TECHNOLOGY AND INNOVATION
RESEARCH
CLINICAL
TRAINEES EDUCATION
SOCIAL ISSUES
ashg.org/2015meeting
#ASHG15
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Welcome to the ASHG 65th Annual Meeting
This activity has been planned and implemented in accordance with the accreditation requirements and policies of the Accreditation Council for Continuing Medical Education (ACCME) through the joint providership of the American College of Medical Genetics and Genomics and The American Society of Human Genetics. The American College of Medical Genetics and Genomics is accredited by the ACCME to provide continuing medical education for physicians.
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TABLE OF CONTENTS ASHG’s Mission/Vision/2015 Board of Directors................................................... 4 Welcome from the 2015 President............................................................................ 5 2015 ASHG Program Committee............................................................................... 7 Welcome from the 2015 Program Chair................................................................... 8 2015 ASHG Abstract Reviewers.............................................................................. 10 Annual Meeting Support.......................................................................................... 12 SCHEDULES.........................................................................................................13-31 Scientific Sessions and Ancillary/Exhibitor Education Events MAPS Baltimore Convention Center.................................................................................. 33 Hilton Baltimore (Headquarter Hotel)...................................................................... 35 Hotel Locator Map................................................................................................... 37 GENERAL INFORMATION........................................................................................ 39 About the Meeting/Session Types/Policies...................................................... 39 Registration/Badge and Program Pickup.......................................................... 42 Meeting Offices and Key Locations.................................................................... 43 PROFESSIONAL DEVELOPMENT THEATER, TRAINEE LOUNGE AND CAREER RESOURCES............................................................................................. 45 CHARLES J. EPSTEIN TRAINEE AWARDS FOR EXCELLENCE IN HUMAN GENETICS RESEARCH: FINALISTS AND SEMIFINALISTS................... 46 About the Awards/18 Finalists................................................................................. 46 Semi-Finalists.......................................................................................................... 48 FASEB MARC TRAVEL AWARDEES........................................................................ 49 INVITED, PLENARY, AWARD, AND PLATFORM SESSIONS SCHEDULE..... 51-101 Sessions #1 through #83......................................................................................... 51 POSTER SESSIONS......................................................................................... 103-191 Poster Mounting/Removal Hours/Author Presentation Times............................... 103 Poster Walks Schedule.......................................................................................... 104 Poster Sessions by Topic...................................................................................... 105
TABLE OF CONTENTS 3
EXHIBITORS Floor Plan of Exhibit and Poster Area.................................................................... 195 Exhibit Hall Features and Hours............................................................................ 197 Why Are Exhibitors Important? ............................................................................. 197 Alpha Listing of Exhibitors/Company Descriptions............................................... 198 Continuing Education (CEU/CME/PACE CEU Credits)...................................... 227 Speaker and Author Disclosures/Conflict-of-Interest....................................... 231 Speaker Instructions and Presentation Guidelines............................................ 236 Invited Speaker and First Author Index................................................................ 239 ADVERTISERS......................................................................................................... 253
During the meeting, you are encouraged to post thoughts on exciting scientific or clinical advances, on challenges the field will face, and on other meeting events using the hashtag #ASHG15 on social media. Twitter: #ASHG15, http://twitter.com/geneticssociety Facebook: https://www.facebook.com/GeneticsSociety Instagram: #ASHG15, http://www.instagram.com/GeneticsSociety Follow @GeneticsSociety on Twitter to get the latest updates, tips, news, and announcements.
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 embrace 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.
2015 Board of Directors Neil J. Risch, President Harry C. Dietz, President-Elect Cynthia C. Morton, Past President 2014 Brendan Lee, Secretary Geoffrey M. Duyk, Treasurer David L. Nelson, Editor, AJHG Gorka Alkorta-Aranburu, Director Han G. Brunner, Director Sally A. Camper, Director William A. Gahl, Director Joel N. Hirschhorn, Director Helen H. Hobbs, Director Gail P. Jarvik, Director Elaine A. Ostrander, Director Stephen W. Scherer, Director Gert-Jan B. van Ommen, Director
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WELCOME FROM THE PRESIDENT Dear Colleagues, A hearty welcome to ASHG 2015 in Baltimore. Historically, Baltimore has been a very popular locale for ASHG meetings – tying with San Francisco and San Diego for the most visits (at 5). Even though we are an American society, our reach is global, as many of our attendees venture here from foreign shores. It is in recognition that the ASHG Annual Meeting, the largest such gathering in the world, is THE place to be, to learn about the most up to date research in all facets of human genetics. Participants learn about the latest advances in genomic technologies, computational and statistical methods, clinical approaches to using new technologies, the latest findings related to the genetics of many disorders, ranging from cancer to cardiovascular to metabolic to neuropsychiatric; it is also the place to meet up with new friends and old, and to discover new collaborators and new positions, especially for our trainees. And this occurs not just at our meeting, but also at all the ancillary meetings and events that occur in the days prior to our meeting. It is typical for ASHG presidents to mention anniversaries and reflect on history, and this year I will be no different. It is the 150th anniversary of Mendel’s seminal insights into inheritance, and the 15th anniversary of the rough draft of the human genome. Both events were transformational. Although Mendel’s experiments demonstrated the particulate nature of inheritance for certain traits, it was clear even at the time that such patterns did not underlie a broad variety of other traits, whether in plants or humans. The contrary biometrical school thought of inheritance as continuous rather than particulate. Fisher resolved the apparent contradiction by proposing that, at a fundamental level, inheritance is particulate, but if many such “particles” or genes are involved, the trait distribution and its inheritance would look continuous. The notion of “heritability” was defined as the portion of the variability in a trait that is determined by genetic factors. Perhaps ironically, even after a century of discovery and revolutions in molecular genetic technology, computing and statistical methods, this debate, in many respects, continues. Advocates of the Mendelian tradition of low frequency, high penetrance variants see them as either making a primary contribution or at least a more interpretable one, especially in terms of causation. On the other hand, trainees from the biometrical tradition see the numerous common and low penetrance variants as the primary source of inheritance. As is often the case in arguments, the answer is really not an “either or” but “both.” The advent of reduced cost sequencing that can assay low frequency variants (in conjunction with imputation from genotyping arrays) and the development of large, clinically rich cohorts will help resolve the full genetic architecture of many common and rare diseases and traits. This will be the topic of this year’s presidential symposium. Heritability also, after a century, remains controversial in its construction and interpretation. But the focus of late has turned to why modern, well powered genomic studies have only characterized a fraction of what has been presumed to be the heritability derived from family based estimates. In fact, this will be the topic of the joint session of ASHG with the International Genetic Epidemiology Society on Tuesday, October 6. For the theme of this year’s meeting, I have chosen “All in the Family” – for two reasons. First, because of the seminal and changing role that family has played historically both in society and in human genetics; and second, because the classic sitcom of that name also reminds
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us how challenging but important it is to adapt to new social (and in our case technological) developments. It was not so long ago that marriages were arranged and endogamous, maintaining a social genetic structure across generations. This may still be the norm in some parts of the world, but not in the U.S. Intermarriage is becoming more prevalent and impacting the genetic structure of our population and its members. “Non-traditional” families of same sex partners are becoming more common in genetics clinics, as is the use of donor parents, with periodic genetic implications. At the same time, families are ever more frequently confronted with decisions related to new technologies such as whole genome sequencing, non-invasive prenatal testing, and genome editing. We need to both understand and explain the power of our advancing technologies and be good and ethical stewards of it. Yet in our research, the family has diminished as the unit of analysis, primarily as a consequence of advances in technology. Genetics has yielded to genomics. Even modern studies of heritability are based on very distant or “unrelated” individuals, and gene discovery is typically based on individuals, not families. In classical genetics, segregation of a discovered variant with disease in families was taken as evidence of phenotypic causality. In 2015, it is the opposite – it is the lack of transmission of genetic variants in nuclear families (i.e., de novo events) that is taken as evidence of genomic causation. While we continue to innovate the Annual Meeting, with numerous trainee sessions, meet and greet gatherings, poster walks, and tweet ups, we also recognize our past, through our awards. This year the education award will be presented for the first time as the Arno Motulsky-Barton Childs Award for Excellence in Human Genetics Education, in recognition of two of our society’s pioneers, who so strongly impacted human genetics education for over five decades. We also for the first time present an award for advocacy – which is a core value of our mission. As many others before me have noted, technological developments have caused our society to grow dramatically over the past decades. This has also had significant implications for our meeting venues. In the early days, the locations were highly varied and included many smaller cities such as Ann Arbor, Michigan and Ithaca, New York. Because our meeting attendance now exceeds 8,000, we are restricted to only the largest of cities and venues. What this means, more specifically, is that this is likely the last time we will be meeting in Baltimore – a city with a significant history, not only for the U.S. but also for medical education, human genetics and our Annual Meeting. We have simply outgrown it. So while you enjoy the remarkable science this week and all that Baltimore has to offer, recall that it is a final and bittersweet reunion with this historic and diverse city, home of Edgar Allan Poe, Henrietta Lacks, Babe Ruth, John Waters, and Frederick Douglass. Being your president this year has been an exciting and wonderful adventure, allowing me the privilege to work with a Board of Directors second to none, and same for the ASHG staff, whose commitment is what brings excellence to all of our programming, educational outreach, and advocacy efforts. Kudos also to Chris Gunter, our Program Committee Chair this year, and her committee for their selfless dedication to crafting an exceptional meeting again this year. As I am sure is true for many of you, it will be quite the challenge for me to select one each time from all the superlative parallel sessions. I look forward to welcoming you all here! With warmest regards, Neil Risch 2015 President
PROGRAM COMMITTEE 7
AMERICAN SOCIETY oF HUMAN GENETICS 65TH Annual Meeting October 6-10, 2015 • Baltimore, Maryland ASHG gratefully acknowledges the expertise, hard work, and dedication of the 2015 Program Committee ************************************ 2015 Program Committee Chris Gunter, 2015 Chair Anthony Antonellis, Chair-Elect Joshua M. Akey
Ruth Loos
Dimitri Avramopoulos
Daniel G. MacArthur
Joann N. Bodurtha
Mark McCarthy
Stephen J. Chanock
Douglas Mortlock
Gregory M. Enns
Kelly E. Ormond
Christian Gilissen
Tayfun H. Ozcelik
Terry J. Hassold
Sharon E. Plon
Madhuri R. Hegde
Chris P. Ponting
Anne W. Higgins
Michael A. Province
Ophir D. Klein
Peter C. Scacheri
Suzanne M. Leal
Hua Tang
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 65th Annual Meeting in Baltimore! This is truly an exciting time to be in human genetics. The 2015 Program Committee has developed an exceptional program. This year, we received 3258 abstracts! From these, 390 were chosen for plenary/platform oral presentations and more than 2800 are being presented as scientific posters. In addition, there are 20 invited sessions chosen from submitted proposals. Thanks to your submissions, the Program Committee has assembled an exciting and fulfilling scientific program that balances basic, translational, and clinical research with sessions that address timely issues. The schedule highlights separate tracks (trainee, clinical, social issues, and education) to help you select the sessions most relevant to your interests. The meeting begins on Tuesday at 4:30 pm with the Presidential Address All in the Family – or “Gee our old LaSalle ran great” by Neil Risch. The address will be immediately followed by the Presidential Symposium entitled “Genetic Epidemiology at Scale: High Throughput Genomics Linked to Large Scale EHR Systems.” Each morning starts with all of us together. On Wednesday morning, the Program Committee is continuing the tradition of “Building Bridges” symposia with the European Society of Human Genetics, and this year we’ll address barriers and drivers for the implementation of clinical sequencing. We will then have the first two plenary abstracts, with the remaining four on Saturday morning. 2015’s Distinguished Speakers’ Symposium on Thursday morning will feature excellent talks on “The Art and Science of Science Communication.” ASHG’s prestigious award presentations will kick-off the program on Friday morning and will include the very first award for Advocacy which will be given to Rodney Howell. The Program Committee has also partnered with the International Genetic Epidemiology Society (IGES) to offer a joint satellite symposium entitled “Prospecting for Hidden Heritability: Undiscovered Nuggets or Fool’s Gold?” In addition, we are introducing a few new initiatives this year, including the reviewers’ choice abstracts (look for the posters with a special ribbon), themed receptions, and a full day of programming on Saturday. Last year we thoroughly revised the abstract topics and subtopics for your submissions, and we continue to refine them as fields change. This year we implemented blinded review, where the authors and institutions were hidden during the review process. We monitored the effect on scores obtained by trainee status of first author, nationality, and gender ratio, and saw no significant difference in any of those variables. Thank you again to the 55 reviewers and 27 Program Committee members for their assistance with these experiments! The Society remains committed to encouraging diverse representation of presenters in both invited and submitted scientific sessions.
WELCOME FROM THE PROGRAM CHAIR
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The meeting staff and Program Committee have also increased our commitment to communication of the best science. Our meeting app is new and improved thanks to your suggestions. We’ve changed the photo policy in our poster sessions: pictures may be taken of posters unless the authors indicate otherwise. Instructions on how to opt out can be found in the poster hall and on the meeting website. Please remember that we still cannot allow photos in the slides or plenary sessions, due to the disruptive effects of such equipment. Feel free to tweet or blog away using #ASHG15, although again we ask for respect of the presenter’s request if they ask you not to. If you’re using Twitter, you are welcome to the annual tweetup on Tuesday night, to meet other #ASHG15 attendees. It’s grown from 10 of us to over 150, so come early! Each day is filled with education, learning, and networking opportunities through our concurrent platform presentations, invited sessions, poster presentations, exhibits, and workshops. 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 2015 Program offers many events designed to assist our trainee members in their transition toward professional independence. Have suggestions for next year? Let us know through Facebook or Twitter, or email at
[email protected]. I hope that you enjoy the meeting, and again, a warm welcome to Charm City. Chris Gunter 2015 Program Committee Chair Marcus Autism Center and Emory University 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.
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ABSTRACT REVIEWERS ASHG gratefully acknowledges the expertise, hard work and dedication of the 2015 Abstract Reviewers Bioinformatics and Genomic Technology *Chris P. Ponting *Daniel MacArthur *Christian Gilissen Kees Albers Melissa Gymrek Aaron R. Quinlan
Complex Traits and Polygenic Disorders *Mark McCarthy *Hua Tang *Ruth Loos Josée Dupuis Alex Reiner Xiafeng Zhu
Cancer Genetics *Sharon Plon *Stephen J. Chanock Melinda Aldrich Angela Brooks-Wilson Ephrat Levy-Lahad Dayna Oschwald
Cytogenetics *Anne W. Higgins Athena M. Cherry Natalia Leach
Cardiovascular Genetics *Guillaume Lettre Hooman Allayee Gregor Andelfinger Clinical Genetics and Dysmorphology *Ophir Klein *Terry Hassold Dorothy K. Grange Michael J. Gambello Helga V. Toriello Nathaniel H. Robin Clinical Genetic Testing *Madhuri Hegde Birgit Funke Avni Santani
Development *Douglas Mortlock Wendy Chung Michael Talkowski Epigenetics *Peter Scacheri Reid S. Alisch Terry Furey Ethical, Legal, Social, and Policy Issues in Genetics *Kelly Ormond Debra J.H. Matthews Joon-Ho Yu Evolutionary and Population Genetics *Joshua M. Akey Timothy D. O’Connor Amy L. Williams
Genetic Counseling *Kelly Ormond Leila Jamal June Peters Genetics/Genomics Education *Joann Bodurtha Karen Weissbecker Arti Pandya Genome Structure, Variation, and Function *Anne W. Higgins *Doug Mortlock Katie Rudd Santhosh Girirajan Wendy Chung Michael Talkowski Health Services Research *Joann Bodurtha Katrina Goddard Arti Pandya Metabolic Disorders *Gregory M. Enns Seymour Packman Erin Strovel Molecular Basis of Mendelian Disorders *Anthony Antonellis *Tayfun Ozcelik Jacob Kitzman Marina Kennerson Alexander Hoischen Ozge Ceyhan-Birsoy
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Pharmacogenetics *Gregory M. Enns Robert Nussbaum Amber Beitelshees Prenatal, Perinatal and Reproductive Genetics *Terry Hassold Aleksandar Rajkovic Steven A. Brown
Psychiatric Genetics, Neurogenetics, and Neurodegeneration *Dimitri Avramopoulos *Michael E. Zwick Jennifer Mulle Tao Wang Alicia K. Smith Jim S. Sutcliffe
Statistical Genetics and Genetic Epidemiology *Suzanne M. Leal *Michael A. Province John Witte Yun Ju Sung Andrew Dewan Kristel Van Steen Therapy for Genetic Disorders *Ophir Klein Kenneth M. Huttner Joseph Shieh
*Indicates 2015 Program Committee Member
Thank you to the following members for serving as additional reviewers: *Chris Gunter, 2015 Program Chair Lucia Barker, ASHG Scientific Program Manager
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ANNUAL MEETING SUPPORT The American Society of Human Genetics gratefully acknowledges the following Annual Meeting sponsors
Bio-Rad For Refreshments, Wednesday Evening Poster Session Center for Pediatric Genomic Medicine at Children’s Mercy Kansas City For the Mobile App Children’s Hospital Los Angeles For the Diagnostic Challenges session on Thursday Genomics PLC For the Cyber Café and Convention Center Wi-Fi Integrated DNA Technologies For the #ASHG15 Tweetup on Tuesday University of Toronto McLaughlin Centre For the Trainee-Mentor Luncheon on Wednesday
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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 a specific 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 students, postdocs, fellows, residents). Indicates Education-focused events The Education Track highlights sessions, events, and workshops in two categories: research and best practices in genetics education at all levels, and 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 Events The Exhibitor Events Track highlights educational programming by companies exhibiting at ASHG 2015. Topics range from presentation of new research to case studies and best practices. Indicates sessions that receive credits for CME and CEUs Please refer to page 227 for additional CME and CEU information.
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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TUESDAY, October 6 *7:00 am5:00 pm
Understand Your Genome (separate advance registration required)
Hilton Hotel Peale
*7:30 am4:00 pm
American College of Medical Genetics and Genomics Board Meeting
Hilton Hotel Ruth
7:45 am3:15 pm
The 7th Annual Personalized and Precision Medicine Conference (separate advance registration required)
Sheraton Hotel Loch Raven Room
*8:00 am3:00 pm
ASHG Undergraduate Faculty Genetics Education Workshop
Convention Center Room 347
8:00 am3:30 pm
Discovery Research In Founder Population Traits Symposium
University of Maryland Baltimore Campus
*8:00 am4:30 pm
ABMGG Board of Directors Meeting
Hilton Hotel Latrobe
*8:15 am2:40 pm
ASHG High School Workshop (for local Baltimore students and teachers)
Convention Center Room 339
*8:30 am3:00 pm
ASHG Board of Directors Meeting #2
Convention Center Room 332
*8:30 am1:30 pm
ESHG Executive Board Meeting
Convention Center Room 333
*8:30 am4:00 pm
HGVS: Pathogenicity Interpretation in the Age of Precision Medicine (separate advance registration required)
Holiday Inn Hotel Chesapeake Room
9:00 am6:00 pm
Scientific Registration Open
Convention Center Pratt Street Lobby
*9:00 am12:00 pm
ASHG Program Committee Meeting #1
Convention Center Room 331
*9:00 am1:00 pm
Philippine Genome Center Health Program Scientific Advisory Committee Meeting
Convention Center Room 334
*9:00 am3:45 pm
Establishing a Framework to Facilitate Phenotypic Delineation and Gene Identification in Dubowitz Syndrome
Hilton Hotel Hopkins
*9:00 am4:00 pm
Matchmaker Exchange Meeting
Hilton Hotel Paca
*9:00 am4:00 pm
Society for Craniofacial Genetics and Developmental Biology 38th Annual Meeting Day 2 (separate advance registration required)
Johns Hopkins University Auditorium, Room 2119A
11:00 am6:00 pm
Speaker Presentation/Upload Room Open Convention Center Room 330
SCHEDULE 15
ASHG Social Issues Committee Meeting
Convention Center Room 304
12:00 pm1:30 pm
Genomic Medicine in Practice
Convention Center Room 324
12:00 pm4:00 pm
DNA Repair and Genome Instability Open Workshop
Hilton Hotel Key Ballroom 6
*1:00 pm4:00 pm
ASHG/IGES Joint Symposium: Prospecting for Hidden Heritability: Undiscovered Nuggets or Fool’s Gold? Separate advance ticket purchase required to attend.
Convention Center Room 309
1:00 pm2:00 pm
Human Subjects 101: From the NIH Application through Peer Review and Award
Convention Center Room 336
1:00 pm4:00 pm
Getting the Most from the Reference Convention Center Assembly and Reference Materials: Updates Room 349 and Developments from the Genome Reference Consortium (GRC) and Genome in a Bottle (GIAB)
*1:00 pm4:00 pm
Managing the Complex Patient with EhlersDanlos Syndrome
Convention Center Room 305
*2:00 pm3:30 pm
Interactive Invited Workshop: Growing the Public Knowledge Base for Clinical Genome Interpretation–An Interactive Workshop Harnessing the Resources of the ClinGen Project Separate advance ticket purchase required to attend.
Hilton Hotel Holiday Ballroom 1
2:00 pm4:00 pm
Baylor Exhibitor Education Event
Convention Center Room 327
4:30 pm5:00 pm
1. ASHG Presidential Address: All in the Family – or “Gee our old LaSalle ran great”
5:00 pm6:45 pm
2. Presidential Symposium: Genetic Convention Center Epidemiology at Scale: High Hall F Throughput Genomics Linked to Large Scale EHR Systems
Convention Center Hall F
*6:45 pm8:15 pm
ASHG Early Career Meet & Greet Separate advance ticket purchase required to attend.
Convention Center Camden Lobby level 3
6:45 pm8:15 pm
Global Alliance for Genomics and Health
Convention Center Room 349
*6:45 pm8:45 pm
American Journal of Medical Genetics Part A Editorial Board Meeting
Hilton Hotel Carroll
SCHEDULE
*12:00 pm2:00 pm
16 SCHEDULE 7:00 pm9:30 pm
#ASHG15 Tweetup Join your fellow #ASHG15 tweeters for drinks, conversation, and networking after the Presidential Address and Presidential Symposium.
Pratt Street Ale House Cantina Room
*7:00 pm8:00 pm
ACMG Committee Chairs Meeting
Hilton Hotel Ruth
7:00 pm8:15 pm
The Complexity of Uncertainty & Certainty: A New Drama of DNA
Hilton Hotel Key Ballroom 7/8
7:30 pm9:30 pm
Baylor College of Medicine Molecular and Human Genetics Reception
Hilton Hotel Key Ballroom 9-12
Wednesday, October 7 7:00 am5:00 pm
Scientific Registration Open
Convention Center Pratt Street Lobby
7:00 am7:00 pm
ASHG Trainee Lounge Open
Convention Center Pratt Street Lobby
*7:15 am8:45 am
Interactive Invited Workshop: Teaching Genomic Medicine: A Train-the-Trainer Workshop Separate advance ticket purchase required to attend.
Convention Center Room 339-342
*7:15 am8:45 am
Interactive Invited Workshop: UCSC Convention Center Genome Browser in the Clinic and the Lab Room 337 Separate advance ticket purchase required to attend.
7:15 am8:45 am
Affymetrix Exhibitor Education Event: Convention Center Implementing Tailored Solutions for Room 343 Epidemiological Studies in World Populations
7:15 am8:45 am
Lucigen Exhibitor Education Event: NxSeq NGS Sample Prep: New Tools for FFPE and Structural Variant Analysis
7:15 am8:45 am
Synthetic Genomics Exhibitor Education Event: Convention Center Seminar Series Sponsored by SGI-DNA Room 349
7:15 am8:45 am
WuXiNextCODE Exhibitor Education Event: Genomes for Breakfast: A Technical Deepdive into the Most Powerful System for Mining and Collaborating with Large-Scale NGS and Phenotype Data
Convention Center Room 336
*7:30 am8:30 am
ACMG Program Committee Meeting
Convention Center Room 306
7:30 am8:30 am
NEBNext NGS Exhibitor Education Event: New Developments and Applications
Convention Center Room 347
Convention Center Room 326
SCHEDULE 17
8:00 am4:00 pm
Exhibitor Registration Open
8:00 am5:00 pm
Speaker Presentation/Upload Room Open Convention Center Room 330
8:45 am9:45 am
3. ASHG/ESHG Building Bridges: Barriers Convention Center and Drivers for the Implementation of Hall F Clinical Sequencing: An International Discussion
Convention Center Upper Pratt Street Lobby
Exhibits and Posters Open Note: Exhibits and posters will be closed between 2:30 pm and 4:30 pm.
Convention Center Hall E
9:00 am7:00 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. Note: The Career Resources booth will be closed between 2:30 pm and 4:30 pm.
