FIND out what’s changed in genetic services CPT coding • PICK UP a copy of Genetics in Medicine • APPLY for ACMG membership during the ASHG meeting and SAVE $125 on ACMG membership and annual meeting registration. • ENTER drawings for a Kindle Fire and a 2015 ACMG Annual Meeting Registration! • LEARN about the ongoing fundraising activities of the ACMG Foundation for Genetic and Genomic Medicine • DISCOVER ACMG’s online resources including our FREE Genomics in Clinical Practice Webinar series and the session recordings from the 2013 and 2014 ACMG Annual Clinical Genteics Meetings. • VIEW a preview and learn more about the 2013 ACMG Genetics and Genomics Review Course Archived Webinar available for purchase (approved for CME and CEUs). The Newborn Screening Translational Research Network (NBSTRN) and the National Coordinating Center for the Regional Genetic Service Collaboratives (NCC) will be showcasing various resources available for researchers, healthcare providers, public health professionals and consumers at booth 1725.
• Detailed program, registration, and hotel information mation available October 2014 at www.acmgmeeting.net • Abstract submission opens in October 2014 • Abstract submission deadline: Friday, December 5, 2014
2015 Genetics and Genomics Review iew w Course June 18–21, 2015 Center for Advanced Medical Learning and Simulation (CAMLS) • Tampa, FL
Publishing High Quality Human Genetics Research since 1949
Pick up your limited edition lanyard at ASHG Central, Booth 1331 Look for the 65th Anniversary edition of AJHG in your meeting bag
Cell Symposia 2014 -2015 Forthcoming Symposia Organized by the editors of Cell Press's leading journals, Cell Symposia bring together exceptional speakers and scientists to discuss topics at the forefront of scientific research.
Human Genomics November 8-10, 2015, Singapore Hallmarks of Cancer: Asia November 9–11, 2014 Beijing, China
Translational Neuroscience: Bridging the Gap Between Basic Research Discoveries and Clinical Applications November 13–14, 2014 Arlington, VA, USA
Cell-VIB: The Multifaceted Roles of Type 2 Immunity December 10–12, 2014 Bruges, Belgium
Stem Cell Energetics December 9–11, 2014 Berkeley, CA, USA
Exercise Metabolism June 7–9, 2015 Amsterdam, The Netherlands
Cancer and Inflammation June 14–17, 2015 Sitges, Spain
Mitochondria July 19–21, 2015 Chicago, IL, USA
Stem Cells Epigenetics September 20–22, 2015 Sitges, Spain
Human Microbiome September 27–29, 2015 Montreal, Canada
Cell Death and Immunity October 11–13, 2015 Berkeley, CA, USA
Engineering the Brain (SfN Satellite) 14–15 October, 2015 Chicago, IL, USA
Human Genomics November 8–10, 2015 Singapore
cell.com/symposia
Scottish Exhibition and Conference Centre
ESHG Glasgow
2015
Scotland, United Kingdom, June 6-9
Deadline for submission of abstracts: February 13, 2015 Programme, registration and abstract submission online at:
www.eshg.org/eshg2015
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Invited Proposals and Workshops Accepted Until December 5, 2014 Seeking invited sessions proposals in: ] Emerging Genomic and Bioinformatic Methods and Tools ] Functional or Mechanistic Studies of Genetic Disease ] Comparative Genomics (Population or Species) ] Advances in Mendelian or Complex Trait Analysis ] WES or WGS in Clinical or Research Settings ] Evolutionary Genetics and Genomics ] Engagement of Stakeholders in Clinical Genetics/Genomics ] Social Issues, Education, Policy ] and more! June 11, 2015
Abstract Submission Deadline TRAINEES At least one slot has been set aside for an invited session that is proposed, moderated and presented by trainees! When submitting a proposal, please mark the appropriate checkbox to indicate your status as a trainee.
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