Convention Center Hall E
9:50 am10:30 am
4. Featured Plenary Abstract Session I
Convention Center Hall F
11:00 am1:00 pm
Concurrent Invited Sessions I:
Convention Center
5. Building the Genetic and Genomic Atlas of Gynecologic Health
Hilton Hotel Holiday Ballroom 1
6. Cancer Genetics in the Genomics Era
Hall F
7. Epilepsy Genetics: Exomes, Mechanisms, and Interventions
Room 327
8. Human Phenotypes for Researchers, Clinicians and Patients
Room 318/321
9. Looking Beyond the Genes: Noncoding Mutations and 21st Century Disease Genetics
Ballroom I
10. Maternal Age and Recombination: Risks to Aneuploidy
Room 309
11. Mendelian Disorders of the Epigenetic Machinery: Genetic Disorders with Epigenetic Consequences
Room 307
12. Policy Challenges Affecting Clinical Integration of Next-Generation Sequencing: Advancing Toward Resolution
Hilton Hotel Holiday Ballroom 4
SCHEDULE
9:00 am7:00 pm
18 SCHEDULE
13. Secure, Efficient, and Scalable Computational Genetics via Summary Statistics
Room 316
14. When You Know You’ve Found the One: Fine-Mapping GWAS Hits to a Single Variant
Ballroom III
1:00 pm2:30 pm
Lunch Break, Open Viewing for Posters and Exhibits
Convention Center Hall E
1:00 pm2:30 pm
ASHG Trainee Professional Development Program
Convention Center Room 336
1:00 pm: Understanding Search Committees & Finding Job Announcements 1:45 pm: Attitudes & Behaviors: How are you perceived? Space is limited. Admission on a first-come, first-served basis. Lunch refreshments available. *1:00 pm2:30 pm
ASHG Trainee-Mentor Luncheon Separate advance ticket purchase required to attend.
Convention Center Room 339
*1:00 pm2:30 pm
IFHGS Executive Board Meeting
Convention Center Room 333
*1:00 pm2:30 pm
ACMG Finance Committee Meeting
Convention Center Room 305
*1:00 pm2:30 pm
ACMG PPG Committee Meeting
Convention Center Room 306
*1:00 pm2:30 pm
Human Molecular Genetics Editorial Board Meeting
Convention Center Room 332
1:00 pm2:30 pm
Affymetrix Exhibitor Education Event: Microarrays and NGS in Reproductive Health Studies: Improving Performance and Complementing Results
Convention Center Room 337
1:00 pm2:30 pm
Agilent Technologies Exhibitor Education Event: Cover All Your Bases – More Discovery with Complementary Platforms
Hilton Hotel Peale
1:00 pm2:30 pm
Complete Genomics Exhibitor Education Event: Advances in Genome Sequencing
Hilton Hotel Key Ballroom 1/2/3
1:00 pm2:30 pm
10X Genomics Exhibitor Education Event: Upgrade Your Sequencing Data with Structural Variants and Haplotype Phasing
Hilton Hotel Key Ballroom 6
1:00 pm2:30 pm
ClinGen Resources Exhibitor Event
Hilton Hotel Johnson
SCHEDULE 19
Edico Genome Exhibitor Education Event: Hilton Hotel The Race Against the Clock: Using Rapid Key Ballroom 7 Whole-Genome Sequencing to Diagnosis Genetic Diseases at Children’s Mercy Kansas City
1:00 pm2:30 pm
GenomOncology Exhibitor Education Event: The Children’s National Story: Implementation of Personalized Sequencing Panels from a Medical Exome
Sheraton Hotel Loch Raven Room
1:00 pm2:30 pm
Illumina Exhibitor Education Event: Applications of Genomics: Research and Beyond
Convention Center Room 345
1:00 pm2:30 pm
Invitae Exhibitor Education Event: Bringing Genetics into Routine Healthcare
Hilton Hotel Key Ballroom 10/11
1:00 pm2:30 pm
Omicia Exhibitor Education Event: Implementing and Scaling the Informatics, Interpretation, and Reporting Infrastructure for NGS-Based Clinical Diagnostic Testing
Hilton Hotel Key Ballroom 12
1:00 pm2:30 pm
Pacific Biosciences Exhibitor Education Event: Addressing Missing Heritability through Long Read Single Molecule, RealTime (SMRT) Sequencing
Sheraton Hotel Chesapeake Ballroom I/II/III
1:00 pm2:30 pm
Qiagen Exhibitor Education Event: NGS Diagnostic Odyssey: From Bench to Bedside
Sheraton Hotel Harborview Ballroom I
1:00 pm2:30 pm
Sunquest Exhibitor Education Event: Information Systems Updates
Sheraton Hotel Harborview Ballroom II
1:00 pm2:30 pm
Thermo Fisher Scientific Exhibitor Education Event: From Single Genes to Panels: Latest Ion Torrent and Applied Biosystems Innovations for Clinical Research
Convention Center Room 347
1:00 pm2:30 pm
UK Biobank: a 500,000 Person Genotyped Cohort for use by the Research Community
Convention Center Room 343
1:00 pm2:30 pm
Fluidigm Exhibitor Education Event
Convention Center Room 349/350
*1:15 pm2:30 pm
ASHG Advocates Luncheon: The Precision Convention Center Medicine Initiative with Bray PatrickRoom 331 Lake (pre-registration required).
1:30 pm2:30 pm
Building Human Genetic Data Portals to Test Biological Hypotheses and Validate Therapeutic Targets. Presented by the Accelerating Medicines Partnership in Type 2 Diabetes, a Pharma/NIH Collaboration
Hilton Hotel Carroll
SCHEDULE
1:00 pm2:30 pm
20 SCHEDULE 2:30 pm4:30 pm
Concurrent Platform Session A:
15. Update on Breast and Prostate Cancer Ballroom I Genetics
16. Switching on to Regulatory Variation
Ballroom III
17. Shedding Light into the Dark: From Lung Disease to Autoimmune Disease
Room 307
18. Addressing the Difficult Regions of the Genome
Room 309
19. Statistical Genetics: Complex Phenotypes, Complex Solutions
Room 316
20. Think Globally, Act Locally: Copy Number Variation
Room 318/321
21. Recent Advances in the Genetic Basis of Neuromuscular and Other Neurodegenerative Phenotypes
Holiday Ballroom 1, Hilton Hotel
22. Neuropsychiatric Diseases of Childhood
Holiday Ballroom 4, Hilton Hotel
5:00 pm7:00 pm
Opening Poster Session and Reception (Wednesday Poster Authors Present)
Convention Center Hall E
*6:45 pm8:45 pm
The Jackson Laboratory Reception
Hilton Hotel Key Ballroom 6
7:00 pm8:30 pm
PALB2 Interest Group Meeting
Convention Center Room 332
*7:00 pm9:00 pm
Evidence Based Medicine Committee Meeting
Hilton Hotel Douglas
*7:00 pm9:00 pm
Human Mutation Editorial Board Meeting
Convention Center Room 331
7:00 pm9:00 pm
Tools to Enable Gene Discovery-Matchmaker Convention Center Exchange Community Engagement Room 339
7:00 pm9:00 pm
Duke University Human Genetics Alumni Reception
Hilton Hotel Calloway
7:00 pm9:00 pm
University of Iowa Alumni Reception
Sullivan’s Steakhouse, One East Pratt Street
7:00 pm9:00 pm
University of Michigan Department of Human Hilton Hotel Genetics Alumni Gathering Poe
7:00 pm9:30 pm
Case Western Reserve University and Cleveland Clinic Reception
Hilton Hotel Carroll
*7:00 pm10:00 pm
ACMG Lab QA Biochemical Genetics Subcommittee Meeting
Hilton Hotel Brent
Convention Center
SCHEDULE 21
ACMG Lab QA Cytogenetics Subcommittee Meeting
Hilton Hotel Chase
*7:00 pm10:00 pm
ACMG Lab QA Molecular Genetics Subcommittee Meeting
Hilton Hotel Stone
*7:00 pm10:00 pm
Fluidigm Event
Hilton Hotel Paca
7:00 pm11:00 pm
Science and AAAS Attendee Reception
Hilton Hotel Key Ballroom 1/2
*7:15 pm9:15 pm
ASHG Reception: Career Paths in Genetics Separate advance ticket purchase required to attend.
Convention Center Camden Lobby level 3
7:15 pm9:15 pm
UCLA Intercampus Medical Genetics Training Program and Department of Human Genetics
Hilton Hotel Tubman
7:30 pm9:00 pm
Family Health History: Its Role, Importance, Collection and Use in the Genomic Medicine Era
Convention Center Room 343
9:00 pm11:00 pm
CHOP/PENN Reunion
Hilton Hotel Pickersgill
7:00 am5:00 pm
Scientific Registration Open
Convention Center Pratt Street Lobby
7:00 am7:00 pm
ASHG Trainee Lounge Open
Convention Center Pratt Street Lobby
*7:15 am8:45 am
Interactive Invited Workshop: The Ensembl Toolkit for Big Data Access Separate advance ticket purchase required to attend.
Convention Center Room 337
*7:15 am8:45 am
Interactive Invited Workshop: Clinical Applications of Psychiatric Genomics Separate advance ticket purchase required to attend.
Convention Center Room 339
7:15 am8:45 am
BD Biosciences Exhibitor Education Event: High Throughput Cell Sorting for Downstream Genomic Analysis
Convention Center Room 349
*7:30 am8:30 am
ASHG Past Presidents Breakfast
Convention Center Room 305
*7:30 am8:30 am
ACMG Education and CME Committee
Convention Center Room 306
7:45 am8:45 am
BioMarin Pharmaceutical Exhibitor Education Convention Center Event: Overcoming Challenges of Morquio A Room 326 Diagnosis – The Latest from the Lab and the Clinic
Thursday, October 8
SCHEDULE
*7:00 pm10:00 pm
22 SCHEDULE 7:45 am8:45 am
Illumina Exhibitor Education Event: Beyond the Box: Customer Perspectives in Adopting Integrated Sequencing Workflows
Convention Center Room 324
7:45 am8:45 am
Nanostring Exhibitor Education Event
Convention Center Room 345
7:45 am8:45 am
Natera Exhibitor Education Event: Detection of SNVs and CNVs in Circulating Tumor DNA using Massively-Multiplexed PCR
Convention Center Room 347
7:45 am8:45 am
Personalis Exhibitor Education Event: Dissecting the Diagnostic Yield in Clinical Genomic Testing
Convention Center Room 343
7:45 am8:45 am
Tute Genomics Exhibitor Education Event: Grand Rounds in Pediatric Genomic Medicine - Using Exome Sequencing to End the Diagnostic Odyssey for Rare & Undiagnosed Diseases
Convention Center Room 332
7:45 am8:45 am
LC Sciences Exhibitor Education Event: VariantPro™ - An Innovative One Step, Multiplex PCR Based Targeted Sequencing Method that Accomplishes Both Target Selection and Library Amplification, and Produces Amplicons of High Uniformity & Specificity
Convention Center Room 336
*8:00 am9:00 am
ASHG Communications Committee Meeting
Convention Center Room 304
8:00 am3:00 pm
Exhibitor Registration Open
Convention Center Upper Pratt Street Lobby
8:00 am5:00 pm
Speaker Presentation/Upload Room Open Convention Center Room 330
9:00 am10:30 am
23. Distinguished Speakers Symposium: The Art and Science of Science Communication
Convention Center Hall F
9:00 am3:00 pm
Exhibits and Posters Open
Convention Center Hall E
9:00 am3:00 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.
Convention Center Hall E
11:00 am1:00 pm
Poster Session II (Thursday Poster Authors Present)
Convention Center Hall E
1:00 pm2:30 pm
Lunch Break, Open Viewing for Posters and Exhibits
Convention Center Hall E
SCHEDULE 23
1:00 pm2:30 pm
ASHG Trainee Professional Development Program
Convention Center Room 336
SCHEDULE
1:00 pm: Attitudes & Behaviors: How are you perceived? 1:45 pm: Understanding Search Committees & Finding Job Announcements Space is limited. Admission on a first-come, first-served basis. Lunch refreshments available. *1:00 pm2:30 pm
ASHG Event: Diagnostic Challenges: Review and Discussion of Unique Cases Separate advance ticket purchase required to attend.
Convention Center Room 339
1:00 pm2:30 pm
Poster Walk I
Convention Center Hall E
*1:00 pm2:30 pm
AJHG Editorial Board Meeting
Convention Center Room 331
*1:00 pm2:30 pm
ASHG Diversity Luncheon
Convention Center Room 332
1:00 pm2:30 pm
Bio-Rad Laboratories Exhibitor Education Event: Advanced Genomic Discoveries with Droplet Digital PCR
Convention Center Room 349
*1:00 pm2:30 pm
ACMG Economics of Genetics Services Committee Meeting
Convention Center Room 306
1:00 pm2:30 pm
Swift Biosciences Exhibitor Education Event: Improving Whole Human Genome Sequencing on Illumina® Platforms
Sheraton Hotel Chesapeake Ballroom II
1:00 pm2:30 pm
Agilent Technologies Exhibitor Education Event: A Complete Solution for Complete Success. The (NEW) 4200 TapeStation System for True End-to-End Sample QC Within any NGS Workflow
Convention Center Room 347
1:00 pm2:30 pm
Association of Professors of Human and Medical Genetics (APHMG) and SIGs Business Meeting and Lunch
Hilton Hotel Calloway
1:00 pm2:30 pm
BGI Exhibitor Education Event: New Sequencing Platforms Enabling Largescale and Clinical Sequencing Applications, with Success Stories in Therapeutic and Epidemiology research from our clients
Convention Center Room 327
1:00 pm2:30 pm
Cartagenia Exhibitor Education Event: Implementing NGS in a Clinical Setting: From Routine Diagnostics to Undiagnosed Diseases
Sheraton Hotel Harborview Ballroom I/II
24 SCHEDULE 1:00 pm2:30 pm
DNAnexus Exhibitor Education Event: Genomics and Informatics for the Next Five Years - Challenges, Solutions, and Opportunities
Convention Center Room 345
1:00 pm2:30 pm
Macrogen Exhibitor Education Event: Next Generation Sequencing: A Key to New Discoveries
Hilton Hotel Key Ballroom 8
1:00 pm2:30 pm
BioDiscovery Exhibitor Education Event: A Complete System for Pre-natal, Post-natal, and Oncology Testing Data Management, Interpretation, and Reporting
Sheraton Hotel Camden Room
1:00 pm2:30 pm
Personalis Exhibitor Education Event: Comprehensive Tumor Characterization Solutions for Clinical Trials, Cancer Research and Immuno-Oncology
Hilton Hotel Johnson
1:00 pm2:30 pm
Qiagen Exhibitor Education Event: Achieving Valuable Insight from a Single Cell Genome
Convention Center Room 337
1:00 pm2:30 pm
Roche Exhibitor Education Event
Convention Center Room 343
*1:00 pm2:30 pm
The Human Variome Project: Genetic Journal Convention Center Editor’s meeting Room 333
1:00 pm2:30 pm
WuXiNextCODE Exhibitor Education Event: Big Genomics In Practice: the Integrated and Efficient Use of Massive NGS Data for Diagnostics and Discovery
Sheraton Hotel Chesapeake Ballroom I
1:45 pm2:30 pm
PerkinElmer Exhibitor Education Event: Applications of Next Generation Sequencing in Pediatrics
Sheraton Hotel Potomac
2:30 pm4:30 pm
Concurrent Platform Session B:
Convention Center
24. Going All In: Experimental Characterization of Complex Trait Loci
Ballroom I
25. Powering Up Complex Trait Genetics
Ballroom III
26. Hereditary Cancer Genes: Old and New
Room 307
27. Advances in Epigenetics: What Would Waddington Say?
Room 309
28. Adult-onset Neuropsychiatric Disease
Room 316
29. The Ever-Changing Chromosome
Room 318/321
30. Connecting the Dots: Hard and Soft Tissue Syndromes
Hilton Hotel Holiday Ballroom 1
SCHEDULE 25
31. Genetics/Genomics Education: From Pupils to Parents
Hilton Hotel Holiday Ballroom 4
5:00 pm7:00 pm
Concurrent Platform Session C:
Convention Center
32. Human-wide Association Studies: More Genotypes, More Phenotypes, More Diverse Populations
Ballroom I
33. Decoding Variants in Coding Regions
Ballroom III
34. The Real Next Gen: Reproductive Genetics
Room 307
35. Genetic Problems of the Heart, Aorta, and Valves
Room 309
36. Methods Matter: Approaches for Genomic Analysis
Room 316
37. Clinical Genetics: From Sequence to Mechanism
Room 318/321
38. Clinical Impact of Genetic Variation
Hilton Hotel Holiday Ballroom 1
39. Mendel and Beyond: Looking through Genome Sequences
Hilton Hotel Holiday Ballroom 4
6:45 pm8:45 pm
CCMG & CIHR Institute of Genetics Mixer with SickKids Centre for Genetic Medicine
Hilton Hotel Key Ballroom 7
7:00 pm7:45 pm
Kapa Biosystems Exhibitor Education Event: Convention Center Optimized Library Generation for Epigenomic Room 343 Analyses of Ultra-Low Input Sample
7:00 pm8:00 pm
ASHG Themed Networking Reception 1: Mendel’s 150th Anniversary Celebration
Convention Center Charles Street Lobby
7:00 pm8:00 pm
ASHG Themed Networking Reception 2: Speaker Speed Networking
Convention Center Ballroom Foyer
*7:00 pm8:00 pm
ACMG Social, Ethical and Legal Issues Committee
Hilton Hotel Stone
*7:00 pm8:00 pm
The Human Variome Project Members’ Networking Reception
Sheraton Hotel Potomac Terrace
7:00 pm9:00 pm
1000 Genomes Project Data Tutorial
Convention Center Room 327
7:00 pm9:00 pm
Centogene Exhibitor Education Event: Rare Hilton Hotel Key Genetic Variants Decoded: the Importance of Ballroom 8 Clinically Annotated Mutation Databases
7:00 pm9:00 pm
Korean Human and Medical Geneticists Reception
Hilton Hotel Paca
*7:00 pm9:00 pm
Mount Sinai Alumni Reception
Hilton Hotel Calloway
SCHEDULE
26 SCHEDULE 7:00 pm9:30 pm
Regeneron Genetics Center Reception
Hilton Hotel Peale
*7:00 pm10:00 pm
ACMG Lab QA Full Committee Meeting
Hilton Hotel Poe
7:30 pm9:30 pm
University of Maryland School of Medicine/ Program for Personalized & Genomic Medicine/Institute for Genome Sciences Reception
Hilton Hotel Ruth
7:30 pm9:30 pm
University of Pittsburgh Reunion
Tir NA Nog 201 E. Pratt St 2nd floor
*8:00 pm11:00 pm
Fluidigm Launch Party
Off-site
8:30 pm10:30 pm
University of Chicago Department of Human Genetics Dessert Reception
Hilton Hotel Johnson
*7:00 am8:30 am
ASHG Information and Education Committee Meeting
Convention Center Room 304
*7:00 am9:00 am
ACMG Maintenance of Certification Committee
Convention Center Room 306
7:00 am7:00 pm
ASHG Trainee Lounge Open
Convention Center Pratt Street Lobby
*7:15 am8:45 am
Interactive Invited Workshop: Introduction Convention Center to Integrative Analysis with GenomeSpace Room 337 Separate advance ticket purchase required to attend.
*7:15 am8:45 am
Interactive Invited Workshop: Latest and Greatest Innovation in Variant Discovery with GATK Separate advance ticket purchase required to attend.
Convention Center Room 343
*7:15 am8:45 am
Behind the Scenes: Mock NIH Study Section Workshop Separate advance ticket purchase required to attend.
Convention Center Room 326
*7:15 am8:45 am
Meeting of the ASHG Virtual Meeting Advisory Committee (VMAC)
Convention Center Room 305
7:15 am8:45 am
Beckman Coulter Exhibitor Education Event
Convention Center Room 349
7:15 am8:45 am
Canon BioMedical Exhibitor Education Event: Introducing Your New Partner in Genetic Research
Hilton Hotel Poe
7:30 am5:00 pm
Scientific Registration Open
Convention Center Pratt Street Lobby
Friday, October 9
SCHEDULE 27
Exhibits Advisory Committee Meeting
Convention Center Room 334
7:45 am8:45 am
Ambry Genetics Exhibitor Education Event: The Evaluation of the Molecular Basis of Disease (EMBoDy): Analysis and Reporting of Novel Genetic Etiologies in Diagnostic Exome Sequencing
Convention Center Room 339
7:45 am8:45 am
Pathway Genomics Exhibitor Education Event: An Overview of our Recent Additions to our Testing Menu
Convention Center Room 345
8:00 am2:30 pm
Exhibitor Registration Open
Convention Center Upper Pratt Street Lobby
8:00 am5:00 pm
Speaker Presentation/Upload Room Open Convention Center Room 330
9:00 am2:30 pm
Exhibits and Posters Open
Convention Center Hall E
9:00 am2:30 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.
Convention Center Hall E
8:45 am9:00 am
40. Gruber Genetics Prize Award Presentation and Rosalind Franklin Award Announcement
Convention Center Hall F
9:00 am9:30 am
41. ASHG William Allan Award Presentation Convention Center Hall F
9:30 am9:45 am
42. The ASHG Arno Motulsky-Barton Childs Award for Excellence in Human Genetics Education
Convention Center Hall F
9:45 am10:00 am
43. ASHG Victor A. McKusick Leadership Award Presentation
Convention Center Hall F
10:00 am10:15 am
44. ASHG Curt Stern Award Presentation
Convention Center Hall F
10:15 am10:30 am
45. ASHG Advocacy Award Presentation
Convention Center Hall F
10:45 am12:45 pm
Poster Session III (Friday Poster Authors Present)
Convention Center Hall E
12:45 pm2:15 pm
Lunch Break, Open Viewing for Posters and Exhibits
Convention Center Hall E
*12:45 pm2:15 pm
ASHG/NHGRI Public Policy and Education Fellows Luncheon
Convention Center Room 304
SCHEDULE
*7:30 am9:30 am
28 SCHEDULE 12:45 pm2:15 pm
ASHG Trainee Professional Development Program: Clinical Careers in Human Genetics Panel Discussion
Convention Center Room 336
Space is limited. Admission on a first-come, first-served basis. Lunch refreshments available. 12:45 pm2:15 pm
Poster Walk II
Convention Center Hall E
*12:45 pm-2:15 pm
Behind the Scenes: ASHG Publications Workshop Separate advance ticket purchase required to attend.
Convention Center Room 349
*12:45 pm-2:15 pm
ACMG Secondary Findings Maintenance Workgroup Meeting
Convention Center Room 306
*12:45 pm-2:15 pm
Clinical Genetics Editorial Board Meeting
Convention Center Room 331
12:45 pm2:15 pm
Human Variome Project HGVS Sequence Variant Description Workshop
Convention Center Room 343
12:45 pm2:15 pm
Raindance Technologies Exhibitor Education Event: Transforming Carrier Screening and Heterogeneous Inherited Disorder Research with Next-Gen DNA Sequencing
Convention Center Room 345
12:45 pm2:15 pm
Genomics in Africa: The Human Heredity and Convention Center Health in Africa (H3Africa) Project Room 324
1:00 pm1:45 pm
The Gruber Lecture
Convention Center Ballroom I
*1:00 pm2:15 pm
Molecular Case Studies Editorial Board Meeting
Hilton Hotel Calloway
2:15 pm4:15 pm
Concurrent Platform Session D:
Convention Center
46. Hen’s Teeth? Rare Variants and Common Disease
Ballroom I
47. The Zen of Gene and Variant Assessment
Ballroom III
48. New Genes and Mechanisms in Developmental Disorders and Intellectual Disabilities
Room 307
49. Statistical Genetics: Networks, Pathways, and Expression
Room 309
50. Going Platinum: Building a Better Genome
Room 316
SCHEDULE 29
51. Cancer Genetic Mechanisms
Room 318/321
52. Target Practice: Therapy for Genetic Diseases
Hilton Hotel Holiday Ballroom 1
53. The Real World: Translating Sequencing into the Clinic
Hilton Hotel Holiday Ballroom 4
4:30 pm6:30 pm
Concurrent Platform Session E:
Convention Center
54. Changing Landscape of Genomic Testing
Ballroom I
55. Making Connections: From DNA Looping to eQTLs and Tissue-specific Regulation
Ballroom III
56. Novel Genes, Novel Regulators, and Monogenic Diseases
Room 307
57. New Thoughts about Neurodevelopment and Intellectual Disability
Room 309
58. Schizophrenia and Brain Development
Room 316
59. Metabolic Traits and Disease: Discovery and Function
Room 318/321
60. The Ins and Outs of Blood Vessel Diseases
Hilton Hotel Holiday Ballroom 1
61. From Here to There: Reconstructing Human History
Hilton Hotel Holiday Ballroom 4
6:30 pm6:35 pm
62. C.W. Cotterman Awards Announcement
Convention Center Ballroom I
6:35 pm6:40 pm
63. Announcement of the Finalists for the Charles J. Epstein Trainee Awards for Excellence in Human Genetics Research
Convention Center Ballroom I
6:40 pm7:30 pm
64. ASHG Policy Forum and Business Meeting
Convention Center Ballroom I
*7:00 pm9:00 pm
Association of Chinese Geneticists in America (ACGA) Annual Meeting
Convention Center Room 343
7:00 pm10:00 pm
SickKids Genetic and Genome Biology Program Reception
Hilton Hotel Carroll
Saturday, October 10 7:00 am4:00 pm
ASHG Trainee Lounge Open
Convention Center Pratt Street Lobby
SCHEDULE
30 SCHEDULE *7:15 am8:45 am
Interactive Invited Workshop: Integrative Analysis Using ENCODE and Roadmap Epigenomics Data for Advanced Users Separate advance ticket purchase required to attend.
Convention Center Room 337
*7:15 am8:45 am
Interactive Invited Workshop: Introduction to NGS Visualization with the Integrative Genomics Viewer (IGV) Separate advance ticket purchase required to attend.
Convention Center Room 343
*7:30 am8:55 am
ASHG Training and Development Committee Meeting
Convention Center Room 304
8:00 am2:00 pm
Speaker Presentation/Upload Room Open Convention Center Room 330
8:55 am10:15 am
65. Featured Plenary Abstract Session II
Convention Center Hall F
10:30 am12:30 pm
Concurrent Platform Session F:
Convention Center
66. Computing Functional Variants
Ballroom I
67. Opening Up Big Data
Ballroom III
68. Statistical Genetics: Analyze Familywise
Room 307
69. The Causes and Consequences of Evolutionary Change
Room 309
70. Precision Cancer Sequencing
Room 316
71. New Insights in Gene Regulation
Room 318/321
72. Inborn Errors of Metabolism: Novel Disorders, Models, and Observations
Hilton Hotel Holiday Ballroom 1
73. Intellectual Ability and Disability
Hilton Hotel Holiday Ballroom 4
12:30 pm1:45 pm
Lunch Break
Convention Center
*12:30 pm-1:45 pm
ASHG Program Committee Meeting #2
Convention Center Room 331
*12:30 pm-1:45 pm
ASHG Awards Committee Meeting
Convention Center Room 332
1:45 pm3:45 pm
Concurrent Invited Sessions II:
Convention Center
SCHEDULE 31
74. Gene Editing/Rewriting the Genome: Moving from Association to Biology and Therapeutics
Ballroom III
75. Genetic Control of the Microbiome
Room 307
76. Integrating Genomes and Transcriptomes to Understand Human Disease
Hall F
77. Life Beyond Additive Variance
Room 316
78. Multiplexed and Multimodal Experimental Dissection of Genetic Variants
Ballroom I
79. Optimizing Clinical and Molecular Characterisation and Management in Skeletal Dysplasias: An Exemplary Model for Rare Genetic Diseases
Room 327
80. Research Partners, Not Subjects: Engaging Indigenous Peoples in Genetics
Hilton Hotel Holiday Ballroom 4
81. The Landscape of de novo Point Mutations in the Human Genome: How Many, Where, When and Why?
Room 309
82. Translating Genomic Knowledge into Clinical Practice
Hilton Hotel Holiday Ballroom 1
83. Understanding Disease Pathogenesis: A Grand Challenge for Model Organisms
Room 318/321
SCHEDULE
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E
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HALL A
301-Press Office 302-ASHG Meetings Office
Charles VIP
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Halls F access via Level 2
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ASHG TV
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324
325
326
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FIRST AID
Room 327
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Concurrent Scientific Session Rooms
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BALLROOM FOYER
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349
348
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344
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PRATT STREET LOBBY
AV OFFICE
BUSINESS CENTER
333
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Room 339-342
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CAMDEN TERRACE
Registration Area Coat and Luggage Check
Concurrent Scientific Sessions
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Room 330 Speaker Presentation Upload Room
BALLROOM III
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Escalators down to Hall F entrance
Escalators up to Ballrooms, Level 4
Room 318/321
Concurrent Scientific Sessions
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Up to 3rd and 4th Levels
Level 2
Ecalators from Charles Street Lobby
Skywalk to Sheraton and Hyatt Hotels
BALLROOM I
Room 314
Concurrent Scientific Sessions
OUTDOOR TERRACE
Level 4
Market Fresh Cafe
F C
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ESC
F C
ENTRANCE Exhibits, Posters, ASHG Central, Career Resources.
HALL E
Exhibits and Posters Halls A-E
Room 309
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Room 307
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Concurrent Scientific Sessions
HALL D
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Concurrent Scientific Sessions
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Family/Nursing Mothers Room
Entrance to Hall F
Bridge to Hilton Hotel Holiday Ballroom 1 Holiday Ballroom 4
SKYWALK to Hilton
Room 336: Professional Development Theater
Down to Exhibits and Posters
PRATT STREET ENTRANCE
S
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Exhibitor Registration and Exhibitor Management Office
S
ELEVATOR
HOWARD STREET
ELEVATOR
Starbucks
SHARP STREET TERRACE TERRACE
Hall F Schedule: Presidential Address/Presidential Symposium (Tues) Featured Plenary Abstract Sessions (Wed/Sat) Building Bridges Symposium (Wed) Invited Sessions (Wed/Sat) Distinguished Speakers Symposium (Thurs) Award Presentations (Friday)
33
HOWARD STREET
MAP 1: BALTIMORE CONVENTION CENTER Baltimore Convention Center One West Pratt Street, Baltimore, Maryland 21201 Tel: 410-649-7000
First Floor
Third Floor
Escalators down to Level 1
Second Floor
Up to Level 2: Holiday Ballroom Access to Convention Center
Escalators and Elevators to Level 2 and bridge to Convention Center
Hotel Check-in
Hotel Main Entrance
Holiday Ballroom 4: Concurrent Scientific Sessions
Holiday Ballroom 1: Concurrent Scientific Sessions
TO CONVENTION CENTER
35
MAP 2: HILTON BALTIMORE Hilton Baltimore (Headquarters Hotel) 401 West Pratt Street, Baltimore, Maryland 21201 Tel: 443-573-8700
Hotel Locator Map
*1
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Charm City Circulator - Orange RouteRoute Charm City Circulator - Orange Charm City Circulator - Purple Route Charm City Circulator - Purple Route Charm City Circulator - Banner Route Charm City Circulator - Banner Route
Charm City Circulator - Green Route Charm City Circulator - Green Route
Visitors Center Visitors Center
Water Taxis Water Taxis
MARC Train MARC Train
Light Rail Light Rail
Metro Line Metro Line
Hospital
baltimore.org #VisitBaltimore instagram: visitbmore twitter: @baltimoremd facebook: bmoremd 1-877-baltimore
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Sheraton Inner Harbor Hotel
Royal Sonesta Harbor Center Court Baltimore Baltimore Convention
13. Sheraton Inner Harbor Hotel
12. Royal Sonesta Harbor Court
Renaissance Harborplace Hotel
Harborplace Hotel 11. Renaissance Marriott Inner Harbor Hotel at Camden Yards
Lord Baltimore Inner Harbor at Camden Yards 10. Marriott
9. Lord Baltimore
Hyatt Regency Baltimore
8. Hyatt Regency Baltimore
Hotel Monaco
7. Hotel Monaco
Suites by Hilton 6. Homewood Homewood Suites
Holiday InnInn Inner InnerHarbor Harbor 5. Holiday
4. Hilton Garden Inn Baltimore Inner Harbor
Hilton Garden Inn Baltimore Inner Harbor
3. Hampton Inn Baltimore - Convention Center
Inner HarborInner Hotel Harbor 2. Days Inn Hampton Inn & Suites
Hotel DaysHeadquarter Inn Inner Harbor Hotel
Hilton Baltimore - HEAD QUART ER HOT 1. *Hilton Baltimore Convention Center Hotel-EL
HOTELS
HOTELS
October 6-October 10 Baltimore, MD
2015 American Society of Human Genetics
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MAP 3: HOTEL LOCATOR MAP The housing counter telephone number is 410-649-6090. You may also contact onPeak at 800-219-8916 or
[email protected]. Below is a list of official ASHG hotels. Hilton (Headquarter Hotel): 443-573-8700 Baltimore Marriott: 410-962-0202 Days Inn: 410-576-1000 Hampton Inn: 410-685-5000 Hilton Garden Inn: 410-234-0065 Holiday Inn: 410-685-3500 Homewood Suites: 410-234-0999 Hotel Monaco: 443-692-6170 Lord Baltimore: 410-539-8400 Renaissance: 410-547-1200 Royal Sonesta: 410-234-0550 Sheraton: 410-962-8300 Hyatt Regency: 410-528-1234
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GENERAL INFORMATION ABOUT THE MEETING All events for the 65th Annual Meeting of the American Society of Human Genetics will be held at the Baltimore Convention Center (Convention Center), unless otherwise indicated. The Convention Center, also referred to as the BCC, is located at 1 West Pratt Street, Baltimore, MD 21201. Tel: 410-649-7000. All Annual Meeting details are available on the ASHG 2015 Annual Meeting website at www.ashg.org/2015meeting. Abstracts of the plenary, platform, and poster presentations may be viewed online only at the ASHG meeting website, www.ashg.org/2015meeting. Abstract search/ printing stations will be located in the registration area of the Convention Center. Speakers in the invited sessions do not provide published abstracts.
Invited Scientific Sessions: The program includes 20 invited scientific sessions that have been scheduled over two concurrent time periods as follows: • Concurrent Invited Sessions I: Wednesday from 11:00 am-1:00 pm • Concurrent Invited Sessions II: Saturday from 1:45-3:45 pm Plenary Sessions: The program includes several plenary sessions that have been scheduled as follows: • Presidential Address: Tuesday from 4:30-5:00 pm • Presidential Symposium: Tuesday from 5:00-6:30 pm • ASHG/ESHG Building Bridges Symposium: Wednesday from 8:45-9:45 am • Distinguished Speakers Symposium: Thursday from 9:00-10:30 am • Award Presentations: Friday from 8:45-10:30 am • Charles J. Epstein Trainee Awards: Friday from 6:30-6:35 pm • Cotterman Awards Presentation: Friday from 6:35-6:40 pm • ASHG Policy Forum and Business Meeting: Friday from 6:40-7:30 pm 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, followed by five minutes for discussion. • Featured Presentation I: Wednesday from 9:50-10:30 am (two abstracts) • Featured Presentation II: Saturday from 8:55-10:15 am (four abstracts) Platform Sessions (abstract-driven): The Program Committee has assembled 48 abstract-driven platform sessions totaling 384 oral presentations. Each presenting author will give a 10-minute talk followed by five minutes of discussion. There are six sets of eight concurrent platform sessions, consisting of eight presentations each and programmed as follows: • Concurrent Platform Sessions A: Wednesday from 2:30-4:30 pm • Concurrent Platform Sessions B: Thursday from 2:30-4:30 pm • Concurrent Platform Sessions C: Thursday from 5:00-7:00 pm
GENERAL INFORMATION
The registration fee includes entry to all invited scientific sessions, platform sessions, invited plenary sessions, the award presentations, the business meeting, poster sessions, and exhibits.
40 GENERAL INFORMATION
• Concurrent Platform Sessions D: Friday from 2:15-4:15 pm • Concurrent Platform Sessions E: Friday from 4:30-6:30 pm • Concurrent Platform Sessions F: Saturday from 10:30 am-12:30 pm Poster Sessions (abstract-driven): Poster listings include 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 a W (Wednesday), T (Thursday), or F (Friday) to indicate the day on which authors must be present at their poster board. Each author is expected to be present for at least one of the two hours during that day. The posters will remain on the boards for all three poster sessions. New for 2015! Reviewers’ Choice Abstracts This year, the top 10% of posters by topic, as determined by the reviewers’ scores of the submitted abstracts, will receive a Reviewers’ Choice Abstract Ribbon, which will be placed directly on the poster board. Look for the ‡ symbol next to poster listings and keep an eye out for these high-scoring posters as you make your way through the poster hall. New for 2015! Opening Poster Session and Reception (Wednesday) Celebrate the first full day of sessions, view posters, and visit exhibitor booths over light refreshments. Posters will be grouped by topic area, offering a logical way to find colleagues with similar interests and exchange ideas. This event is open to all ASHG attendees. Each attendee will receive a complimentary drink. New for 2015! Themed Receptions (Thursday from 7:00-8:00 pm) Reception 1: Mendel’s 150th Anniversary, Charles Street Lobby, Level 1 Reception 2: Speaker Speed Networking, Ballroom Foyer, Level 4 Thursday’s platform sessions will be followed by two concurrent receptions, each with a different human genetics theme to encourage networking and collaboration. One reception will celebrate the 150th anniversary of Gregor Mendel’s landmark publication on plant hybridization with an exhibit highlighting his life and work. The other will enable “speed networking” interactions with invited concurrent speakers. Attend one or both of these receptions and continue your conversations about the latest research, socialize with your colleagues, and meet presenters. Light refreshments and soft drinks will be provided, and a cash bar will be available. This event is open to scientific registrants only. 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 network SSID ASHG15. A password is not required. If you have technical issues, contact the help line: 410-6497099. 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 the Pratt Street Lobby. Attendees are asked to limit their time on the computers in the Cyber Café to 15 minutes per session. Mobile App Download the ASHG 2015 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/2015meeting.
GENERAL INFORMATION 41
Social Media Policy Please refer to the ASHG 2015 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, on challenges that the field and the Society will face, and on other meeting events. Use hashtag #ASHG15 on social media 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.
Photography/Camera/Recording Policy Attendees are strictly prohibited from using cameras, including mobile phone and tablet cameras, and all other audio and/or video recording devices in all meeting session rooms. This means attendees may not take photos or video of speakers presenting or their slides. Attendees not adhering to this policy may be asked to leave the room and will be asked to delete all photos 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. Many session slides will be available after the meeting as outlined in our new policy below. Attendees are asked to be respectful of their colleagues by turning off all mobile devices before entering meeting rooms. Official photographs will be taken at the ASHG 2015 Annual Meeting. By registering for this meeting, you agree to allow ASHG to use your photo in any ASHG-related publications, including the ASHG website. New Slide Sharing Policy for 2015: To eliminate the need to use cameras during the oral sessions, ASHG will set up a secure, slide-sharing website for speakers who wish to share their slides with fellow ASHG 2015 attendees. When uploading their slides for presentation, speakers will be asked to indicate whether or not their slides may be shared. Speakers should be sure to certify that they have the necessary permissions for all slide content. New Poster Photo Policy for 2015: Attendees may take photos of posters if the poster author agrees. Authors who do not want their posters to be photographed will have to indicate as such on their posters, using an image file supplied by ASHG. The image can be downloaded from the 2015 website. Food Service ASHG will provide coffee service each morning outside the entrance to Hall F. In addition, ASHG will provide light lunch refreshments inside the Exhibit Hall Wednesday through Friday. Starbucks is located in the Pratt Street Lobby, Level 3. The Market Fresh Café is located on Level 3 outside Room 310 and will offer hot and cold sandwiches, salads, as well as a variety of other food options. 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
Curious about the other social media users attending the meeting? Stop by the #ASHG15 Tweetup on Tuesday at 7:00 pm, at the Pratt Street Ale House across the street from the Convention Center. This event is open to all attendees, including press and exhibitors, and the first 100 guests will receive a complimentary drink.
42 GENERAL INFORMATION
REGISTRATION, BADGE, AND PROGRAM PICKUP Scientific meeting registration, badge, program, and bag pickup is located in the Pratt Street Lobby, Level 3 of the Convention Center, and is open during the following hours: Tuesday Wednesday Thursday Friday Saturday
10:00 am-6:00 pm 7:00 am-5:00 pm 8:00 am-5:00 pm 8:00 am-5:00 pm 8:00 am-2:00 pm
The registration fee includes entry to all invited scientific sessions, platform sessions, plenary sessions, the Presidential Address and Presidential Symposium, award presentations, the Distinguished Speakers Symposium, the ASHG/ESHG Building Bridges session, the business meeting, poster sessions, and exhibits. The fee does not include admission to separate ticketed events and does not include meals. Ancillary and exhibitor educational events are free to scientific registrants (unless the organizer requested a closed/invitation-only event) on a first-come, first-served basis. The back of your badge is your registration receipt. Please retain this for your records. A 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. On-site registration fees are shown below in U.S. dollars. ASHG Member $600 Non-member $850 ASHG Trainee Member $300 Trainee Non-member $525 One-day Trainee $95 One-day Non-trainee $375 Developing Country $250 Guest Registration $125 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 only. The guest registration does not include access to scientific sessions. To register as a guest, you must be accompanied by a paying scientific registrant.
GENERAL INFORMATION 43
MEETING OFFICES AND KEY LOCATIONS The following office locations are in the convention center unless otherwise indicated. Office hours will be posted on site. All telephone numbers listed below will be operational from Monday, October 5 through Saturday, October 10. ASHG Office and Meeting Logistics Room 302, Level 3 Telephone: 410-649-6098
Information Pratt Street Lobby, Level 3 Telephone: 410-649-6074
ASHG Central/Membership Services Exhibit Hall, Level 1 Telephone: 410-649-6110
Luggage Storage and Coat Check Pratt Street Lobby, Level 3
Exhibit Registration/Exhibit Management Upper Pratt Street Lobby, Level 1 Telephone: 410-649-6062 Family/Nursing Mothers Room Upper Pratt Street Lobby, Level 1 First Aid Pratt Street Lobby, Level 3 Dial 7055 from any house phone located in the hallways outside all meeting rooms. Call 410-649-7055 from your mobile device. Housing/Hotel Information Pratt Street Lobby, Level 3 ASHG 2015 Housing Bureau (onPeak) Tel: 1-800-219-8916 Housing Counter: 410-649-6090 Email:
[email protected]
Prayer/Meditation Room Otterbein Lobby North, Level 2 (near entrance to Halls F/G) Press Office and Press Registration Room 301, Level 3 Telephone: 410-649-6122 Registration Management/Registration Help Pratt Street Lobby, Level 3 Telephone: 410-649-6078 Restaurant Information/Tours and Activities Pratt Street Lobby, Level 3 Security/Emergency Dial 7055 from any house phone located in the hallways outside all meeting rooms. Speaker-Ready/Presentation Uploads Room 330, Level 3 Blake Room, Hilton Hotel (only for speakers presenting in the Holiday Ballroom) Telephone: 410-649-6114 Refer to page 236 for hours and instructions.
GENERAL INFORMATION
Business Center Pratt Street Lobby, Level 3 Telephone: 410-649-7194
TRAINEE AWARDS 45
TRAINEE PROFESSIONAL DEVELOPMENT PROGRAM Room 336, Level 3 Wednesday 1:00 pm: Understanding Search Committees & Finding Job Announcements, Andrew Green, PhD 1:45 pm: Attitudes & Behaviors: How are You Perceived?, Judy Blumenthal, PhD
Friday 12:45 pm: Clinical Careers in Human Genetics Panel featuring: Gorka Alkorta-Aranburu, Clinical Molecular Fellow, University of Chicago Kristen L. Deak, Associate Director, Duke Cytogenetics Laboratory Tina Hambuch, Director, Clinical Services, Illumina Amy Knight Johnson, Senior Genetic Counselor, University of Chicago Michael Francis Murray, Clinical Geneticist, Geisinger Health System ****************************************** ASHG/FASEB CAREER RESOURCES BOOTH Exhibit Hall, Booth #2303 Wednesday: 9:00 am-2:30 pm, 4:30-7:00 pm Thursday: 9:00 am-3:00 pm Friday: 9:00 am-2:30 pm The Career Resources Booth is located in the Exhibit Hall and offers career guidance, interview tips, resume/CV critiques, and more. Stop by for an appointment for one-on-one coaching. Employment boards will be available in this area for viewing and posting positions. ****************************************** ASHG TRAINEE LOUNGE Pratt Street Lobby, Level 3 Wednesday-Friday: 7:00 am-7:00 pm Saturday: 7:00 am-4:00 pm The Trainee Lounge located in the Pratt Street Lobby is specifically designed for our early career attendees and provides an area for trainees to network, discuss poster and session highlights, and relax away from the excitement of the meeting. Trainee members of ASHG committees will be available on Thursday from 1:00-2:30 pm to answer any questions and explain the opportunities ASHG has to offer trainees at the meeting and beyond.
TRAINEE AWARDS
Thursday 1:00 pm: Attitudes & Behaviors: How are You Perceived?, Judy Blumenthal, PhD 1:45 pm: Understanding Search Committees & Finding Job Announcements, Andrew Green, PhD
46 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 for the Annual Meeting. Congratulations to the 64 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 finalists will be announced at the Epstein Finalist Acknowledgement on Friday, October 9 at 6:35 pm (immediately prior to the business meeting). The winners will be announced after the Annual Meeting. Members of the Awards Committee are Beth Sullivan, Chair; Fowzan Alkuraya; Valerie Arboleda; Raju Kucherlapati; Charles Lee; Silvere M. van der Maarel; and Neil J. Risch (ex officio). Name, Presentation, Date, and Time
Session Number
Program Number
Award Category
Room
Gusev, A. Wednesday, 2:30 pm (Platform) Integrative approaches for large-scale ...
16
11
Postdoctoral Ballroom III Level 4
Tilgner, H. Wednesday, 3:00 pm (Platform) Comprehensive transcriptome analysis using ...
16
13
Postdoctoral Ballroom III Level 4
19 Samocha, K. E. Wednesday, 4:00 pm (Platform) Evaluation of the regional variability of ...
41
Predoctoral
Tukiainen, T. Wednesday, 4:15 pm (Platform) The landscape of X inactivation across ...
16
18
Postdoctoral Ballroom III Level 4
Lu, Q. Thursday, 2:30 pm (Platform) Integrative tissue-specific functional ...
25
75
Predoctoral
Barakat, S. Thursday, 3:45 pm (Platform) RNF12 is essential for X-inactivation in ...
27
96
Postdoctoral Room 309 Level 3
McCoy, R. C. Thursday, 5:15 pm (Platform) Complex mitotic-origin aneuploidy in human ...
34
148
Postdoctoral Room 307 Level 3
Room 316 Level 3
Ballroom III Level 4
TRAINEE AWARDS 47
37
173
Predoctoral
Room 318/321 Level 3
Gonzaludo, N. Thursday, 6:15 pm (Platform) Assessing the clinical impact of ...
38
184
Predoctoral
Holiday Ballroom 1 2nd Floor
Cohen, A. J. Friday, 3:15 pm (Platform) Recurrent acquisition of super enhancer ...
51
239
Predoctoral
Room 318/321 Level 3
Rao, S. Friday, 4:30 pm (Platform) Extremely high resolution 3D maps of human ...
55
267
Predoctoral
Ballroom III Level 4
Singh, T. Friday, 5:30 pm (Platform) A meta-analysis of >16,000 exomes ...
58
295
Predoctoral
Room 316 Level 3
Alaimo, J. T. Friday, 5:45 pm (Platform) Integration of functional ...
57
288
Postdoctoral Room 309 Level 3
1957/W
Postdoctoral Exhibit Hall Level 1
Liu, P. Wednesday, 5:00 pm - 6:00 pm (Poster) Data re-analyses lead to improved ... Jeremian, R. Saturday, 9:15 am (Plenary) Genetic and epigenetic factors affecting ...
65
324
Predoctoral
Redin, C. Saturday, 9:35 am (Plenary) Characterizing de novo balanced ...
65
325
Postdoctoral Hall F Level 1
70 Bonilla, X. Saturday, 11:30 am (Platform) Candidate causal variants from three ...
363
Predoctoral
70
364
Postdoctoral Room 316 Level 3
Nikbakht, H. Saturday, 11:45 am (Platform) Recurrent somatic mutation in the MYC ...
Hall F Level 1
Room 316 Level 3
TRAINEE AWARDS
Asgari, S. Thursday, 5:30 pm (Platform) Loss-of-function mutations in IFIH1 ...
48 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 Aggarwala, Varun, 344 Arnold, Madeline, 379 Galinsky, Kevin, 352 Gao, Feng, 317 Hayeck, Tristan, 346 Iglesias Gonzalez, Adriana I, 67 Medina Gomez, Maria, 198 Minikel, Eric, 40 Narasimhan, Vagheesh, 353 Pham, Xuan, 296 Reijnders, Margot, 178 Schweiger, Regev, 81 Towers, Aaron, 91 Youngblom, Emily, 210
Postdoctoral Aguiar, Derek, 166 Anttila, Verneri, 1079W Astley, Christina, 36 Begum, Ferdouse, 1254W Bhatia, Gaurav, 196 Brand, Harrison, 50 Cantsilieris, Stuart, 47 Chen, Li, 387 Cheng, Ying, 294 Coban Akdemir, Zeynep, 194 diSibio, Guy, 207 Ebrahimi, Diako, 2692T Erwin, Jennifer, 46 George, Renee, 147 Geybels, Milan, 366 Golan, David, 220 Gu, Shen, 114 Highland, Heather, 305 Huang, Hailiang, 327 Iyer, Janani, 45 Kaakinen, Marika, 42 Lazaridis, Iosif, 318 Loh, Po-Ru, 38 Mahajan, Anubha, 299 Michailidou, Kyriaki, 3 Palamara, Pier, 354 Salpea, Paraskevi, 241 Sankararaman, Sriram, 319 Snijders Blok, Lot, 289 Stessman, Holly, 202 Turner, Tychele, 328 Wojcik, Genevieve, 1291T
The 18 finalists are listed on the previous page and are not included in the lists above.
MARC AWARDS 49
WELCOME TO THE 2015 FASEB MARC TRAVEL AWARDEES Each year, the ASHG/FASEB-MARC Program sponsors Travel Awards to help support the participation of postdoctoral fellows and students from minority institutions and historically black colleges and universities in the United States. Underrepresented minority students and postdoctoral fellows from majority institutions are also eligible to apply for these travel awards.
Sahar Mozaffari, University of Chicago
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).
FASEB TRAVEL AWARDS
Janina Jeff, Icahn School of Medicine at Mount Sinai
INVITED AND PLATFORM SESSIONS
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Tuesday, October 6 4:30 PM–5:00 PM
Tuesday, October 6 5:00 PM–6:45 PM
1. ASHG Presidential Address: All in the Family – or ‘Gee our old LaSalle ran great’
2. Presidential Symposium: Genetic Epidemiology at Scale: High Throughput Genomics Linked to Large Scale EHR Systems
Hall F, Level 1, Convention Center
Hall F, Level 1, Convention Center
Moderator: Neil Risch, ASHG 2015 President
The notion of family is seminal in human genetics for many reasons: the inheritance and genetic basis of traits is discerned from family patterns; arguments about heritability and nature versus nurture are derived from studies of family relationships; population genetic structure and social diversity are determined by patterns of mate choice; genetic information is typically delivered in the context of families. The classic 1970’s sitcom “All in the Family” broke new ground as it documented social changes occurring at the time, often leaving the family patriarch Archie Bunker at a loss. “All in the Family” has given way to “Modern Family” in our time, a show that documents further diversification of the classic family unit, including increasing intermarriage and gay couples. Definitions of family are evolving and expanding, as are definitions of race and gender. Our society of geneticists can also be considered a family, one that is large, diverse and specialized. At the same time, genomic technologies such as NIPT, whole genome sequencing and genome editing are advancing to the point of imminent common use in clinical practice. These dramatic shifts both in society and technology are pushing the boundaries of our experience, creating both challenges and opportunities, in research and clinical practice. Archie Bunker was often ill prepared to deal with the impact of modernity. Are we?
The past decade has witnessed the development of large electronic health record (EHR) based cohorts linked to genomic information, primarily genomewide genotyping. The power of such cohorts to produce novel genetic associations has been amply demonstrated. Currently and in the near future, resources such as the Kaiser Permanente Research Program on Genes, Environment and Health; the UK Biobank; the VA Million Veteran Program; and others are making available genetic data linked to comprehensive EHR-based clinical outcomes and traits on over a million people. At the same time, the President of the United States and the Director of NIH are spearheading a new Precision Medicine Initiative (PMI) to create a cohort of a million individuals that will support research into precision medicine and its clinical application. This symposium will provide an update on the latest developments of the PMI, and discussions of the various genetic, genomic, and epidemiological characteristics of this and other existing cohorts. Large EHR-based cohorts provide an unprecedented opportunity, and the goal is to maximize their utility for future research into the genetic and environmental origins of common diseases, their risk factors, prevention, and treatment. Introduction. The U. S. Precision Medicine Initiative. Francis Collins. NIH, Bethesda. Personalized medicine, an epidemiological perspective. David Hunter. Harvard T.H. Chan Sch Publ Hlth, Boston. Studying genetic variation in large cohorts. Naomi Wray. Univ Queensland, Australia. ‘Omics and electronic health records - a dynamic duo. Marylyn Ritchie. Geisinger Hlth System, Penn State Univ, State College.
INVITED AND PLATFORM SESSIONS
NEW for 2015: ASHG will set up a secure slide-sharing website for oral presentations. This is an opt-in policy for speakers who wish to share their slides. Slides will be available a few weeks after the meeting. 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.
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INVITED AND PLATFORM SESSIONS
Wednesday, October 7 8:45 AM–9:45 AM
Wednesday, October 7 9:50 AM–10:30 AM
3. ASHG/ESHG Building Bridges: Barriers and Drivers for the Implementation of Clinical Sequencing: An International Discussion
4. Featured Plenary Abstract Session I
Moderators: Chris Gunter, ASHG 2015 Program Chair Joris Veltman, ESHG 2016 Program Chair
1/9:50 Massively parallel experimental analysis of missense mutations in BRCA1 for interpreting clinical variants of uncertain significance. L. M. Starita, M. Islam, J. Gullingsrud, S. Fields, J. D. Parvin, J. Shendure.
Hall F, Level 1, Convention Center
Through the “Building Bridges” series, both the American and European Societies of Human Genetics have committed to discussion of important issues affecting their members. At ASHG 2015, this plenary session is a discussion with meeting attendees about perceptions of clinical sequencing in the US and the EU. Our speakers will cover the regulation of nextgeneration sequencing testing by the US FDA and implementation of sequencing in large cohort projects, as well as legislative proposals in the EU to restrict genetic testing and the community response to them.
Hall F, Level 1, Convention Center Moderator: Chris Gunter, 2015 Program Chair
2/10:10 Matrix metallopeptidase 21 (MMP21) is mutated in human heterotaxy and is an essential determinant of vertebrate left-right asymmetry. J. Amiel, A. Guimier, G. C. Gabriel, F. Bajolle, M. Tsang, H. Liu, A. Noll, L. D. Smith, S. Lyonnet, L. de Pontual, S. A. Murray, D. Bonnet, S. F. Kingsmore, P. Bouvagnet, C. W. Lo, C. T. Gordon.
8:45 AM: Introduction. 8:50 AM: Perspectives. Philippos Patsalis. Cyprus Inst. Neurology Genet. Elizabeth Mansfield. OIR/CDRH/FDA, Silver Spring. David Barton. Our Lady’s Children’s Hosp, Dublin, Ireland. Wendy Chung. Columbia Univ, New York. 9:15 AM: Discussion. This Building Bridges session is the third in a continuing series conducted in conjunction with the European Society of Human Genetics.
Coffee break begins at 10:30 am in the Exhibit Hall.
NEW for 2015: ASHG will set up a secure slide-sharing website for oral presentations. This is an opt-in policy for speakers who wish to share their slides. Slides will be available a few weeks after the meeting. 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.
INVITED AND PLATFORM SESSIONS
Wednesday, October 7 11:00 AM–1:00 PM Concurrent Invited Sessions I
Wednesday, October 7 11:00 AM–1:00 PM Concurrent Invited Sessions I
5. Building the Genetic and Genomic Atlas of Gynecologic Health
6. Cancer Genetics in the Genomics Era
Holiday Ballroom 1, 2nd Floor, Hilton Baltimore Hotel Moderators: Cecilia M. Lindgren, Broad Inst Harvard & MIT, Boston Stacey Missmer, Harvard Univ, Boston This will be the first comprehensive scientific session around the genetics and genomics of gynecologic health to be presented at the ASHG Annual Meeting. Endometriosis, polycystic ovary syndrome (PCOS), and uterine fibroids are highly prevalent gynecologic pathologies that underlie the most common indications for gynecologic interventions worldwide: pelvic pain, menorrhagia, and infertility. These conditions, as well as the ubiquitous impact of menarchal and menopausal timing on women’s health, demand the focus of complex disease and evolutionary geneticists. The primary focus of the proposed session will be on clinical characterization, data generation, analysis and results, including implications for the specific diseases and traits, for gene discovery and for biologic and clinical utility. We have brought together leaders in the field to discuss their experiences in applying a wide array of strategies for variant, gene and pathway discoveries, as well as a dissection of pleiotropy for these disorders and traits. Each of the invited speakers will discuss the significant advances made in genetic and genomic discovery (with a particular focus on novel and late-breaking findings as of October 2015), the challenges of and insights into phenotype classification and diagnosis of these conditions, and the broader biologic and clinical implications of these efforts. 11:00 AM Genetics of menarche and menopause reveal diverse biologic pathways. J. M. Murabito. Boston Univ Sch Med, Framingham.
11:30 AM Genetics and genomics of polycystic ovary syndrome (PCOS). C. M. Lindgren. Broad Inst Harvard & MIT, Boston.
12:30 PM From GWAS to therapy in uterine leiomyomata. C. Morton. Harvard Univ, Boston.
Hall F, Level 1, Convention Center Moderators: Daniel C. Koboldt, Washington Univ, St. Louis Adam S. Kibel, Brigham & Women’s Hosp, Boston High-throughput sequencing has fundamentally changed the field of human genetics, particularly in how we study genetic diseases like cancer. Candidate gene approaches – sequencing genes of interest in cancer genetics cohorts – have uncovered many rare pathogenic mutations predisposing individuals to certain cancer types, and GWAS efforts have implicated hundreds of genes with small to moderate effects on risk. Yet these loci collectively explain only a fraction of the heritability of cancer, suggesting that many genes remain to be discovered. The availability of large cancer genetics cohorts, combined with the unbiased discovery power of whole genome and exome sequencing, now empowers a comprehensive search for inherited factors (rare and common SNPs, indels, and structural variants) influencing cancer predisposition. Moreover, the ever-growing catalogues of tumor genome sequences – such as those created by the Cancer Genome Atlas (TCGA) and the International Cancer Genome Consortium (ICGC) – enable integrated analyses of germline variation with somatic mutation data across tumor types (i.e. pan-cancer analysis). In this session, we will describe progress in identifying new cancer genes, and highlight some of the challenges faced in the analysis and interpretation of large-scale cancer sequencing data in the genomics era. Topics that will be explored include: • Cellular and developmental origins of pediatric cancer • Key findings of pan-cancer analysis efforts • Computational pipelines to analyze largescale sequencing data • Opportunities for leveraging existing cancer genomics datasets • Strategies for integrative analysis of germline and somatic variants • Correlation of germline/somatic variation to clinical features such as tumor subtype. 11:00 AM Somatic mutations in pediatric solid tumors and identification of druggable pathways. M. A. Dyer. St Jude Children’s Res Hosp, Memphis.
11:30 AM Computational approaches for largescale cancer genetics. L. Ding. Washington Univ, St Louis. 12:00 PM Germline studies of the Pan-Cancer Analysis of Whole Genomes (PCAWG). J. Korbel. European Molec Biol Lab (EMBL), Heidelberg, Germany. 12:30 PM The somatic origins of cancer revealed through integrated pan-cancer analysis. J. Stuart. UC Santa Cruz.
NEW for 2015: ASHG will set up a secure slide-sharing website for oral presentations. This is an opt-in policy for speakers who wish to share their slides. Slides will be available a few weeks after the meeting. 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.
INVITED AND PLATFORM SESSIONS
12:00 PM Endometriosis: Genomics meets phenomics. K. Zondervan. Wellcome Trust Ctr for Human Genet, Oxford, UK.
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INVITED AND PLATFORM SESSIONS
Wednesday, October 7 11:00 AM–1:00 PM Concurrent Invited Sessions I
Wednesday, October 7 11:00 AM–1:00 PM Concurrent Invited Sessions I
7. Epilepsy Genetics: Exomes, Mechanisms, and Interventions
8. Human Phenotypes for Researchers, Clinicians and Patients
Room 327, Level 3, Convention Center Moderators: Miriam H. Meisler, Univ Michigan, Ann Arbor Heather C. Mefford, Univ Washington, Seattle Epilepsy is a common, heterogeneous disorder with an overall incidence of approximately 1/1000. Exome sequencing has revealed the important role of de novo mutations in non-familial epilepsy. Early Infantile Epileptic Encephalopathy (EIEE) is a catastrophic disorder that includes seizures, developmental delay, intellectual disability and susceptibility to sudden death (SUDEP). The session will begin with an overview of high throughput exome sequencing of individuals with EIEE. Well established functional assays in transfected cells and knock-in mice have been applied to investigate the effects of many de novo ion channel mutations. Both gain-of-function and loss-of-function mechanisms have been identified. Hot-spots for recurrent mutations have been identified, and intergenic interactions have been demonstrated in crosses between mice with knock-in mutations. Analysis of patient-derived iPSC cell lines has revealed the effect of patient mutations on firing patterns of reprogrammed neurons and cardiomyocytes, providing indications for clinical intervention. Drug screening in a zebrafish model of SCN1A mutation has identified lead compounds for development of novel therapies. Epilepsy research has thus incorporated a broad range of genetic approaches. The rapid progress in this field demonstrates the increasing impact of genetic research on treatment of genetic disease. 11:00 AM Exome sequencing in epilepsy. H. C. Mefford. Univ Washington, Seattle. 11:30 AM Functional effects of sodium channel mutations. M. H. Meisler. Univ Michigan, Ann Arbor. 12:00 PM Re-programmed neurons and cardiomyocytes from patient iPSCs. L. L. Isom. Univ Michigan, Ann Arbor. 12:30 PM High throughput drug discovery in a zebrafish model. S. C. Baraban. UC San Francisco.
Room 318/321, Level 3, Convention Center Moderator: Jonathan Haines, Case Western Reserve Univ, Cleveland
“Phenotype” means different things to different people and the definition may be affected by context. In biology, “phenotype” generally refers to the collection of observable traits of an organism, comprising its morphology; its physiology at the level of the cell, the organ, and the body; and its behavior, comprising even characteristics such as the gene expression profiles in response to environmental cues. In medicine, “phenotype” is commonly used to describe some deviation from normal morphology, physiology, or behavior, and combinations of phenotypes are used to make clinical diagnoses and prescribe treatment. Biomedical research, including genomic and epidemiologic studies, are now impacting clinical practice, and precise, consistent phenotypes are essential for investigators and clinicians to effectively communicate across all stages of the “bench to bedside” continuum. This session addresses what phenotype means in different contexts, the impact of how the phenotype is collected, and why phenotypes are integral to biomedical research and clinical practice. “What is a phenotype?” presents resources, context and approaches to acquiring phenotypic data. “How do we collect phenotypes?” presents options for collecting phenotypic data and suggestions for increasing consistency and collaboration. “Why are phenotypes important?” demonstrates the importance of consistent phenotypes to substantiate clinical genetics. “Who is involved?” underscores the growing involvement of patients in phenotype development. To facilitate discussion across the broad spectrum of “phenotype”, the four presentations will be limited to 20 minutes (plus 5 minutes for questions) with a 20 minute general discussion session at the end. 11:00 AM What is a phenotype? It depends… A. Kho. Northwestern Univ, Chicago. 11:30 AM How do we collect phenotypes? Common measures facilitate collaborative research. C. McCarty. Essentia Inst for Rural Hlth, Duluth. 12:00 PM Why are phenotypes important? Using phenotypes to support genomic interpretation and discovery. H. Rehm. Partners Lab for Molec Med & Harvard Med Sch, Cambridge. 12:30 PM Who is involved? Phenotypes as measures for research participants. J. O’Leary. Genetic Alliance
NEW for 2015: ASHG will set up a secure slide-sharing website for oral presentations. This is an opt-in policy for speakers who wish to share their slides. Slides will be available a few weeks after the meeting. 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.
INVITED AND PLATFORM SESSIONS
Wednesday, October 7 11:00 AM–1:00 PM Concurrent Invited Sessions I
Wednesday, October 7 11:00 AM–1:00 PM Concurrent Invited Sessions I
9. Looking Beyond the Genes: Non-coding Mutations and 21st Century Disease Genetics.
10. Maternal Age and Recombination: Risks to Aneuploidy
Ballroom I, Level 4, Convention Center Moderators: Malte Spielmann, Max Planck Inst for Molec Genet, Berlin, Germany Sumantra Chatterjee, Johns Hopkins Univ Sch Med, Baltimore
High-throughput genomic technologies are revolutionizing human genetics. So far the focus has been on the 1.5% of the genome that is coding, in spite of the fact that the great majority of genomic variants fall outside the coding regions. While whole genome sequencing studies have failed to identify coding mutations in 40% of the cases, there is evidence from recent efforts to annotate the noncoding sequence that over 80% of the genome is biochemically active. In this session, we review the recent advances in the identification of non-coding mutations and structural variations that influence gene regulation and their consequences for human disease. We show that mutations and structural variations outside of the coding genome can interfere with normal gene regulation by disrupting the regulatory landscape. Therefore, the regulatory landscape of the genome has also to be taken into consideration when investigating the pathology of human disease. Topics that will be explored include primary research results from leading groups in this field; discovery of cis regulatory elements, model systems to analyze non-coding mutations, in particular CRISPR-Cas, whole genome sequencing, and data analysis; and the broader implications of these efforts for biology and human genetics. 11:00 AM Deletion studies of distant-acting enhancers uncover their functions in human biology and disease processes. A. Visel. Genomics Div, Lawrence Berkeley Natl Lab, Berkeley. 11:30 AM The influence of structural variation on genomic integrity and gene regulation. M. Spielmann. Max Planck Inst for Molec Genet, Berlin, Germany.
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Room 309, Level 3, Convention Center Moderators: Ross Rowsey, Washington State Univ, Pullman Louise Newnham, Univ Sussex, Brighton, UK As a species, humans face a unique challenge to reproduction. For reasons not completely understood, we have an extraordinarily high rate of aneuploidy, with ~10% of clinically recognized pregnancies having a fetus with too many or too few chromosomes. The origin of the chromosome error has been widely studied, and two key risk factors have been identified: advanced maternal age and abnormal recombination. However, the etiology of aneuploidy remains a complex puzzle that we do not fully understand. Over the past few years, studies in both humans and model organisms have provided insight into factors that are key components of the generation of aneuploidy. While advanced maternal age remains a key risk factor because of the ever increasing average maternal age, abnormal recombination also is critical to understand, as every adequately studied human trisomy has been associated with abnormal recombination. In this session, we will discuss new findings helping us understand the recombination process, as well as the use of new technologies that are increasing our understanding of nondisjunction. 11:00 AM Human ‘MeioMaps’: Genome-wide meiotic recombination and chromosome segregation outcomes in individual human oocytes. L. Newnham. Univ Sussex, Brighton, UK. 11:30 AM Recombination initiation maps in human individuals. F. Pratto. Natl Inst Hlth, Bethesda. 12:00 PM Maintaining centromere identity in the mammalian oocyte. E. M. Smoak. Univ Pennsylvania, Philadelphia.
12:00 PM The enhancer mutation problem: Figuring out phenotype based on genotype. N. Ahituv. UC San Francisco. 12:30 PM Functional consequences of common non-coding polymorphisms in Hirschsprung disease. S. Chatterjee. Johns Hopkins Univ Sch Med, Baltimore.
NEW for 2015: ASHG will set up a secure slide-sharing website for oral presentations. This is an opt-in policy for speakers who wish to share their slides. Slides will be available a few weeks after the meeting. 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.
INVITED AND PLATFORM SESSIONS
12:30 PM Multiple routes to maternal age-related aneuploidy. R. Rowsey. Washington State Univ, Pullman.
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INVITED AND PLATFORM SESSIONS
Wednesday, October 7 11:00 AM–1:00 PM Concurrent Invited Sessions I
Wednesday, October 7 11:00 AM–1:00 PM Concurrent Invited Sessions I
11. Mendelian Disorders of the Epigenetic Machinery: Genetic Disorders with Epigenetic Consequences.
12. Policy Challenges Affecting Clinical Integration of Next-Generation Sequencing: Advancing Toward Resolution
Room 307, Level 3, Convention Center Moderators: Hans T. Bjornsson, McKusick-Nathans Inst Genet Med, Johns Hopkins Univ, Baltimore Sharon E. Smith, Boston Children’s Hosp, Boston
In the last several years a number of genetic defects involving various components of the epigenetic machinery have been uncovered. These Mendelian disorders of the epigenetic machinery are genetic disorders expected to have widespread epigenetic consequences. All these disorders lead to neurological dysfunction, either intellectual disability (majority) or progressive adult onset neurological phenotypes (DNMT1). In many ways, the study of this group of disorders offers a unique opportunity to understand the complex interactions of genetics and epigenetics in development and disease. Furthermore, given the inherent flexibility of epigenetic modifications, there are some emerging therapeutic possibilities on the horizon. In this session, we will describe current progress in exploring the pathogenic sequence in these disorders using high throughput methods, the discovery of relevant target genes, and the use of agents to modify epigenetic marks in an effort to ameliorate ongoing problems relating to defective epigenetic regulation. 11:00 AM Kabuki syndrome: A potentially treatable cause of intellectual disability. H. T. Bjornsson. McKusick-Nathans Inst Genet Med, Johns Hopkins Univ, Baltimore. 11:30 AM ATR-X syndrome: How defects of a chromatin remodeler lead to alpha thalassemia. R. Gibbons. Univ Oxford, John Radcliffe Hosp, Oxford, UK. 12:00 PM MBD5-associated intellectual disability: A methyl-binding protein that regulates target gene expression affecting circadian, developmental, and neurological pathways. S. H. Elsea. Baylor Col Med, Houston. 12:30 PM Defects of the maintenance methyltransferase DNMT1 lead to progressive neurological phenotypes in association with global hypomethylation. C. Klein. Mayo Clin, Rochester.
Holiday Ballroom 4, 2nd Floor, Hilton Baltimore Hotel Moderators: Mary A. Majumder, Baylor Col Med, Houston Robert Cook-Deegan, Duke Univ, Durham New policy approaches are needed to facilitate appropriate integration of next-generation sequencing (NGS) into clinical care. In particular, realizing the full potential benefit of this technology requires attention to challenges in three critical policy domains: oversight of the quality of tests and related services; intellectual property; and coverage and reimbursement. In this session, we begin by reviewing the results of the final phase of an innovative modified Delphi process with a broad group of stakeholders, which focused on identifying the three highest priority policy challenges related to clinical integration of NGS and assessing possible approaches to addressing these challenges. Building on this foundation, experts in the three policy domains will offer up-to-the-minute summaries of developments of interest to the genomics community in their respective areas of expertise and suggest strategies for attempting to resolve the policy challenges they believe pose the greatest barriers to clinical integration of NGS. 11:00 AM Barriers to clinical integration of next-generation sequencing and possible policy solutions: Results of an expert panel policy Delphi exercise. D. Messner. Ctr for Med Technol Policy, Baltimore. 11:30 AM Next-generation sequencing: What is the appropriate regulatory framework? G. Javitt. DLA Piper LLP, Washington, DC. 12:00 PM Proprietary databases: Gaining traction on an “intractable” problem. R. Cook-Deegan. Duke Univ, Durham. 12:30 PM Addressing reimbursement challenges for next-generation sequencing. P. Deverka. American Institutes for Res, Chapel Hill.
NEW for 2015: ASHG will set up a secure slide-sharing website for oral presentations. This is an opt-in policy for speakers who wish to share their slides. Slides will be available a few weeks after the meeting. 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.
INVITED AND PLATFORM SESSIONS
Wednesday, October 7 11:00 AM–1:00 PM Concurrent Invited Sessions I
Wednesday, October 7 11:00 AM–1:00 PM Concurrent Invited Sessions I
13. Secure, Efficient, and Scalable Computational Genetics via Summary Statistics
14. When You Know You’ve Found the One: FineMapping GWAS Hits to a Single Variant
Room 316, Level 3, Convention Center Moderators: Noah Zaitlen, UCSF, San Francisco Nancy J. Cox, Univ Chicago
Computational methods for identifying new risk loci, training risk prediction models, and fine-mapping causal variants from summary statistics of genomewide association studies are playing an increasingly important role in the human genetics community. This is due to two significant advantages when working with summary statistics as opposed to full genotype data. First, summary statistic-based methods are generally orders of magnitude faster than their genotype-based counterparts. The rapidly increasing size of existing and planned cohorts into the hundreds of thousands is causing computational bottlenecks for some standard analyses. Second, analyses of summary statistics are often a necessity since access to individual-level data is complicated by privacy and other issues. Indeed, high impact journals now require summary statistics to be publicly released as part of the publication process. In this session we will cover a range of methods that leverage summary statistics from GWAS and meta-analysis efforts to gain further insight into the biology of complex traits and to facilitate the translation of this knowledge into actionable targets to improve the health of people. 11:00 AM Fully powered polygenic prediction using summary statistics. A. Price. Harvard Sch Publ Hlth, Boston. 11:30 AM Mining GWAS summary statistics for insight into shared disease mechanisms. J. K. Pickrell. New York Genome Ctr, New York. 12:00 PM Integrative approaches for multi-ethnic fine-mapping of known risk loci. B. Pasaniuc. UCLA, Los Angeles.
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Ballroom III, Level 4, Convention Center Moderators: Jeffrey C. Barrett, Wellcome Trust Sanger Inst, Hinxton, UK Mark J. Daly, Massachussetts Gen Hosp, Boston Following up GWAS hits has been a major focus of complex disease geneticists in recent years. A number of papers have described general biological pathways or overall enrichments in functional genomics annotations, but often have assumed that GWAS will rarely be able to pinpoint exact causal variants. In this session we show that a range of approaches, including fine-mapping with very large sample sizes (which separate SNPs in high LD), or samples from multiple ethnicities (which have different LD patterns) can often identify one, or only a few, likely causal variants. We will also present experimental approaches, including cell-specific functional enrichment, massively parallel reporter assays and CRISPR/Cas9 genome editing, that can help narrow the search for causal variants. All four talks will focus on unpublished data, in addition to reviewing the literature. 11:00 AM Large scale fine-mapping in inflammatory bowel disease. J. C. Barrett. Wellcome Trust Sanger Inst, Hinxton, UK. 11:30 AM Trans-ancestry approaches to finemapping GWAS loci. K. L. Mohlke. Univ North Carolina, Chapel Hill. 12:00 PM The right cells in the right place. G. Trynka. Wellcome Trust Sanger Inst, Hinxton, UK. 12:30 PM High throughput experimental finemapping of individual variants. K. Musunuru. Harvard Stem Cell Inst, Cambridge.
NEW for 2015: ASHG will set up a secure slide-sharing website for oral presentations. This is an opt-in policy for speakers who wish to share their slides. Slides will be available a few weeks after the meeting. 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.
INVITED AND PLATFORM SESSIONS
12:30 PM Tissue-specific imputed transcriptome based gene level association test using summary statistics. H. Im. Univ Chicago.
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INVITED AND PLATFORM SESSIONS
Wednesday, October 7 2:30 PM–4:30 PM Concurrent Platform Session A 15. Update on Breast and Prostate Cancer Genetics
Ballroom I, Level 4, Convention Center Moderators: Melinda Aldrich, Vanderbilt Univ, Nashville Marc Tischowitz, Univ Cambridge, UK 3/2:30 Meta-analysis of OncoArray, iCOGS, and GWAS data for more than 220,000 women identifies more than 50 novel breast cancer susceptibility loci. K. Michailidou, S. Lindstrom, J. Dennis, D. J. Hunter, Z. Wang, S. Chanock, J. Simard, P. Kraft, D. F. Easton, on behalf of BCAC, DRIVE, and PERSPECTIVE. 4/2:45 Exome sequencing to identify new genes underlying early-onset breast cancer susceptibility. D. Koboldt, K. Kanchi, J. Ivanovich, R. Fulton, I. Borecki, P. Goodfellow, R. Wilson, E. Mardis. 5/3:00 Five independent 6q25 breast cancer risk variants regulate ESR1 and RMND1 and display genotype-phenotype correlations. S. Edwards, A. Dunning, K. Michailidou, K. Kuchenbaecker, D. Thompson, J. French, J. Beesley, C. Healy, S. Kar, K. Pooley, E. Dicks, D. Barrowdale, N. Sinnott-Armstrong, R. Cowper-Sallari, K. Hillman, S. Kaufmann, H. Sivakumaran, M. Moradi Marjaneh, E. Lopez-Knowles, M. Dowsett, P. Pharoah, J. Simard, P. Hall, M. GarciaClosas, C. Vachon, G. Chenevix-Trench, A. Antoniou, D. Easton.
8/3:45 Common genetic variants modify breast and prostate cancer risks for male BRCA1 and BRCA2 mutation carriers: Implications for risk prediction. L. Ottini, J. Lecarpentier, K. Kuchenbaecker, K. Offit, F. Couch, J. Simard, M. Thomassen, R. Schmutzler, G. Chenevix-Trench, D. Easton, A. C. Antoniou, on behalf of CIMBA. 9/4:00 Whole exome sequencing in 75 high-risk families identifies eight previously unknown prostate cancer susceptibility genes. D. M. Karyadi, M. S. Geybels, E. Karlins, B. Decker, L. McIntosh, S. Kolb, S. K. McDonnell, S. Middha, L. M. FitzGerald, M. S. DeRycke, D. J. Schaid, S. N. Thibodeau, J. L. Stanford, E. A. Ostrander. 10/4:15 Population and evolutionary genomics of prostate cancer-associated variants: Implications for health disparities in men of African descent. J. Lachance, C. Hanson, M. E. B. Hansen, S. A. Tishkoff, T. R. Rebbeck.
6/3:15 Breast cancer risk at the 5p12 locus is mediated through chromatin looping and regulation of FGF10 and MRPS30. M. Ghoussaini, J. French, K. Michailidou, S. Nord, J. Beesley, J. Dennis, K. Hillman, S. Kaufmann, E. Dicks, S. Ahmed, M. Maranian, C. S. Healey, C. Baynes, C. Luccarini, M. Bolla, J. Wang, V. N. Kristensen, P. D. P. Pharoah, G. Chenevix-Trench, D. F. Easton, A. M. Dunning, S. L. Edwards, Breast Cancer Assn Consortium. 7/3:30 Cross-cancer genome-wide pleiotropy analysis based on GAME-ON and GECCO across five common cancers: Lung, ovary, breast, prostate, and colon cancer. R. J. Hung, G. Fehringer, P. Kraft, C. A. Hiaman, P. Pharoah on behalf of OCAC, R. Eeles on behalf of PRACTICAL, N. Chatterjee, D. Seminara, S. Chanock, F. Schumacher, S. Lindström, K. Stefansson, D. C. Christiani, H. Shen, K. Shiraishi, A. Takahashi, AABC. AAPC, JAPC, LABC, LAPC, Y. Bosse, M. Obeidat, M. L. Freedman, U. Peters on behalf of GECCO, S. Gruber on behalf of CORET, C. I. Amos on behalf of TRICL/ILCCO, T. A. Sellers on behalf of FOCI, D. Easton on behalf of BCAC, D. J. Hunter on behalf of DRIVE, B. E. Henderson on behalf of ELLIPSE, Genetic Associations and Mechanisms in Oncology (GAME-ON) Network.
NEW for 2015: ASHG will set up a secure slide-sharing website for oral presentations. This is an opt-in policy for speakers who wish to share their slides. Slides will be available a few weeks after the meeting. 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.
INVITED AND PLATFORM SESSIONS
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Wednesday, October 7 2:30 PM–4:30 PM Concurrent Platform Session A
Wednesday, October 7 2:30 PM–4:30 PM Concurrent Platform Session A
16. Switching on to Regulatory Variation
17. Shedding Light into the Dark: From Lung Disease to Autoimmune Disease
Ballroom III, Level 4, Convention Center Moderators: Gosia Trynka, Sanger Inst, Hinxton, UK Yang Li, Stanford Univ 11/2:30 Integrative approaches for large-scale transcriptome-wide association studies. A. Gusev, A. Ko, H. Shi, G. Bhatia, W. Chung, B. W. J. H. Penninx, R. Jansen, E. J. C. de Geus, D. I. Boomsma, F. A. Wright, P. F. Sullivan, E. Nikkola, M. Alvarez, M. Civelek, A. J. Lusis, T. Lehtimaki, M. Kahonen, I. Seppala, O. T. Raitakari, J. Kuusisto, M. Laakso, A. L. Price, P. Pajukanta, B. Pasaniuc. 12/2:45 Improved identification of the genetic basis of disease by integrated analysis of RNA-seq together with whole-genome and exome-based sequencing data. D. W. Craig, S. Szelinger, A. M. Claasen, I. Schrauwen, R. F. Richholt, M. De Both, B. E. Hjelm, S. Rangasamy, A. L. Siniard, A. L. Courtright, M. J. Huentelman, V. Narayanan. 13/3:00 Comprehensive transcriptome analysis using synthetic long read sequencing reveals molecular co-association and conservation of distant splicing events. H. Tilgner, F. Jahanbani, M. Rasmussen, M. Snyder. 14/3:15 Comprehensive genome and transcriptome structural analysis of a breast cancer cell line using PacBio long read sequencing. M. Nattestad, K. Ng, S. Goodwin, T. Baslan, J. Gurtowski, F. Sedlazeck, E. Hutton, E. Tseng, J. Chin, T. Beck, Y. Sundaravadanam, M. Kramer, E. Antoniou, J. Hicks, M. Schatz, W. R. McCombie. 15/3:30 Tissue-specific transcriptome-wide networks reflect joint regulation of alternative splicing and gene expression. A. Saha, Y. Kim, D. Knowles, S. Mostafavi, A. Battle, The GTEx Consortium.
17/4:00 Detection of trans and cis splicing QTLs through large scale cancer genome analysis. K. Lehmann, A. Kahles, C. Kandoth, N. Schultz, O. Stegle, G. Rätsch. 18/4:15 The landscape of X inactivation across human tissues: From single cells to population sequencing. T. Tukiainen, A. Villani, M. Rivas, A. Kirby, D. DeLuca, R. Satija, A. Byrnes, J. Maller, T. Lappalainen, A. Regev, N. Hacohen, K. Ardlie, D. MacArthur, The GTEx Project Consortium.
19/2:30 The contribution of the cysteinyl leukotriene 1 (CysLT1) gene and other genetic loci to atopic asthma in the Tristan da Cunha population. M. D. Thompson, J. Stankova, M. Clunes, G. E. Rovati, D. E. Cole, M. C. Maj, V. Capra, D. L. Duffy. 20/2:45 Utilizing an African specific genotyping array for a large-scale GWAS for asthma in African Americans. H. R. Johnston, N. Rafaels, D. Hu, D. Torgerson, S. Chavan, J. Gao, G. Abecasis, M. Hansen, R. Mathias, Z. S. Qin, K. Barnes, Y. J. Hu, CAAPA Consortium. 21/3:00 Integration of genome-wide association data and human protein interaction networks identifies a gene sub-network underlying childhood-onset asthma. Y. Liu, M. Brossard, C. Sarnowski, P. Margaritte-Jeannin, F. Llinares, A. Vaysse, M. H. Dizier, E. Bouzigon, F. Demenais, and GABRIEL asthma consortium. 22/3:15 The utility of real world data for performing genetic target validation: TRPV4 and lung edema. D. Waterworth, L. Warren, M. Hurle, D. Behm, J. Pulley, E. Bowton, J. Denny, D. Sprecher, M. Ehm. 23/3:30 Quantifying heritability explained in inflammatory bowel disease using 18,000 GWAS and 9,000 next generation sequencing data. Y. Luo, K. de Lange, UK. IBD Genetics Consortium, C. A. Anderson, J. C. Barrett. 24/3:45 The X-factor of complex disease: Methods, software, and extensive application for studying the X chromosome in association studies. A. Keinan, on behalf of the XWAS Consortium. 25/4:00 Imputation of low-frequency variants identifies novel Alzheimer’s disease loci in the IGAP Consortium. K. Hamilton-Nelson, B. Grenier-Boley, B. W. Kunkle, M. Vronskaya, V. Chouraki, M. Butkiewics, S. V. Van der Lee, R. Sims, A. M. Toglehofer, J. Jakobsdottir, B. Dombroski, O. Valladeres, J. Bis, E. R. Martin, R. Mayeux, L. A. Farrer, C. Duijn, J. L. Haines, P. Holmans, J. C. Lambert, J. Williams, S. Seshadri, P. Amouyel, G. D. Schellenberg, M. Pericak-Vance, For The IGAP Consortium. 26/4:15 A new locus of genetic resistance to severe malaria is associated with a locus of ancient balancing selection. G. Band, on behalf of the MalariaGEN consortium.
NEW for 2015: ASHG will set up a secure slide-sharing website for oral presentations. This is an opt-in policy for speakers who wish to share their slides. Slides will be available a few weeks after the meeting. 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.
INVITED AND PLATFORM SESSIONS
16/3:45 Massively parallel quantification of the regulatory effects of non-coding variation reveals functional variants associated with fetal adiposity. C. Guo, C. M. Vockley, W. H. Majoros, M. Nodzenski, D. M. Scholtens, M. G. Hayes, W. L. Lowe, T. E. Reddy.
Room 307, Level 3, Convention Center Moderators: Martin Tobin, Univ Leicester, UK Tonu Esko, Children’s Hosp Boston
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INVITED AND PLATFORM SESSIONS
Wednesday, October 7 2:30 PM–4:30 PM Concurrent Platform Session A
Wednesday, October 7 2:30 PM–4:30 PM Concurrent Platform Session A
18. Addressing the Difficult Regions of the Genome
19. Statistical Genetics: Complex Phenotypes, Complex Solutions
Room 309, Level 3, Convention Center Moderators: Stephen Lincoln, Invitae, San Francisco Jennifer Lee, Greenwood Genet Ctr 27/2:30 Long read single-molecule real-time (SMRT) full gene sequencing of cytochrome P450 2D6 (CYP2D6). Y. Yang, W. Qiao, R. Sebra, G. Mendiratta, A. Gaedigk, R. Desnick, S. Scott. 28/2:45 An NGS-based carrier screen for congenital adrenal hyperplasia with 95% detection rate. D. Muzzey, M. R. Theilmann, K. M. D’Auria, H. H. Lai, C. S. Chu, I. S. Haque, E. A. Evans, H. P. Kang, J. R. Maguire. 29/3:00 Supplemental CNV analysis in NGS genepanel data in a diagnostic setting. J. J. Saris, R. van Minkelen, M. A. van Slegtenhorst, H. T. Brüggenwirth, L. H. Hoefsloot. 30/3:15 The application of the CNVSeq method for whole genome copy number variant detection. A. Tzika, P. Roberts, S. Hewitt, C. Watson, L. Crinnion, D. Bonthron. 31/3:30 Detection of relevant pharmacogenomic variants and CYP2D6 copy number using a highly multiplexed next generation sequencing assay. F. C. L. Hyland, M. Manivannan, S. C. Chen, T. Chen, T. Hartshorne, M. Anderson, G. Liu. 32/3:45 Next-generation sequencing-based genetic testing of autosomal dominant polycystic kidney disease. P. C. Wu, Y. H. Yang, T. W. Kao, J. W. Huang, T. S. Chu, P. L. Chen. 33/4:00 A method for detecting intragenic copy number changes of BRCA1 and BRCA2 using next-generation sequencing data. P. J. B. Sabatini, K. Chun. 34/4:15 DNA combing as a first-tier genetic testing for facioscapulohumeral dystrophy type 1: A cohort of 155 patients. J. Wang, F. Z. Boyar, X. J. Yang, B. H. Nguyen, V. Sulcova, P. Chan, Y. Liu, A. Anguiano, C. M. Strom.
Room 316, Level 3, Convention Center Moderators: Andrew DeWan, Yale Univ, New Haven Kristel Van Steen, Univ of Liege, Belgium 35/2:30 Pitfalls in development of statistical methods for rare variant association studies. G.T. Wang, D. Zhang, Z. He, D. Hang, B. Li, SM. Leal. 36/2:45 Ignoring pleiotropy bias in Mendelian randomization with polygene scores can easily lead to incorrect inferences about causality. C. M. Astley, M. Kals, T. Esko, J. N. Hirshhorn, K. Fischer. 37/3:00 Mendelian randomization provides evidence for a causal effect of low vitamin D on multiple sclerosis risk: Results from the Kaiser Permanente MS Research Program. B. Rhead, M. Gianfrancesco, A. Mok, X. Shao, H. Quach, L. Shen, A. Bernstein, C. Schaefer, L. F. Barcellos. 38/3:15 Contrasting regional architectures of schizophrenia and other complex diseases using fast variance components analysis. P. Loh, G. Bhatia, A. Gusev, H. K. Finucane, B. K. Bulik-Sullivan, S. J. Pollack, T. R. de Candia, S. H. Lee, N. R. Wray, K. S. Kendler, M. C. O’Donovan, B. M. Neale, N. Patterson, A. L. Price, Schizophrenia Working Group of the Psychiatric Genomics Consortium. 39/3:30 Multivariate analysis of whole exome sequence data identifies rare variants with pleiotropic effects on obesity-related metabolic traits in 31,000 participants of the Regeneron Genetics Center – Geisinger MyCode collaborative project – DiscovEHR. S. Mukherjee, C. O’Dushlaine, C. V. Hout, S. Bruse, J. B. Leader, D. N. Hartzel, J. Staples, S. Hamon, J. Overton, J. G. Reid, A. Baras, D. J. Carey, H. L. Kirchner, M. D. Ritchie, S. A. Pendergrass, M. Murray, D. H. Ledbetter, O. Gottesman, F. Dewey, A. R. Shuldiner. 40/3:45 Quantifying penetrance in a dominant disease gene using large population control cohorts. E. V. Minikel, S. M. Vallabh, M. Lek, K. O. Estrada, K. E. Samocha, J. F. Sathirapongsasuti, C. Y. McLean, J. Y. Tung, L. P. C. Yu, M. J. Daly, D. G. MacArthur, Exome Aggregation Consortium. 41/4:00 Evaluation of the regional variability of missense constraint in 60,000 exomes. K. E. Samocha, M. Lek, D. G. MacArthur, B. M. Neale, M. J. Daly, Exome Aggregation Consortium. 42/4:15 MARV: A novel method and software tool for genome-wide multi-phenotype analysis of rare variants. M. Kaakinen, R. Mägi, K. Fischer, M.-R. Järvelin, A. P. Morris, I. Prokopenko.
NEW for 2015: ASHG will set up a secure slide-sharing website for oral presentations. This is an opt-in policy for speakers who wish to share their slides. Slides will be available a few weeks after the meeting. 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.
INVITED AND PLATFORM SESSIONS
Wednesday, October 7 2:30 PM–4:30 PM Concurrent Platform Session A
Wednesday, October 7 2:30 PM–4:30 PM Concurrent Platform Session A
20. Think Globally, Act Locally: Copy Number Variation
21. Recent Advances in the Genetic Basis of Neuromuscular and Other Neurodegenerative Phenotypes
Room 318/321, Level 3, Convention Center Moderators: Patricia M. Miron, UMass Mem Med Ctr, Worcester Azra Ligon, Brigham and Women’s Hosp, Boston
43/2:30 Association of copy number variations with decreased cognitive phenotypes and fitness in unselected populations. A. Reymond, R. Magi, A. Mace, B. Cole, A. Guyatt, H. Shihab, A. Maillard, H. Alavere, A. Kolk, A. Reigo, E. Mihailov, L. Leitsalu, A. M. Ferreira, M. Nõukas, A. Teumer, E. Salvi, D. Cusi, M. McGue, W. G. Iacono, T. R. Gaunt, J. S. Beckmann, S. Jacquemont, Z. Kutalik, N. Pankratz, N. Timpson, A. Metspalu, K. Mannik. 44/2:45 The role of transcription in mammalian cell copy number variant formation. S. Park, M. F. Arlt, S. Rajendran, M. T. Paulsen, R. Beroukhim, M. Ljungman, T. E. Wilson, T. W. Glover. 45/3:00 Quantitative functional studies using Drosophila melanogaster identify dosage-sensitive and sex-specific effects of neurodevelopmental genes. J. S. Iyer, P. Patel, L. Pizzo, K. Vadodaria, Q. Wang, A. Kubina, S. Yennawar, R. Pandya, S. Girirajan. 46/3:15 Single-cell analysis reveals that endogenous retrotransposons generate somatic mosaicism in neuronal and non-neuronal cells. J. A. Erwin, A. C. Paquola, T. Singer, C. Quayle, T. Bedrosian, A. Muotri, R. Lasken, F. G. Gage. 47/3:30 Evolution and structural diversity of the complement factor H related gene cluster. S. Cantsilieris, L. Harshman, N. Janke, E. E. Eichler. 48/3:45 Repetitive DNA at CNV breakpoints is susceptible to gross chromosomal rearrangement. K. Rudd, K. E. Hermetz, Y. Nishida, Y. Zhang, N. Saini, K. S. Lobachev.
50/4:15 Paired-duplications mark cryptic inversions and are a common signature of complex structural variation that is misclassified by chromosomal microarray. H. Brand, R. L. Collins, C. Hanscom, J. A. Rosenfeld, V. Pillalamarri, M. R. Stone, F. Kelley, T. Mason, L. Margolin, S. Eggert, E. Mitchell, J. C. Hodge, J. F. Gusella, S. J. Sanders, M. E. Talkowski.
Holiday Ballroom 1, 2nd Floor, Hilton Baltimore Hotel Moderators: Megan Dennis, UC Davis Marina Kennerson, ANZAC Res Inst, Concord, Australia 51/2:30 RNA sequencing of a mouse model of spinal muscular atrophy reveals tissue-wide changes in splicing of U12-dependent introns in genes involved in cell cycle, intracellular trafficking, and neuronal function. T. K. Doktor, Y. Hua, H. S. Andersen, S. Brøner, A. R. Krainer, B. S. Andresen. 52/2:45 BAC transgenic model of C9ORF72 ALS/FTD. Y. Liu, A. Pattamatta, T. Zu, T. Reid, L. P. W. Ranum. 53/3:00 Altered RNA processing in ALS4. C. Grunseich, I. X. Wang, J. Watts, T. Lanman, G. Ramrattan, Z. Zhu, D. Bakar, A. B. Schindler, E. Hartnett, K. H. Fischbeck, V. G. Cheung. 54/3:15 A recurrent mutation in KCNA2 in complicated autosomal dominant spastic paraplegia: An expansion of the channelopathy spectrum and a novel disease mechanism. K. L. Helbig, U. B. S. Hedrich, A. C. Teichmann, J. Hentschel, D. N. Shinde, W. A. Alcaraz, S. Tang, C. Jungbluth, S. L. Dugan, R. Schäle, H. Lerche, J. R. Lemke. 55/3:30 Mouse resources for comparative Mendelian genomics. L. Reinholdt, H. Fairfield, A. Srivastava, R. Liu, A. Lakshminarayana, B. Harris, S. Karst, M. Berry, P. Ward-Bailey, C. Byers, A. Czechanski, W. Martin, K. Cheng, L. Goodwin, J. Morgan, D. Bergstrom. 56/3:45 Activation of the DNA damage response in an induced model of spinal muscular atrophy. M. Jangi, H. Li, X. Yang, P. Cullen, A. Thai, M. Liu, C. Fleet, C. F. Bennett, F. Rigo, A. R. Krainer, C. Roberts, N. Allaire, C. Sun, J. P. Carulli, J. F. Staropoli. 57/4:00 Recessive mutations in the UGO1-like protein SLC25A46 cause an optic atrophy. T. Huang, S. Zuchner, J. Dallman, V. Carelli, A. Abrams, R. Hufnagel, A. Rebelo, C. Zanna, N. Patel, M. Gonzalez, I. Campeanu, L. Griffin, S. Groenewald, A. Strickland, F. Tao, F. Speziani, L. Abreu, R. Schüle, L. Caporali, C. Morgia, A. Maresca, R. Liguori, R. Lodi, Z. Ahmed, K. Sund, X. Wang, L. Krueger, Y. Peng, C. Prada, C. Prows, K. Bove, E. K. Schorry, A. Antonellis, H. H. Zimmerman, O. A. Abdulrahma. 58/4:15 Neuronal aneuploidy and associated apoptosis in familial and sporadic frontotemporal lobar degeneration indicate that FTLD, like Alzheimer’s disease and Niemann-Pick C1, is a cell cycle disorder. H. Potter, J. Caneus, A. Granic, D. Dickson.
NEW for 2015: ASHG will set up a secure slide-sharing website for oral presentations. This is an opt-in policy for speakers who wish to share their slides. Slides will be available a few weeks after the meeting. 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.
INVITED AND PLATFORM SESSIONS
49/4:00 A potential role for the linker for activation of T-cells (LAT) in the neuroanatomical phenotype of the 16p11.2 BP2-BP3 CNVs. M. N. Loviglio, M. Leleu, T. Arbogast, K. Mannik, G. Giannuzzi, J. Beckmann, J. Rougemont, S. Jacquemont, N. Katsanis, C. Golzio, A. Reymond, 16p11.2 Consortium.
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Wednesday, October 7 2:30 PM–4:30 PM Concurrent Platform Session A 22. Neuropsychiatric Diseases of Childhood
Holiday Ballroom 4, 2nd Floor, Hilton Baltimore Hotel Moderators: Peristera Paschou, Democritus Univ Thrace, Alexandroupoli, Greece Jennifer Mulle, Emory Univ, Atlanta 59/2:30 Results from the largest GWAS of autism spectrum disorder to date. J. Grove, The iPSYCHSSI-Broad/MGH collaboration and Psychiatric Genomics Consortium Autism Working Group. 60/2:45 De novo likely gene disrupting mutations and genic copy number variants increase the risk for Tourette’s Disorder. T. V. Fernandez, R. A. King, J. Xing, A. J. Willsey, A. Dietrich, J. A. Tischfield, G. A. Heiman, M. W. State, The TIC Genetics Collaborative Group. 61/3:00 Rare copy number variants implicate neuronal cell adhesion molecules in Tourette Syndrome. A. Huang, D. Yu, L. Davis, C. Mathews, P. Paschou, N. Freimer, J. Scharf, G. Coppola, TSA International Consortium for Genomics, and the GTS GWAS Replication Initiative. 62/3:15 Whole exome sequencing with simultaneous analysis of both parents has a high diagnostic yield for patients with epilepsy and neurodevelopmental disorders. M. Stosser, T. Brandt, K. Retterer, J. Juusola, G. Richard, S. Suchy, D. McKnight. 63/3:30 Gene discovery and high-throughput resequencing of candidate genes in epileptic encephalopathies. C. T. Myers, J. M. McMahon, A. Schneider, R. K. Møller, G. L. Carvill, I. E. Scheffer, H. C. Mefford, Epi4K Consortium. 64/3:45 Loss-of-function mutations in SLC12A5 encoding the potassium-chloride co-transporter KCC2 in epilepsy of infancy with migrating focal seizures. T. Stödberg, A. McTague, A. Ruiz, H. Hirata, J. Zhen, P. Long, I. Farabella, E. Meyer, A. Kawahara, G. Vassallo, S. Stivaros, M. Bjursell, H. Stranneheim, S. Tigerschiöld, B. Persson, I. Bangash, K. Das, D. Hughes, N. Lesko, J. Lundeberg, R. Scott, A. Poduri, I. Scheffer, H. Smith, P. Gissen, S. Schorge, M. Reith, M. Topf, D. Kullmann, R. Harvey, A. Wedell. 65/4:00 Functional analysis of GRIN2A mutations in childhood epileptic encephalopathies. L. Addis, L. R. Vidler, D. A. Collier, D. K. Pal, D. Ursu. 66/4:15 Hyperexcitability of neurons and cardiomyocytes in a mouse model of SCN8A epileptic encephalopathy. J. L. Wagnon, C. R. Frasier, L. F. Lopez-Santiago, Y. Yuan, J. Hull, Y. Bao, M. H. Meisler. NEW for 2015: ASHG will set up a secure slide-sharing website for oral presentations. This is an opt-in policy for speakers who wish to share their slides. Slides will be available a few weeks after the meeting. 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.
INVITED AND PLATFORM SESSIONS
Thursday, October 8 9:00 AM–10:30 AM 23. Distinguished Speakers Symposium: The Art and Science of Science Communication Hall F, Level 1, Convention Center Moderator: Chris Gunter, ASHG 2015 Program Chair
In 2015, doing great science is often not enough. We need to be able to effectively communicate our scientific processes and findings to multiple audiences in order to win funding and public support. This symposium features three trailblazers in science communication, working through multiple media sources to engage people with the exciting and challenging stories of human genetics. Our speakers will be Ed Yong, one of the best science journalists working today and author of the blog “Not Exactly Rocket Science”; Liz Neeley, executive director of The Story Collider and architect of science outreach strategies based on public engagement data; and Andrea Downing, patient and data sharing advocate and creator of an online community around BRCA findings. 9:00 AM Introduction. C. Gunter. Marcus Autism Ctr, Emory Univ Sch of Med, Children’s Healthcare of Atlanta. 9:10 AM “Nobody has to read this crap”, or Why science journalism is not science communication and why that matters. E. Yong. Science Writer. 9:35 AM The stories we tell ourselves about science communication. L. Neeley. The Story Collider. 10:00 AM ePatients and the power of a connected community. A. Downing. Advocate and Writer.
Thursday, October 8 2:30 PM–4:30 PM Concurrent Platform Session B 24. Going All In: Experimental Characterization of Complex Trait Loci
Ballroom I, Level 4, Convention Center Moderators: Casey Brown, Univ Penn, Philadelphia Barbara Stranger, Univ Chicago 67/2:30 Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing glaucomarelated endophenotypes. A. Iglesias Gonzalez, H. Springelkamp, A. Mishra, T. Aung, C.-Y. Cheng, J. E. Craig, C. J. Hammond, M. Hauser, A. W. Hewitt, R. Höhn, C. C. W. Klaver, A. J. Lotery, D. A. Mackey, L. R. Pasquale, N. Pfeiffer, A. C. Viswanathan, J. L. Wiggs, T.-Y. Wong, C. M. van Duijn, S. MacGregor, International Glaucoma Genet Consortium. 68/2:45 The genomic region harboring the type 2 diabetes presumed causal variant within TCF7L2 forms long-range functional connections with ACSL5. M. E. Johnson, Q. Xia, A. Chesi, B. T. Johnston, S. Lu, E. F. Rappaport, P. Huang, A. D. Wells, G. A. Blobel, S. F. A. Grant. 69/3:00 Genome-wide association studies identify RAB38 and HS6ST1 associated with albuminuria in diabetes. A. Teumer, on behalf of the CKDGen Consortium. 70/3:15 Chromosome interaction analysis of risk loci in related autoimmune diseases reveals complex, long-range promoter interactions implicating novel candidate genes. P. Martin, A. McGovern, G. Orozco, K. Duffus, A. Yarwood, S. Schoenfelder, N. Cooper, A. Barton, C. Wallace, P. Fraser, J. Worthington, S. Eyre. 71/3:30 A rare A2ML1 variant confers susceptibility to otitis media and causes changes in the middle ear microbiome. R. L. P. Santos-Cortez, C. M. Chiong, M. R. T. Reyes-Quintos, M. L. C. Tantoco, X. Wang, A. Acharya, I. Abbe, A. P. Giese, J. D. Smith, E. K. Allen, B. Li, E. M. Cutiongco-de la Paz, M. C. Garcia, E. G. D. V. Llanes, P. J. Labra, N. J. Ajami, J. F. Petrosino, G. T. Wang, K. A. Daly, J. Shendure, M. J. Bamshad, D. A. Nickerson, J. A. Patel, S. Riazuddin, M. M. Sale, T. Chonmaitree, Z. M. Ahmed, G. T. Abes, S. M. Leal, University of Washington Ctr for Mendelian Genomics. 72/3:45 Systems genetics approach unravels the molecular mechanisms underlying lung function variation and uncovers novel therapeutic targets for COPD. M. Obeidat, Y. Nie, K. Hao, Y. Bossé, M. Laviolette, D. Nickle, D. Postma, W. Timens, S. Gharib, L. Wain, M. Artigas, M. Tobin, I. Hall, S. London, D. Sin, P. Paré, SpiroMeta, CHARGE and Lung eQTL Consortia.
NEW for 2015: ASHG will set up a secure slide-sharing website for oral presentations. This is an opt-in policy for speakers who wish to share their slides. Slides will be available a few weeks after the meeting. 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.
INVITED AND PLATFORM SESSIONS
Coffee break begins at 10:30 am in the Exhibit Hall followed by Poster Sessions from 11:00 am - 1:00 pm.
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Thursday, October 8 2:30 PM–4:30 PM (SESSION 24, continued)
Thursday, October 8 2:30 PM–4:30 PM Concurrent Platform Session B
73/4:00 Fine-mapping and molecular assays identify multiple functional variants at the ANGPTL8 HDL-C GWAS locus. M. E. Cannon, C. K. Raulerson, Q. Duan, Y. Wu, A. Ko, P. Pajukanta, M. Laakso, Y. Li, K. L. Mohlke.
25. Powering Up Complex Trait Genetics
74/4:15 Functional analyses of type 2 diabetesassociated loci provides mechanistic insight into genetic susceptibility. E. A. O’Hare, L. M. YergesArmstrong, J. A. Perry, A. R. Shuldiner, N. A. Zaghloul.
Ballroom III, Level 4, Convention Center Moderators: Barbara Engelhardt, Princeton Univ Benjamin Neale, Broad Inst, Cambridge 75/2:30 Integrative tissue-specific functional annotations in the human genome provide novel insights on many complex traits and improve replication rates in genome wide association studies. Q. Lu, R. Powles, Q. Wang, J. He, H. Zhao. 76/2:45 A general analytical framework to identify pathogenic genes underlying complex diseases. P. Shooshtari, C. Cotsapas. 77/3:00 metaCCA: Summary statistics-based multivariate meta-analysis of genome-wide association studies using canonical correlation analysis. A. Cichonska, J. Rousu, P. Marttinen, A. J. Kangas, P. Soininen, T. Lehtimäki, O. T. Raitakari, M. R. Järvelin, V. Salomaa, M. Ala-Korpela, S. Ripatti, M. Pirinen. 78/3:15 A systematic analysis of differential pathway architectures in diverse functional genomics networks for large-scale prediction of pathways from GWAS and exome-sequencing projects. J. D. Mercer, S. Rosenbluh, A. Liberzon, J. Grabarek, D. Thompson, T. Eisenhaure, S. Carr, J. Jaffe, J. Boehm, A. Tsherniak, A. Subramanian, R. Narayan, T. Natoli, T. Liefeld, B. Wong, J. Bistline, T. Li, S. Calvo, Y. Li, J. Mesirov, N. Hacohen, A. Regev, K. Lage. 79/3:30 Identifying genetically-driven clinical phenotypes using linear mixed models. J. D. Mosley, J. S. Witte, S. J. Hebbring, E. K. Larkin, L. Bastarache, C. M. Shaffer, J. H. Karnes, C. M. Stein, J. C. Denny, D. M. Roden. 80/3:45 Genetic validation and application of pathway-based annotation for unknown signals in untargeted metabolomics. Y. H. Hsu, T. Esko, T. H. Pers, A. Metspalu, J. N. Hirschhorn. 81/4:00 Quantifying uncertainty in heritability estimation using linear mixed models. R. Schweiger, E. Halperin. 82/4:15 Genotype imputation with millions of reference samples. B. L. Browning, S. R. Browning.
NEW for 2015: ASHG will set up a secure slide-sharing website for oral presentations. This is an opt-in policy for speakers who wish to share their slides. Slides will be available a few weeks after the meeting. 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.
INVITED AND PLATFORM SESSIONS
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Thursday, October 8 2:30 PM–4:30 PM Concurrent Platform Session B 26. Hereditary Cancer Genes: Old and New
Room 307, Level 3, Convention Center Moderators: Angela Brooks-Wilson, Canada’s Michael Smith Genome Sci Ctr, Vancouver, Canada Douglas Stewart, NCI/NIH, Rockville 83/2:30 Germline mutations in cancerpredisposition genes in 1,120 children with cancer: A report from the Pediatric Cancer Genome Project. J. Zhang, M. Walsh, G. Wu, M. Edmonson, T. Gruber, J. Easton, D. Hedges, X. Ma, X. Zhou, D. Yergeau, M. Wilkinson, B. Vandor, X. Chen, R. McGee, S. Hines-Dowell, R. Nuccio, E. Quinn, S. Shurtleff, M. Rusch, J. Becksfort, M. Weaver, L. Ding, E. Mardis, R. Wilson, C.-H. Pui, A. Gajjar, D. Ellison, A. Pappo, K. Nichols, J. Downing, St. Jude/Washington Univ Pediatric Cancer Genome Project.
89/4:00 Germline and somatic inactivating SMARCA4 mutations in small cell carcinoma of the ovary, hypercalcemic type (SCCOHT): Diagnostic and therapeutic implications. W. P. D. Hendricks, P. Ramos, H. Yin, A. N. Karnezis, Y. Wang, M. L. Russell, D. W. Craig, V. L. Zismann, A. Sekulic, B. E. Weissman, D. G. Huntsman, J. M. Trent. 90/4:15 Common variants in MMP20 at 11q22.2 predispose to 11q deletion and impact neuroblastoma risk. X. Chang, L. McDaniel, C. Hou, M. Diamond, K. Thomas, J. Li, Y. Guo, F. Mentch, H. Qiu, C. Kim, S. Diskin, P. Sleiman, E. Attiyeh, J. Maris, H. Hakonarson.
84/2:45 Germline variants among unselected patients enrolled in a tumor/normal cancer genomic sequencing project identifies a high percentage with inherited risk. V. M. Raymond, J. N. Everett, E. M. Stoffel, J. W. Innis, Y. M. Wu, D. R. Robinson, P. Vats, R. J. Lonigro, R. Mody, A. M. Chinnaiyan. 85/3:00 Somatic TP53 mutations detected in germline testing: The importance of phenotypic correlation in cancer predisposition testing. J. N. Weitzel, K. R. Blazer, H. LaDuca, B. Nehoray, T. Slavin, T. Pesaran, C. Rybak, I. Solomon, M. Neil-Swiller, E. Chao. 86/3:15 ChIP-Seq analysis of lymphocytes from Li-Fraumeni patients reveals the drastic impact on p53 DNA binding of heterozygous TP53 mutations associated with early-onset cancers. T. Frebourg, Y. Zerdoumi, R. Lanos, A. Bouzelfen, F. Charbonnier, G. Bougeard, J.-M. Flaman.
88/3:45 A parent-of-origin effect impacts the phenotype in low penetrance retinoblastoma families segregating the p.Arg661Trp mutation of RB1. C. Houdayer, P. Eloy, C. Dehainault, M. Sefta, I. Aerts, L. Lumbroso le Rouic, D. Stoppa Lyonnet, F. Radvanyi, G. Millot, M. Gauthier Villars.
NEW for 2015: ASHG will set up a secure slide-sharing website for oral presentations. This is an opt-in policy for speakers who wish to share their slides. Slides will be available a few weeks after the meeting. 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.
INVITED AND PLATFORM SESSIONS
87/3:30 Tumour risks and genotype-phenotypeproteotype analysis of 800 patients with germline mutations in the succinate dehydrogenase subunit genes SDHB, SDHC, and SDHD. E. R. Maher, K. A. Andrews, L. Vialard, D. B. Ascher, D. E. V. Pires, N. Bradshaw, T. Cole, F. Lalloo, M. McConachie, P. J. Morrison, V. Murday, S. M. Park, Y. Wallis, D. Goudie, R. S. Lindsay, C. G. Perry, L. Izatt, E. R. Woodward, SDH-UK Consortium.
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Thursday, October 8 2:30 PM–4:30 PM Concurrent Platform Session B
Thursday, October 8 2:30 PM–4:30 PM Concurrent Platform Session B
27. Advances in Epigenetics: What Would Waddington Say?
28. Adult-onset Neuropsychiatric Disease
Room 309, Level 3, Convention Center Moderators: Reid Alisch, Univ Wisconsin, Madison Terry Furey, UNC Chapel Hill
91/2:30 Epigenetic and transcriptional dysregulation of oxytocin receptor (Oxtr) in Tet1 methylcytosine dioxygenase deficient mouse brain. A. J. Towers, X. L. Li, A. L. Bey, P. Wang, S. K. Siecinski, S. Xu, X. Cao, L. J. Duffney, Y. H. Jiang. 92/2:45 GWAS meta-analysis identifies susceptibility loci for epigenetic age acceleration in human cerebellum. A. Lu, E. Hannon, M. Levine, K. Hao, E. Crimmins, A. Kozlenkov, K. Lunnon, J. Miller, S. Dracheva, S. Horvath. 93/3:00 Methylomic aging as a window on lifestyle impact: Tobacco and alcohol alter the rate of biological aging. M. V. Dogan, S. R. H. Beach, M. K. Lei, C. E. Cutrona, M. Gerrard, F. X. Gibbons, R. L. Simons, G. H. Brody, R. A. Philibert. 94/3:15 A survey of DNA methylation polymorphism in the human genome identifies environmentally responsive co-regulated networks of epigenetic variation. R. Joshi, P. Garg, C. Watson, A. Sharp. 95/3:30 A novel predictive model of sexual orientation using epigenetic markers. T. C. Ngun, W. Guo, N. M. Ghahramani, K. Purkayastha, D. Conn, F. J. Sanchez, S. Bocklandt, M. Zhang, C. M. Ramirez, M. Pellegrini, E. Vilain. 96/3:45 RNF12 is essential for X-inactivation in female mouse embryonic stem cells, is required for female mouse development, and might be a target for future therapies to treat X-linked disorders in females: Evidence from a mouse knockout model. S. Barakat, J. Gribnau. 97/4:00 Deep learning the relationship between chromatin architecture, chromatin state, and transcription factor binding. A. Kundaje, C. S. Foo, J. Israeli, A. Shrikumar, J. Buenrostro, A. Schep, W. Greenleaf. 98/4:15 Inter-planetary systems biology reveals differences in twin astronauts at the genetic, epigenetic, transcriptional, and epitranscriptomic levels. C. Mason.
Room 316, Level 3, Convention Center Moderators: Dan Arking, Johns Hopkins, Baltimore Nora Urraca, Le Bonheur Children’s Hosp, Memphis 99/2:30 Vitamin D and risk of multiple sclerosis: A Mendelian randomization study. L. E. Mokry, S. Ross, O. S. Ahmad, V. Forgetta, G. Davey Smith, A. Leong, C. M. T. Greenwood, J. B. Richards. 100/2:45 Genome-wide interaction study of Parkinson disease and vitamin D deficiency implicates immune system pathways. W. K. Scott, L. Maldonado, G. W. Beecham, E. R. Martin, M. L. Evatt, J. C. Ritchie, J. L. Haines, C. P. Zabetian, H. Payami, M. A. Pericak-Vance, J. M. Vance, L. Wang. 101/3:00 DNAJC6 mutations associated with early-onset Parkinson’s disease. S. Olgiati, M. Quadri, M. Fang, J. P. M. A. Rood, J. A. Saute, H. F. Chien, C. G. Bouwkamp, J. Graafland, M. Minneboo, G. J. Breedveld, J. Zhang, F. W. Verheijen, W. Mandemakers, A. J. W. Boon, J. A. Kievit, L. B. Jardim, E. R. Barbosa, C. R. M. Rieder, K. L. Leenders, J. Wang, V. Bonifati. 102/3:15 A novel protein aggregation mechanism triggered by translation of cryptic amyloidogenic elements in the 3’ UTR of neurofilament genes. A. Rebelo, A. Abrams, E. Cottienne, A. Horga, M. Gonzalez, A. Sanchez-Mejias, L. Matilde, H. Houlden, J. Blake, C. Woodward, M. Sweeney, J. Holton, M. Hanna, J. Dallman, M. Auer-Grumbach, M. Reilly, S. Zuchner. 103/3:30 Identification of a founder mutation in ABCA7 in a Belgian cohort of Alzheimer’s disease patients. K. Sleegers, E. Cuyvers, T. Van den Bossche, A. De Roeck, C. Van Cauwenberghe, S. Vermeulen, M. Mattheijssens, K. Peeters, S. Engelborghs, M. Vandenbulcke, R. Vandenberghe, P. P. De Deyn, C. Van Broeckhoven, BELNEU Consortium. 104/3:45 SORL1 rare variants: A major risk factor for familial early onset Alzheimer disease. G. Nicolas, C. Charbonnier, D. Wallon, O. Quenez, C. Bellenguez, B. Grenier-Boley, S. Rousseau, A.-C. Richard, A. Rovelet-Lecrux, K. Le Guennec, D. Bacq, J.-G. Garnier, R. Olaso, A. Boland, V. Meyer, J.-F. Deleuze, P. Amouyel, H.-H. Munter, G. Bourque, M. Lathrop, T. Frebourg, R. Redon, L. Letenneur, J.-F. Dartigues, E. Génin, J.-C. Lambert, D. Hannequin, D. Campion.
NEW for 2015: ASHG will set up a secure slide-sharing website for oral presentations. This is an opt-in policy for speakers who wish to share their slides. Slides will be available a few weeks after the meeting. 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.
INVITED AND PLATFORM SESSIONS
Thursday, October 8 2:30 PM–4:30 PM (SESSION 28, continued)
Thursday, October 8 2:30 PM–4:30 PM Concurrent Platform Session B
105/4:00 Loss-of-function mutations in TBK1 are a frequent cause of frontotemporal dementia and amyotrophic lateral sclerosis in Belgian and European cohorts. C. Van Broeckhoven, I. Gijselinck, S. Van Mossevelde, J. van der Zee, A. Sieben, B. Heeman, S. Engelborghs, M. Vandenbulcke, R. Vandenberghe, P. De Jonghe, P. Cras, P. De Deyn, J.-J. Martin, M. Cruts, BELNEU Consortium, EU EOD Consortium.
29. The Ever-Changing Chromosome
106/4:15 The C9orf72 repeat expansion modulates onset age of FTD-ALS through increased DNA methylation and transcriptional downregulation. M. Cruts, I. Gijselinck, S. Van Mossevelde, J. van der Zee, A. Sieben, S. Engelborghs, J. De Bleecker, A. Ivanoiu, O. Deryck, D. Edbauer, M. Zhang, B. Heeman, E. Rogaeva, P. De Jonghe, P. Cras, J.-J. Martin, P. P. De Deyn, C. Van Broeckhoven, BELNEU Consortium.
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Room 318/321, Level 3, Convention Center Moderators: Natalia Leach, Integrated Genetics/Lab Corp, Westborough Athena Cherry, Stanford Univ 107/2:30 Missed connections: Failure to recombine is a common feature of human oogenesis. T. Hassold, H. Maylor-Hagen, J. Gruhn, P. Hunt. 108/2:45 An isogenic trisomic-disomic model system using cells from people with mosaic Down syndrome unmasks trisomy 21 associated increases in age-related chromosomal instability and telomere shortening. K. Rafferty, C. Charalsawadi, C. Jackson-Cook. 109/3:00 Runs of homozygosity (ROH) reveal correction of chromosomal imbalances during fetal development. A. L. Penton, D. Segal, R. Burnside, P. Papenhausen. 110/3:15 Genomic imbalances in fetuses and patients with congenital heart malformation. I. Maya, S. Kahana, T. Tenne, S. Jakobson, J. Yeshaya, M. Shohat, L. Basel-Vanagaite. 111/3:30 The role of copy number losses in nonsyndromic cleft lip and palate. L. A. Harney, B. W. Darbro, A. Long, J. Standley, R. A. Cornell, J. C. Murray, J. R. Manak. 112/3:45 Interchromosomal core duplicons drive recurrent complex inversions within the chromosome 8p23.1 region. K. Mohajeri, C. D. Campbell, J. Huddleston, B. Nelson, C. R. Catacchio, M. Ventura, E. E. Eichler. 113/4:00 Characterization of mosaic chromothripsis in the human germline by chromosomal microarray and whole genome sequencing. F. Quintero-Rivera, C. Redin, N. Dorrani, J. A. Martinez-Agosto, M. E. Talkowski.
NEW for 2015: ASHG will set up a secure slide-sharing website for oral presentations. This is an opt-in policy for speakers who wish to share their slides. Slides will be available a few weeks after the meeting. 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.
INVITED AND PLATFORM SESSIONS
114/4:15 Mechanistic insights of complex insertional translocations. S. Gu, C. M. B. Carvalho, B. Yuan, W. Bi, A. Patel, S. W. Cheung, J. R. Lupski.
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INVITED AND PLATFORM SESSIONS
Thursday, October 8 2:30 PM–4:30 PM Concurrent Platform Session B 30. Connecting the Dots: Hard and Soft Tissue Syndromes
121/4:00 Cbx3 and its role in craniofacial development: Zebrafish as a model system for testing dysmorphology candidate genes. H. E. Edelman, C. Woods, J. E. Hoover-Fong, A. S. McCallion.
115/2:30 Pathogenesis, risk stratification, and management of pregnancy-associated aortic dissection in Marfan syndrome and related connective tissue disorders. M. L. Russo, G. L. MacCarrick, E. Sparks, H. C. Dietz, J. P. Habashi.
122/4:15 Cerebro-costo-mandibular syndrome revisited: Phenotype and outcome of twenty molecularly confirmed individuals. D. C. Lynch, M. Tooley, E. J. Bhoj, E. G. Lemire, B. N. Chodirker, J. P. Taylor, D. K. Grange, E. H. Zackai, E. P. Kirk, J. HooverFong, L. Fleming, R. Savarirayan, S. F. Smithson, A. M. Innes, J. S. Parboosingh, F. P. Bernier.
Holiday Ballroom 1, 2nd Floor, Hilton Baltimore Hotel Moderators: Anne Slarotinek, UCSF Nathaniel Robin, Univ Alabama Birmingham
116/2:45 Williams-Beuren syndrome as an epigenetic disease: Association of GTF2IRD1 with chromatin silencing complexes. P. Carmona-Mora, F. Tomasetig, C. P. Canales, A. Alshawaf, M. Dottori, J. I. Young, R. Barres, E. C. Hardeman, S. J. Palmer. 117/3:00 Pseudoxanthoma elasticum: Expanding ABCC6 mutation database and pathogenicity test of missense mutations by zebrafish mRNA rescue. S. Raftari, H. Vahidnezhad, L. Youssefian, A. Mirzaei, M. Daneshpazhouh, M. Salehi, H. R. Mahmoudi, Q. Li, J. Uitto. 118/3:15 Comparison of phenotypic features associated with TGFBR1 and TGFBR2 mutations: Results of the Montalcino Aortic Consortium. G. Jondeau, J. Ropers, E. Regalado, A. Braverman, A. Evangelista, G. Teixedo, J. De Backer, L. Muino Mosquera, S. Naudion, C. Zordan, T. Morisaki, H. Morisaki, Y. Von Kodolitsch, S. Dupuis-Girod, S. A. Morris, R. Jeremy, S. Odent, M. Langeois, M. Spentchian, M. Aubart, C. Boileau, R. Pyeritz, D. Milewicz, Montalcino Aortic Consortium. 119/3:30 Variations in non-coding regions of TGFβ3, CDH2, and IRF6, affecting their expression, show association with cleft lip and palate (CL±P). P. Kumari, S. K. Singh, R. Raman. 120/3:45 Natural history of dermatan 4-O-sulfotransferase 1 (D4ST1)-deficient EhlersDanlos Syndrome (DDEDS): From an international collaborative clinical study by the International Consortium for EDS. T. Kosho, D. Syx, T. Van Damme, H. Morisaki, H. Kawame, T. Sonoda, Y. Hilhorst-Hofstee, A. Maugeri, N. Voermans, R. Mendoza-Londono, K. Wierenga, P. Jayakar, K. Ishikawa, T. Kobayashi, Y. Aoki, S. Watanabe, T. Ohura, M. Kono, K. Mochida, T. Morisaki, N. Miyake, M. Malfait.
NEW for 2015: ASHG will set up a secure slide-sharing website for oral presentations. This is an opt-in policy for speakers who wish to share their slides. Slides will be available a few weeks after the meeting. 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.
INVITED AND PLATFORM SESSIONS
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Thursday, October 8 2:30 PM–4:30 PM Concurrent Platform Session B
Thursday, October 8 5:00 PM–7:00 PM Concurrent Platform Session C
31. Genetics/Genomics Education: From Pupils to Parents
32. Human-wide Association Studies: More Genotypes, More Phenotypes, More Diverse Populations
123/2:30 Development of the GLASS: Genetics Literacy Assessment for Secondary Schools. R. J. Okamura, S. S. Lee, B. Bowling, K. E. Ormond.
131/5:00 Phenome-wide association study provides biologic insights into the etiology of age-related macular degeneration. M. Brilliant, J. Mayer, J. Liu, W. Lee, B. Hoch, S. Schrodi, J. Joyce, A. Ikeda, S. Hebbring.
Holiday Ballroom 4, 2nd Floor, Hilton Baltimore Hotel Moderators: Arti Pandya, UNC Chapel Hill Karen Weissbecker-Reimer, Tulane Univ, New Orleans
124/2:45 New tool for measuring genetic variation knowledge among health professionals. K. Abdallah, M. Moss, J. Jenkins, K. Calzone, S. Sellers, V. Bonham. 125/3:00 Knowledge and attitudes of medical residents and fellows working in various hospitals of the United States of America, on genetic testing for disease specific biomarkers and knowledge of precision medicine. S. Ghavimi, H. Azimi, P. Sealy. 126/3:15 Evolution from expository to open inquiry learning to improve genetic literacy. T. C. Tatum Parker, D. Karge-Galik. 127/3:30 Evaluation of a web-based decision aid for people considering the APOE genetic test for Alzheimer’s risk. D. T. Zallen, M. Ekstract, G. I. Holtzman, K. Y. Kim, S. M. Willis. 128/3:45 Introduction of population based NGS expanded carrier screening in the Netherlands. K. M. Abbott, M. Viel, M. Veldhuis, M. Plantinga, T. Dijkhuizen, J. Schuurmans, I. van Langen, R. Sinke. 129/4:00 Preconception genome sequencing and patient choice: The psychosocial impact of adverse results. T. L. Kauffman, M. Gilmore, P. Himes, E. Morris, Y. Akkari, L. Amendola, J. Davis, M. O. Dorschner, G. Jarvik, M. Leo, C. McMullen, D. Nickerson, C. Pak, S. Punj, J. A. Reiss, J. Schneider, C. S. Richards, D. K. Simpson, A. L. Rope, P. Robertson, B. Wilfond, K. A. B. Goddard, CSER consortium and NextGen study team.
132/5:15 Complex diseases are associated with variation in Mendelian genes: A phenome-wide study using Human Phenotype Ontology and a population genotyped on the Exome BeadChip. L. A. Bastarache, J. Mosely, T. Edwards, R. Carroll, H. Mo, L. Wiley, W. Wei, J. Denny. 133/5:30 PheWAS study using research participants’ self-reported data provides insight into Th17/IL-17 pathway. M. G. Ehm, J. L. Aponte, S. F. Cook, S. Ghosh, A. Gupta, D. A. Hinds, C. G. Lariminie, L. Li, T. Johnson, C. Tian, S. C. Zelt, D. Rajpal, D. M. Waterworth. 134/5:45 Functional variant PheWAS in 30,000 exomes using EHR-extracted laboratory measures in the Geisinger Health System MyCode Regeneron Genetics Center Collabrative Project DiscovEHR. A. Verma, J. Leader, S. Dudek, J. R. Wallace, C. Dushlaine, C. Van Hout, L. Haebagger, A. Lopex, F. E. Dewey, O. Gottesman, J. Overton, J. G. Reid, A. Baras, A. R. Shuldiner, D. J. Carey, J. L. Kirchner, D. H. Ledbetter, M. D. Ritchie, S. A. Pendergrass. 135/6:00 Exome-wide study identifies loci displaying pleiotropic associations with multiple cardiometabolic traits in continental Africans. F. Tekola-Ayele, A. Adeyemo, A. R. Bentley, A. P. Doumatey, J. Zhou, G. Chen, D. Shriner, C. Adebamowo, J. Achaempong, J. Oli, O. Fasanmade, T. Johnson, A. Amoah, K. Agyenim-Boateng, B. A. Eghan Jr., D. Ngare, C. N. Rotimi. 136/6:15 Trans-ethnic meta-analysis reveals novel loci and effector genes for kidney function in diverse populations. A. Morris, A. Mahajan, J. Haessler, Y. Okada, A. Stilp, J. Whitfield, C. Laurie, N. Franceschini.
NEW for 2015: ASHG will set up a secure slide-sharing website for oral presentations. This is an opt-in policy for speakers who wish to share their slides. Slides will be available a few weeks after the meeting. 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.
INVITED AND PLATFORM SESSIONS
130/4:15 Economic impact of genome sequencing for preconception carrier screening: The time costs for genetic counseling. P. Himes, F. L. Lynch, M. J. Gilmore, E. M. Morris, J. A. Reiss, T. L. Kauffman, C. McMullen, J. V. Davis, M. C. Leo, J. L. Schneider, K. A. B. Goddard, B. Wilfond.
Ballroom I, Level 4, Convention Center Moderators: Ron Do, Icahn Sch of Med, New York Mariaelisa Graff, UNC Chapel Hill
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INVITED AND PLATFORM SESSIONS
Thursday, October 8 5:00 PM–7:00 PM (SESSION 32, continued)
Thursday, October 8 5:00 PM–7:00 PM Concurrent Platform Session C
137/6:30 How low can you go: Cohort-wide 1x whole genome sequencing in a Greek isolate reveals multiple quantitative trait signals. A. Gilly, L. Southam, R. Moore, A.-E. Farmaki, J. Schwartzentruber, P. Danecek, E. Tsafantakis, G. Dedoussis, E. Zeggini.
33. Decoding Variants in Coding Regions
138/6:45 Whole genome sequencing increase the power to detect trait-associated rare variants shifted towards high frequencies in the Sardinian island population. C. Sidore, M. Zoledziewska, F. Danjou, F. Busonero, A. Maschio, E. Porcu, A. Mulas, C. Chiang, G. Pistis, M. Steri, S. Naitza, M. Pitzalis, J. Marcus, R. Nagaraja, A. Angius, J. Novembre, S. Sanna, D. Schlessinger, G. Abecasis, F. Cucca.
Ballroom III, Level 4, Convention Center Moderators: Shamil Sunyaev, Brigham & Women’s Hosp, Boston Kym Boycott, Children’s Hospital of Eastern Ontario, Univ Toronto, Ottawa, Canada 139/5:00 Phased annotation of protein-coding variants across 60,706 human exomes. A. J. Hill, B. Cummings, K. J. Karczewski, M. Lek, D. G. MacArthur, Exome Aggregation Consortium (ExAC). 140/5:15 Meta-analysis of more than 2,100 trios reveals novel genes for intellectual disability. C. Gilissen, S. H. Lelieveld, M. R. F. Reijnders, R. Pfiundt, H. Yntema, P. de Vries, B. A. de Vries, T. Kleefstra, M. Nelen, J. A. Veltman, H. G. Brunner, C. Vissers. 141/5:30 Assessing the pathogenicity of insertion and deletion variants with the Variant Effect Scoring Tool. C. Douville, D. L. Masica, P. D. Stenson, D. N. Cooper, D. Gygax, R. Kim, M. Ryan, R. Karchin. 142/5:45 Deep genetic connection between cancer and developmental diseases. H. Qi, C. Dong, K. Wang, Y. Shen. 143/6:00 Characterizing ribosome readthrough in humans. J. Moore, Z. Weng. 144/6:15 A comprehensive methodology for assessing variant-specific gene dysfunction in the context of non-disease-associated genomes. M. J. Silver, J. L. Larson, A. J. Silver, C. Borroto, B. Spurrier, R. M. Lim, N. Delaney, L. M. Silver. 145/6:30 A massively parallel pipeline to clone DNA variants and examine molecular phenotypes of human disease mutations. H. Yu. 146/6:45 Gene discovery in Mendelian diseases. D. Vuzman, N. Y. Frank, N. Stitziel, S. Chopra, S. R. Sunyaev, R. L. Maas, Brigham Genomic Medicine Program (BGMP).
NEW for 2015: ASHG will set up a secure slide-sharing website for oral presentations. This is an opt-in policy for speakers who wish to share their slides. Slides will be available a few weeks after the meeting. 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.
INVITED AND PLATFORM SESSIONS
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Thursday, October 8 5:00 PM–7:00 PM Concurrent Platform Session C
Thursday, October 8 5:00 PM–7:00 PM Concurrent Platform Session C
34. The Real Next Gen: Reproductive Genetics
35. Genetic Problems of the Heart, Aorta, and Valves
Room 307, Level 3, Convention Center Moderators: Urvashi Surti, Univ Pittsburgh Brynn Levy, Columbia Univ Med Ctr, New York 147/5:00 An important role for rare loss-of-function variants in spermatogenic failure. R. George, J. Hughes, L. Brown, L. Lin, D. Koboldt, R. Fulton, R. Oates, S. Silber, R. Wilson, D. Page. 148/5:15 Complex mitotic-origin aneuploidy in human embryos: Genetic risk factors and fertility consequences. R. C. McCoy, Z. Demko, A. Ryan, M. Banjevic, M. Hill, S. Sigurjonsson, M. Rabinowitz, H. B. Fraser, D. A. Petrov. 149/5:30 Expanding non-invasive prenatal testing to include microdeletions and segmental aneuploidy: Cause for concern? T. Sahoo, M. N. Strecker, N. Dzidic, S. Commander, M. K. Travis, C. Doherty, K. Hovanes. 150/5:45 NLRP2: A paternally-imprinted gene implicated in innate immunity and blastocyst development has a major gene effect on endometriosis. K. Ward, R. Chettier, P. Farrington, H. Albertsen. 151/6:00 Investigation of DNA variants responsible for pre-eclampsia. R. McGinnis, F. Dudbridge, D. Lawlor, J. Kemp, C. Franklin, N. Williams, On behalf of the InterPregGen Consortium. 152/6:15 Ancestry matched genome-wide association study identifies variants associated with spontaneous preterm birth. M. Sirota, J. Toung, W. Sikora-Wohfeld, C. R. Gignoux, C. D. Bustamante, G. Shaw, H. O’Brodovich, D. Stevenson, A. J. Butte.
154/6:45 Assessing genetic counsellors’ use of shared decision-making. P. H. Birch, A. V. PortThompson, S. Adam, F. Legaré, J. M. Friedman.
155/5:00 Mutations in DCHS1 cause mitral valve prolapse. D. Milan, R. Durst, K. Sauls, M. Talkowski, J. J. Schott, X. Jeunemaitre, A. Hagege, R. A. Levine, R. A. Norris, S. Slaugenhaupt. 156/5:15 ROBO-SLIT mutations predispose individuals to bicuspid aortic valve with ascending aortic aneurysm. R. A. Gould, H. Aziz, A. Kumar, C. Preuss, C. Woods, N. Sobreira, H. Ling, S. A. Mohamed, A. Franco-Cereceda, G. Andelfinger, A. S. McCallion, P. Eriksson, L. V. Laer, B. L. Loeys, H. C. Dietz, MIBAVA Foundation Leducq. 157/5:30 Genetic, developmental, and paracrine interactions in the complex pathogenesis of heritable aneurysm conditions. E. Gallo MacFarlane, J. P. Habashi, Y. Chen, D. Bedja, H. C. Dietz. 158/5:45 Discovery of novel genes underlying congenital heart defects driven by analysis of 4,593 exomes from affected families. A. Sifrim, M.-P. Hitz, S. Al Turki, A. Wilsdon, J. McRae, T. Singh, B. Thienpont, J. Breckpot, K. Setchfield, F. Bu’Lock, A. K. Manickaraj, A. V. Postma, S. Omer, J. Bentham, S. Bhattacharya, C. Cosgrove, H. Watkins, H. Abdul-Khaliq, H.-H. Kramer, O. Tokan, U. Bauer, P. Daubeney, R. Abu-Sulaiman, K. Devriendt, S. Mital, B. Keavney, J. Goodship, S. Klaassen, D. Brook, M. E. Hurles, UK10K Consortium, Deciphering Developmental Disorders Study. 159/6:00 A rare missense variant in the B-type natriuretic peptide gene NPPB is associated with increased risk for incident heart failure. P. Salo, A. Havulinna, P. Jousilahti, V. Salomaa, M. Perola. 160/6:15 Meta-analysis of exome chip variants identifies rare and common variants associated with electrocardiographic left ventricular mass. G. Kosova, N. Verweij, P. van der Harst, C. Newton-Cheh, on behalf of the CHARGE Consortium EX-EKG working group. 161/6:30 Investigating the effects of coding variants on QT and JT intervals utilizing data from 95,626 individuals. N. A. Bihlmeyer, J. A. Brody, D. E. Arking, N. Sotoodehnia, CHARGE Consortium EX EKG Working Group. 162/6:45 HUNTing for susceptibility genes for myocardial infarction with whole genome sequencing. C. Willer, O. Holmen, H. Zhang, E. Schmidt, W. Zhou, J. Chen, G. Abecasis, M. Boehnke, R. Mills, H. M. Kang, K. Hveem.
NEW for 2015: ASHG will set up a secure slide-sharing website for oral presentations. This is an opt-in policy for speakers who wish to share their slides. Slides will be available a few weeks after the meeting. 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.
INVITED AND PLATFORM SESSIONS
153/6:30 Large scale genome-wide association study for birth weight identifies 13 novel loci and reveals genetic links with a variety of adult metabolic and anthropometric traits. M. Horikoshi, F. R. Day, J. R. B. Perry, J.-J. Hottenga, R. Li-Gao, M. N. Kooijman, R. Beaumont, N. M. Warrington, N. J. Timpson, Early Growth Genetics (EGG) Consortium.
Room 309, Level 3, Convention Center Moderators: Elizabeth K. Speliotes, Univ Michigan, Ann Arbor Tim Assimes, Stanford Univ Sch Med
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INVITED AND PLATFORM SESSIONS
Thursday, October 8 5:00 PM–7:00 PM Concurrent Platform Session C
Thursday, October 8 5:00 PM–7:00 PM Concurrent Platform Session C
36. Methods Matter: Approaches for Genomic Analysis
37. Clinical Genetics: From Sequence to Mechanism
Room 316, Level 3, Convention Center Moderators: Kees Albers, Radboud UMC, Nijmegen, Netherlands Melissa Gymrek, MIT, Cambridge
163/5:00 In silico predictive modelling of CRISPR/ Cas9 guide efficiency. J. Listgarten, I. Smith, M. Hegde, J. Doench, N. Fusi. 164/5:15 A novel algorithm for estimating shared haplotype segments using rare genetic variants. P. Albers, M. McCarthy, G. McVean. 165/5:30 PADRE: Pedigree Aware Distant Relationship Estimation. J. E. Below, J. Staples, D. J. Whitherspoon, L. B. Jorde, U. W. C.M.G., D. A. Nickerson, C. D. Huff. 166/5:45 Haplotype phasing using cluster graphs. D. C. Aguiar, L. T. Elliott, Y. W. Teh, B. E. Engelhardt. 167/6:00 Fine-mapping cellular trait QTLs with RASQUAL and ATAC-seq. N. Kumasaka, A. Knights, D. Gaffney. 168/6:15 A phenotype-aware approach to the prioritization of coding and non-coding rare disease variants. D. Smedley, J. Jacobsen, C. Mungall, N. Washington, S. Kohler, S. E. Lewis, M. Haendel, P. N. Robinson. 169/6:30 Subclonal hierarchy inference from somatic mutations: Automatic reconstruction of cancer evolutionary trees from multi-region next generation sequencing. N. Niknafs, V. BelevaGuthrie, D. Q. Naiman, R. Karchin. 170/6:45 A powerful new method based on mutual information to simultaneously test for additive, dominance, and interaction effects. A. I. Young, F. Wauthier, P. Donnelly.
Room 318/321, Level 3, Convention Center Moderators: Katrina Dipple, UC Los Angeles Helga Toriello, Spectrum Hlth, Grand Rapids
171/5:00 A new ciliopathy protein complex directing assembly of the IFT machinery is implicated in OFD syndrome and other ciliopathies. C. ThauvinRobinet, A. L. Bruel, M. Toriyama, C. Lee, S. P. Taylor, I. Duran, D. H. Cohn, J. M. Tabler, K. Drew, M. R. Kelley, S. Kim, T. J. Park, D. Braun, G. Pierquin, A. Biver, K. Wagner, A. Malfroot, I. Panigrahi, H. A. Al-Lami, Y. Yeung, Y. J. Choi, L. Faivre, JB. Riviére, J. Chen, K. J. Liu, E. M. Marcotte, F. Hildebrandt, D. Krakow, P. K. Jackson, J. B. Wallingford. 172/5:15 Differential regulation of glucose homeostasis and -cell mass in Bardet-Biedl Syndrome and Alstrom Syndrome. S. Lodh, T. L. Hostelley, C. C. Leitch, E. A. O’Hare, N. A. Zaghloul. 173/5:30 Loss-of-function mutations in IFIH1 predispose to severe viral respiratory infections in children. S. Asgari, L. J. Schlapbach, S. Anchisi, C. Hammer, I. Bartha, PJ. McLaren, T. Junier, D. Garcin, J. Fellay. 174/5:45 A novel (epi)genotype-specific and histotype-targeted tumor surveillance protocol in Beckwith-Wiedemann Syndrome based on cancer data meta-analysis. A. Mussa, M. Gregnanin, C. Molinatto, G. Baldassarre, S. Russo, A. Riccio, G. B. Ferrero. 175/6:00 A recurrent mosaic mutation of SMO (Smoothened) causes Curry-Jones syndrome. S. R. F. Twigg, Y. Zhou, K. A. Miller, S. J. McGowan, J. Taylor, J. Craft, J. C. Taylor, A. F. Brady, J. ClaytonSmith, C. L. Clericuzio, C. J. Curry, W. B. Dobyns, D. K. Grange, D. Horn, R. B. Hufnagel, M. C. Jones, I. K. Temple, A. O. M. Wilkie. 176/6:15 The genetics of emphysema: Mutations in telomere genes uncover a distinct genetic etiology and common mechanism for pathogenesis. S. E. Stanley, C. D. Applegate, M. Armanios. 177/6:30 High frequency of VACTERL association in Fanconi Anemia. B. P. Alter, S. A. Savage, N. Giri. 178/6:45 De novo deletions and truncating mutations in USP9X cause a recognizable ID syndrome with multiple congenital abnormalities in females. M. R. F. Reijnders, V. Zachariadis, B. Latour, G. M. Mancini, C. M. A. van Ravenswaaij-Arts, H. E. Veenstra, B. M. Anderlid, S. Wood, A. S. Brooks, H. Malmgren, M. Vreeburg, V. R. Sutton, Z. Stark, J. Gecz, L. Jolly, C. Gilissen, R. Pfundt, T. Kleefstra, R. Roepman, A. Nordgren, H. G. Brunner.
NEW for 2015: ASHG will set up a secure slide-sharing website for oral presentations. This is an opt-in policy for speakers who wish to share their slides. Slides will be available a few weeks after the meeting. 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.
INVITED AND PLATFORM SESSIONS
Thursday, October 8 5:00 PM–7:00 PM Concurrent Platform Session C
Thursday, October 8 5:00 PM–7:00 PM Concurrent Platform Session C
38. Clinical Impact of Genetic Variation
39. Mendel and Beyond: Looking through Genome Sequences
Holiday Ballroom 1, 2nd Floor, Hilton Baltimore Hotel Moderators: Marshall Summar, Children’s Natl Med Ctr, Washington, DC Howard McLeod, Moffitt Cancer Center, Tampa 179/5:00 Genome-wide association study of olanzapine pharmacokinetics. K. L. Bigos, R. M. Haynes, D. Chen, D. R. Weinberger. 180/5:15 Concurrent direct human leukocyte antigen (HLA) genotyping and genome-wide association study (GWAS) reveal major genetic determinants of anti-thyroid drug-induced agranulocytosis. P. Chen, S. Shih, P. Wang, C. Fann, W. Yang, T. Chang. 181/5:30 EuDAC: Genome-wide association study of drug-induced agranulocytosis in Europe. M. Wadelius, N. Eriksson, L. Ibañez, E. Bondon-Guitton, R. Kreutz, A. Carvajal, M. Lucena, E. Sancho Ponce, J. Martin, T. Axelsson, Q.-Y. Yue, P. K. Magnusson, P. Hallberg, on the behalf of EuDAC. 182/5:45 The impact of genetics on drug efficacy and implications for future research. M. R. Nelson, T. Johnson, L. Warren, A. R. Hughes, S. L. Chissoe, C.-F. Xu, D. M. Waterworth. 183/6:00 Regulatory variants other than VKORC1 -1639 G>A may explain the effect on warfarin dose. M. Cavalli, N. Eriksson, G. Pan, H. Nord, S. J. Connolly, M. D. Ezekowitz, S. Yusuf, L. Wallentin, M. Wadelius, C. Wadelius. 184/6:15 Assessing the clinical impact of ethnicityspecific pharmacogenetic allele variation in over 100,000 patients with biobank-linked electronic medical records. N. Gonzaludo, T. J. Hoffmann, D. K. Ranatunga, C. Schaefer, N. Risch, P. Y. Kwok. 185/6:30 Efficacy of whole genome sequencing over a lifetime: Medically actionable genomic mutations in 300 patients. M. He, M. Brilliant.
Holiday Ballroom 4, 2nd Floor, Hilton Baltimore Hotel Moderators: Suleyman Gulsuner, Univ Seattle Genome Sci Ashleigh Schaffer, UC San Diego 187/5:00 The search for Mendelian genes (MG) using whole exome sequencing (WES): Lessons learned from analysis of >5,000 cases. N. Sobreira, S. Jhangiani, F. Schiettecatte, C. Boehm, K. Doheny, T. Gambin, Z. Akdemir, D. Muzny, R. Gibbs, E. Boerwinkle, W. Wiszniewski, J. Lupski, A. Hamosh, D. Valle. 188/5:15 Discovery of novel dominant and recessive causes of severe developmental disorders, in coding and non-coding sequences. M. Hurles, The Deciphering Developmental Disorders (DDD) Study. 189/5:30 Defining variation sensitive regions in genes associated with disease. A. N. Abou Tayoun, S. H. Al Turki, M. S. Lebo, H. L. Rehm, S. S. Amr. 190/5:45 Individual clinical variation, beyond monogenic disease: The aggregation of pathogenic variant alleles in a personal genome. J. E. Posey, T. Harel, J. A. Rosenfeld, P. Liu, Z. Niu, F. Xia, R. E. Person, M. Walkiewicz, D. M. Muzny, C. M. Eng, E. Boerwinkle, A. L. Beaudet, S. E. Plon, R. A. Gibbs, Y. Yang, J. R. Lupski. 191/6:00 99 Lives Cat Genome Sequencing Initiative: Discovery of feline models for human diseases - every life counts. L. A. Lyons, E. K. Creighton, H. C. Beale, M.-C. W. Lee, B. Gandolfi, 99 Lives Cat Consortium. 192/6:15 Post-zygotic point mutations are an underrecognized source of novel genomic variation. R. Acuna-Hidalgo, M. P. Kwint, T. Bo, M. van de Vorst, M. Pinelli, J. A. Veltman, A. Hoischen, L. E. L. M. Vissers, C. Gilissen. 193/6:30 The hunt for rare disease diagnosis: Utilization of social media, model organisms, and pathway analysis in pediatric exome sequencing. A. I. Nesbitt, E. Denenberg, Z. Yu, S. W. Baker, K. B. Pechter, E. Dechene, H. Dubbs, E. Bedoukian, A. Wilkens, L. Medne, X. Ortiz-Gonzale, E. Zackai, I. Krantz, M. Deardorff, A. Santani. 194/6:45 Improving diagnosis and furthering gene discovery through recruitment of clinical whole exome sequencing cases into research. Z. H. Coban Akdemir, M. K. Eldomery, T. Gambin, T. Harel, A. Stray-Pedersen, S. Penney, J. A. Rosenfeld, S. N. Jhangiani, D. M. Muzny, F. Xia, Y. Yang, C. M. Eng, S. E. Plon, V. R. Sutton, A. L. Beaudet, E. Boerwinkle, R. A. Gibbs, J. R. Lupski.
NEW for 2015: ASHG will set up a secure slide-sharing website for oral presentations. This is an opt-in policy for speakers who wish to share their slides. Slides will be available a few weeks after the meeting. 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.
INVITED AND PLATFORM SESSIONS
186/6:45 Genetic variation in STAT4 predicts response to interferon-therapy for HBeAgpositive chronic hepatitis B. D. Jiang, X. Wu, J. Qian, X. P. Ma, J. Yang, Z. Li, R. Wang, L. Sun, F. Liu, P. Zhang, X. Zhu, J. Wu, K. Chen, L. Zheng, D. Lu, L. Yu, Y. Liu, J. Xu.
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Friday, October 9 8:45 AM–9:00 AM 40. Gruber Genetics Prize Award Presentation and Rosalind Franklin Award Announcement The Gruber Genetics Prize is awarded annually by The Gruber Foundation to a leading scientist, or up to three, in recognition of groundbreaking contributions to any realm of genetics research. The recipients will be presented with a gold laureate pin and will share the $500,000 unrestricted cash award. The Gruber lecture, “CRISPR-Cas9 Genome Editing: Origins and Development of a Revolutionary Technology,” will be given on Friday, October 9 from 1:001:45 pm in Ballroom I/II, Level 4 of the Baltimore Convention Center.
Rosalind Franklin Young Investigator Award: Every three years, the Rosalind Franklin Young Investigator Award is presented to two young women geneticists. One award is for research in genetics of humans and other mammals, and one award is for research in genetics of other model organisms. Funded by The Gruber Foundation, the award is administered by the American Society of Human Genetics and the Genetics Society of America. The awards are for career development and are $75,000 over three years. Winners of the Rosalind Franklin Award are in their first three years in an independent faculty level position in any area of genetics. The recipients of the 2016-2018 Rosalind Franklin Young Investigator Awards will be announced.
Co-Recipients:
Hall F, Level 1, Convention Center
Emmanuelle Charpentier, PhD, Helmholtz Centre for Infection Research in Braunschweig, Germany
Jennifer Doudna, PhD, University of California, Berkeley, CA The official citation to the Prize states: The Gruber Foundation proudly presents the 2015 Genetics Prize to Charpentier and Doudna for establishing a framework for universal genome editing. They discovered that the bacterial enzyme Cas9 is an endonuclease that cuts DNA at sites specified by a guide RNA, and defined biochemically the components required for this reaction. They showed that the sequence of the guide RNA could be modified to target the endonuclease to virtually any site. This provided the mechanism by which bacteria acquire immunity to specific viral infections, allowed introduction of specific mutations at desired sites, and provided the means to transfer efficient Cas9-directed break, repair, and editing to any cell type. This method has broadly enabled genome editing for uses in basic biology, medicine, biotechnology, and agriculture.
NEW for 2015: ASHG will set up a secure slide-sharing website for oral presentations. This is an opt-in policy for speakers who wish to share their slides. Slides will be available a few weeks after the meeting. 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.
INVITED AND PLATFORM SESSIONS
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Friday, October 9 9:00 AM–9:30 AM
Friday, October 9 9:30 AM–9:45 AM
41. ASHG William Allan Award Presentation
42. The ASHG Arno Motulsky-Barton Childs Award for Excellence in Human Genetics Education
Hall F, Level 1, Convention Center
The ASHG William Allan Award recognizes a scientist for substantial and far-reaching scientific contributions to human genetics. It was established in 1961 in memory of William Allan, MD (1881-1943), one of the first American physicians to conduct extensive research on human genetics and hereditary diseases. Introduction: Gene S. Fisch, CUNY/Baruch College Recipient: Kay E. Davies, DPhil Dr. Lee’s Professor of Anatomy, Department of Physiology, Anatomy and Genetics, and Associate Head of the Medical Sciences Division Director of the Medical Research Council Functional Genomics Unit, University of Oxford, UK Dr. Davies led early research into Duchenne Muscular Dystrophy (DMD). In the 1980s, her research group identified genetic markers that allow prenatal diagnosis and carrier status determination of DMD, and mapped the gene coding for DMD to a specific location on the X chromosome. They also described the gene’s size and genetic deletions associated with disease, including a very large deletion of the gene coding for dystrophin found in a patient with mild disease. Follow-up research showed that in mice, introducing the dystrophin gene could prevent disease progression, which pioneered the development of dystrophin “minigenes” to treat DMD in people.
A longtime member of ASHG, Dr. Davies served on the Society’s Board of Directors from 2011-2013 and currently chairs its Nominating Committee. She has published 384 peer-reviewed papers, won numerous awards, and delivered several special lectures at various institutions. Recent Recipients: Stuart H. Orkin (2014); Aravinda Chakravarti (2013); Uta Francke (2012); John M. Opitz (2011); Jurg Ott (2010)
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. Individually and together, each of this year’s three recipients is an accomplished geneticist and educator. Over the years, they have taught regularly as well as run their own laboratories, and have been involved in program development and/or mentoring at various levels. Introduction: Peter Byers, Univ of Washington, Seattle Recipients:
Robert L. Nussbaum, MD Chief Medical Officer, Invitae Clinical Professor of Medicine (Volunteer), University of California, San Francisco Roderick R. McInnes, CM, MD, PhD Director of the Lady Davis Institute at the Jewish General Hospital and Alva Chair in Human Genetics, Canada Research Chair in Neurogenetics, and Professor of Human Genetics and Biochemistry McGill University, Montreal, Canada
Huntington F. Willard, PhD President and Director, Marine Biological Laboratory, Woods Hole Professor of Human Genetics, University of Chicago Dr. Nussbaum has worked on elucidating the genetic basis of disease, including the heritable forms of Parkinson disease, Lowe syndrome, and choroideremia. He has taught medicine and human genetics in various capacities over the years, from genetic counseling programs to medical school curricula to a publicly available online course for medical professionals. He served on the AJHG Editorial Board from 1987-1989; was a member of multiple ASHG committees since 1990, including a year as Chair of the Program Committee in 1992; belonged to the Society’s Board of Directors from 1992-1996; and was its President in 2004.
NEW for 2015: ASHG will set up a secure slide-sharing website for oral presentations. This is an opt-in policy for speakers who wish to share their slides. Slides will be available a few weeks after the meeting. 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.
INVITED AND PLATFORM SESSIONS
Dr. Davies’ work also led to the characterization of the protein utrophin, a relative of dystrophin. Working in mice, her group showed that increasing utrophin levels could prevent disease, developed drugs that do so, and began pursuing these as an approach to treat DMD in humans. Unlike some existing therapeutics, this strategy would be applicable to all patients. Her laboratory also uses mouse models to study other neurogenetic diseases, such as schizophrenia and ALS, with a focus on genes that affect the course of disease and clinical outcomes.
Hall F, Level 1, Convention Center
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INVITED AND PLATFORM SESSIONS
Friday, October 9 9:30 AM–9:45 AM
Friday, October 9 9:45 AM–10:05 AM
Dr. McInnes has contributed to scientific understanding of retina and eye development, as well as retinal degeneration, and currently, his laboratory focuses on neuronal processes. He has served on numerous educational committees since the 1970s, launched a training program for clinician-scientists, and taught genetics and provided guidance at the medical and graduate levels. Dr. McInnes has served on several ASHG committees since 1989, including a year as Chair of the Nominating Committee in 2000, and was an AJHG Associate Editor from 19941996. He was also a member of the ASHG Board of Directors from 2004-2007 and again from 2009-2012, and was the Society’s president in 2010.
43. ASHG Victor A. McKusick Leadership Award Presentation
Dr. Willard’s research has focused on the structure and function of chromosomes and genomes. Since the early 1980s, he has developed and directed educational programs at the medical, graduate, and undergraduate levels in human genetics, genomics, and computational biology. He has also co-edited several editions of the reference textbook Genomic and Personalized Medicine. Since 1986, Dr. Willard has served on various ASHG committees, including chairing the Nominating Committee in 1987 and 2006 and chairing the Program Committee in 1994, and was an AJHG Associate Editor from 1989-1991. He was a member of the ASHG Board of Directors from 1994-1996 and again from 2000-2003, and was the Society’s president in 2001. In addition, he received the ASHG William Allan Award in 2009. Since 2001, Drs. Nussbaum, McInnes, and Willard have collaboratively authored the sixth, seventh, and eighth editions of the human genetics textbook Genetics in Medicine. Nearly 60 genetics education programs worldwide currently use the textbook, in levels ranging from undergraduate to graduate and professional study, and in diverse contexts including medical, nursing, public health, speech and language, and dental programs. Recent Recipients: Suzanne B. Cassidy (2014); Jessica G. Davis (2013); Alan Emery (2012); Giovanni Romeo (2011); Thomas D. Gelehrter (2010)
Hall F, Level 1, Convention Center
The ASHG Victor A. McKusick Leadership Award recognizes individuals whose professional achievements have fostered and enriched the development of human genetics as well as its assimilation into the broader context of science, medicine, and health. Recipient:
Charles Scriver, MD Alva Professor Emeritus of Human Genetics, and Professor of Pediatrics, Biochemistry (Associate), Biology (Honorary), and Human Genetics at McGill University, Montreal, Canada Dr. Scriver, a clinician-scientist who has dedicated his career to discovering, training, treating, and educating the public about inherited metabolic and other genetic diseases, has worked at McGill University for more than 50 years, having founded the deBelle Laboratory for Biochemical Genetics in 1961. Early in his career, Dr. Scriver encountered a recurrent seasonal epidemic in Quebec that affected infants and children with Vitamin D deficiency. Along with colleagues, he instituted a combination of epidemiological, regulatory, economic, political, demographic, and cultural approaches to address the problem. Over the following years, he studied inborn errors of metabolism in the newly created deBelle Laboratory, where he identified a variety of inborn errors affecting enzymes, metabolic pathways, and membrane transport systems. He also helped develop pediatric genetic screening programs for high school students, which were shown to have lasting effects on personal and public health in Quebec. In addition, he helped implement a province-wide newborn screening program for phenylketonuria and hypothyroidism. In addition to promoting public health, Dr. Scriver has been a leader in human genetics education and research. He served as lead editor of the 6th, 7th, and 8th editions of The Metabolic and Molecular Bases of Inherited Disease and is currently an emeritus editor of its online edition. He developed a Quebecwide database tracking the incidence of genes that cause metabolic disorders, and since the 1980s, has advocated for the sharing of information to move genetics research forward.
NEW for 2015: ASHG will set up a secure slide-sharing website for oral presentations. This is an opt-in policy for speakers who wish to share their slides. Slides will be available a few weeks after the meeting. 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.
INVITED AND PLATFORM SESSIONS
Friday, October 9 9:45 AM–10:05 AM (SESSION 43, continued)
Friday, October 9 10:00 AM–10:15 AM
A member of ASHG since the 1960s, he was part of its Committee on Genetic Services from 1975-1979, chaired its Awards Committee from 1979-1980, and chaired its Editorial Committee from 1985-1987. He also belonged to the Society’s Board of Directors from 1971-1974 and from 1985-1988, including a year as President in 1986. In addition, he has served as president of the Canadian Society for Clinical Investigation (1975), the Society for Pediatric Research (1976), the Society for the Study of Inherited Metabolic Diseases (UK) (1988), and the American Pediatric Society (1995).
44. ASHG Curt Stern Award Presentation
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Hall F, Level 1, Convention Center
The ASHG Curt Stern Award recognizes genetics and genomics researchers who have made significant scientific contributions during the past decade. Introduction: Elaine Ostrander, NHGRI, Bethesda Recipient:
Leonid Kruglyak, PhD Professor of Human Genetics and Professor of Biological Chemistry, University of California, Los Angeles Investigator, Howard Hughes Medical Institute
Recent Recipients: David Valle (2014); Kurt Hirschhorn and Rochelle Hirschhorn (2013); Francis Collins (2012); Leon E. Rosenberg (2011); Charles J. Epstein (2010)
Dr. Kruglyak’s research has focused on understanding how genes interact with each other and the environment to influence traits. As a postdoc in the mid-1990s, he developed algorithms for the computer program GENEHUNTER, which allowed complex calculations of genetic linkage to be carried out on personal computers and quickly became a standard tool for mapping complex disease genes. Over the next decade, he authored key papers predicting the number of genetic markers required for GWAS in humans, and pioneered the field of genetics of global gene expression (eQTL analysis). In recent years, his laboratory has focused on using genomic technology to establish S. cerevisiae and C. elegans as model organisms to study complex genetic variation. A member of ASHG since 1999 and AAAS Fellow since 2007, Dr. Kruglyak has received many awards, including a James S. McDonnell Centennial Fellowship in Human Genetics and a Burroughs Wellcome Fund Innovation Award in Functional Genomics. In 2007, ISI Thomson Scientific named Dr. Kruglyak a Highly Cited Researcher in Molecular Biology and Genetics, and as of 2015, his work has been cited over 40,000 times.
NEW for 2015: ASHG will set up a secure slide-sharing website for oral presentations. This is an opt-in policy for speakers who wish to share their slides. Slides will be available a few weeks after the meeting. 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.
INVITED AND PLATFORM SESSIONS
Recent Recipients: Gonçalo R. Abecasis and Mark J. Daly (2014); John V. Moran (2013); Jay Shendure (2012); David Altshuler (2011); Vivian G. Cheung (2010)
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INVITED AND PLATFORM SESSIONS
Friday, October 9 10:15 AM–10:30 AM 45. ASHG Advocacy Award Presentation Hall F, Level 1, Convention Center
The ASHG Advocacy Award, new in 2015, honors individuals or groups who have exhibited excellence and achievement in applications of human genetics for the common good, in areas such as facilitating public awareness of genetics issues, promoting funding for biomedical research, and integrating genetics into health systems. Introduction: Michael Watson, Executive Director, American College of Medical Genetics and Genomics, Bethesda Recipient:
For these achievements and others, Dr. Howell has received numerous awards, including Lifetime Achievement Awards from the Duke University Medical Alumni Association (2007) and from ACMG (2012), as well as the March of Dimes Colonel Harland D. Sanders Lifetime Achievement Award in Genetics (2013). In 1989, the University of Texas Medical School launched the R. Rodney Howell MD Lectureship in Medical Genetics in his honor, and in 2012, the Newborn Foundation/Newborn Coalition established the R. Rodney Howell Award in Newborn Health, naming Dr. Howell as its first recipient. In 2013, to commemorate the 30th anniversary of the Federal Rare Disease Act, he was named one of 30 Rare Disease Heroes by the U.S. FDA.
R. Rodney Howell, MD Professor in the Department of Pediatrics, Chairman Emeritus of Pediatrics, and Member of the Hussman Institute for Human Genomics University of Miami Leonard M. Miller School of Medicine Dr. Howell has led varied efforts to leverage biomedical and genetic advances to improve public health. He has held leadership positions with the Muscular Dystrophy Association since the 1980s, in which roles he advocated for research and improved care of people with muscular dystrophy and other neuromuscular diseases. He has also been heavily involved in implementing newborn genetic screening in the United States, leading a 2003 federal expert panel through standardizing screening protocols across the country, which led to the expansion of screening programs the following year. From 2003 to 2011, he led the congressionally mandated Advisory Committee on Heritable Disorders of Newborns and Children. In this role, he advised policymakers on pediatric genetic testing, including newborn screening, and established evidence-based processes that the Committee continues to use.
Coffee break begins at 10:30 am in the Exhibit Hall followed by Poster Sessions from 10:45 am - 12:45 pm
In addition, Dr. Howell has shown leadership in his own scientific and medical communities. From 1984-1986, he chaired the ASHG Genetics Services Committee. He was elected an AAAS Fellow in 1996 and has served on the Board of Directors for the American College of Medical Genetics and Genomics (ACMG) Foundation since 1992, including ten years as its president from 2003-2012. He was also a member of the ACMG Board of Directors from 1991-2012, serving as its President from 1999-2000.
NEW for 2015: ASHG will set up a secure slide-sharing website for oral presentations. This is an opt-in policy for speakers who wish to share their slides. Slides will be available a few weeks after the meeting. 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.
INVITED AND PLATFORM SESSIONS
Friday, October 9 2:15 PM–4:15 PM Concurrent Platform Session D
Friday, October 9 2:15 PM–4:15 PM Concurrent Platform Session D
46. Hen’s Teeth? Rare Variants and Common Disease
47. The Zen of Gene and Variant Assessment
Ballroom I, Level 4, Convention Center Moderators: Mingyao Li, Univ Penn, Philadelphia Jason Flannick, Broad Inst, Boston
195/2:15 Rare variants are a large source of heritability for gene expression patterns. R. Hernandez, D. Vasco, L. Uricchio, C. Ye, N. Zaitlen. 196/2:30 Haplotypes of common SNPs explain a large fraction of the missing heritability of complex traits. G. Bhatia, A. Gusev, P. Loh, B. J. Vilhjálmsson, S. Ripke, S. Purcell, E. Stahl, M. Daly, T. R. de Candia, M. C. O’Donovan, S. H. Lee, N. Wray, B. M. Neale, M. C. Keller, N. A. Zaitlen, B. Pasaniuc, J. Yang, A. L. Price, Schizophrenia Working Group of the Psychiatric Genomics Consortium. 197/2:45 Estimating the respective contributions of human and viral genetic variation to HIV control. I. Bartha, P. McLaren, C. Brumme, R. Harrigan, A. Telenti, J. Fellay. 198/3:00 Rare and low-frequency coding variants contribute independently to human stature variation. M. C. Medina Gomez, E. Marouli, M. Graff, K. S. Lo, K. Lu, C. Schurmann, H. M. Highland, N. Heard-Costa, C. M. Lindgren, D. Liu, I. B. Borecki, J. N. Hirschhorn, R. J. F. Loos, T. M. Frayling, F. Rivadeneira, G. Lettre, P. Deloukas, On behalf of the BBMRI, the GOT2D, the CHARGE, and the GIANT Consortia. 199/3:15 Imputation of rare variants from the new Haplotype Reference Consortium identifies associations missed by 1000 Genomes. A. R. Wood, R. Beaumont, D. Hernandez, M. Nalls, J. R. Gibbs, S. Bandinelli, M. N. Weedon, A. Murray, A. Singleton, D. Melzer, L. Ferrucci, T. M. Frayling, Haplotype Reference Consortium.
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Ballroom III, Level 4, Convention Center Moderators: Shashikant Kulkarni, Washington Univ, St. Louis Yaping Yang, Baylor Col of Med, Houston 203/2:15 Allele frequency distribution of pathogenic sequence variants in ExAC and the implications for clinical genetic testing. Y. Kobayashi, S. Yang, A. McMurry, J. Garcia, S. Lincoln, K. Nykamp, S. Topper. 204/2:30 Classifying variants detected by whole genome sequencing of a healthy population: The good, the bad, and the ugly. S. Punj, Y. Akkari, M. O. Dorschner, D. A. Nickerson, G. P. Jarvik, L. M. Amendola, D. K. Simpson, A. Rope, J. Reiss, K. Kennedy, D. I. Quigley, C. Harding, J. Berg, T. Kauffman, M. Gilmore, P. Himes, B. Wilfond, K. A. B. Goddard, C. S. Richards. 205/2:45 Exploring the landscape of pathogenic genetic variation in the ExAC population database: Insights of relevance to variant classification. S. Gardner (Equal Contribution), W. Song (Equal Contribution), H. Hovhannisyan, W. Chen, A. Natalizio, K. Bogdanova, K. Weymouth, I. Thibodeau, S. Letovsky, A. Willis, N. Nagan. 206/3:00 Assessing the clinical validity of genes implicated in hereditary pheochromocytoma/ paraganglioma and pancreatic cancer using the ClinGen framework. R. Ghosh, A. Buchanan, N. T. Strande, E. R. Riggs, S. S. Dwight, T. P. Sneddon, C. L. Martin, J. S. Berg, M. J. Ferber, K. Offit, K. L. Nathanson, S. E. Plon. 207/3:15 Assessment of Mendelian disorders among three Bronx, New York populations using ACMG criteria. G. diSibio, K. Upadhyay, P. Meyer, B. Baskovitch, C. Oddoux, H. Ostrer. 208/3:30 Frequency of cardiovascular secondary findings on whole-exome sequencing and utilization in familial testing. R. Tousignant, A. A. Singleton, B. Friedman, K. Retterer, G. Richard, D. Macaya.
201/3:45 Whole-genome sequencing and genotype imputation across 35,000 individuals further defines the genetic architecture of inflammatory bowel disease. C. A. Anderson, on behalf of the UK IBD Genetics Consortium.
209/3:45 Homozygous and compound heterozygous mutations in FBN1, unusual situations in molecular diagnosis of Marfan syndrome. P. Arnaud, N. Hanna, M. Aubart, B. Leheup, S. Dupuis-Girod, M.-A. Delrue, D. Lacombe, O. Milleron, M. Langeois, M. Spentchian, L. Gouya, G. Jondeau, C. Boileau.
202/4:00 The next wave of autism gene discovery by targeted sequencing of thousands of patients. H. Stessman, B. Xiong, T. Wang, K. Hoekzema, L. Vives, N. Janke, C. Lee, B. Coe, R. Bernier, E. Eichler.
210/4:00 Clinician perspectives on inconclusive genetic test results for osteogenesis imperfecta in children with unexplained fractures: Are families at risk if they engage in parental testing for VUS? E. Youngblom, M. L. Murray, P. H. Byers.
NEW for 2015: ASHG will set up a secure slide-sharing website for oral presentations. This is an opt-in policy for speakers who wish to share their slides. Slides will be available a few weeks after the meeting. 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.
INVITED AND PLATFORM SESSIONS
200/3:30 Imputing genotypes of the Haplotype Reference Consortium into the haplotypes of a large case control study of age-related macular degeneration. L. G. Fritsche, S. Das, G. R. Abecasis, International AMD Genomics Consortium.
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INVITED AND PLATFORM SESSIONS
Friday, October 9 2:15 PM–4:15 PM Concurrent Platform Session D 48. New Genes and Mechanisms in Developmental Disorders and Intellectual Disabilities
Room 307, Level 3, Convention Center Moderators: Donna Martin, Univ Michigan, Ann Arbor Heather C. Mefford, Univ Washington, Seattle 211/2:15 Biallelic loss of human CTNNA2, encoding -N-catenin, links ARP2/3-mediated actin regulation to neuronal migration. A. E. Schaffer, A. O. Caglayan, N. Al-Sanaa, H. Y. Al-Abdulwahed, R. O. Rosti, B. Copeland, S. T. Baek, E. Scott, M. S. Zaki, G. M. H. Abdel-Salam, T. Ben-Omran, A. Karimenejad, H. Kayserili, F. Mojahedi, M. Kara, N. Cai, J. Silhavy, E. Yosunkaya, B. A. Barshop, B. Kara, R. Nachnani, H. Megahed, F. Incecik, S. Danda, I. Miller, W. B. Dobyns, S. Gabriel, K. Bilguvar, M. Gunel, J. G. Gleeson.
217/3:45 To elucidate the genetic of recessive cognitive disorders: 104 novel genes identified using deep sequencing. H. Najmabadi, H. Hu, Z. Fattahi, L. Musante, S. S. Abedini, M. Hosseini, F. Larti, M. Mohseni, P. Jamali, M. Beheshtian, F. Mojahedi, T. F. Wienker, K. Kahrizi, H. H. Ropers. 218/4:00 Variants in TAF1 are associated with a new syndrome with severe intellectual disability and characteristic dysmorphic features. G. J. Lyon, J. A. O’Rawe, Y. Wu, A. Rope, P. Y. Au, K. Kosma, C. Smith, S. Kitsiou-Tzeli, J. Schuette, F. Martinez, C. Orellana, M. Rosello, S. Oltra, A. Caro-Llopis, L. Jimenez Barrón, J. Swensen, H. Fang, D. Mittelman, C. Keegan, R. Robison, E. Yang, J. Parboosingh, K. Wang, J. Parboosingh, V. Kalscheuer, M. Hammer, M. Kousi, E. Davis, N. Katsanis, E. Wang.
212/2:30 Missense mutations in the middle domain of DNM1L cause infantile encephalopathy in humans and peroxisomal and mitochondrial defects in Drosophila and humans. L. Robak, Y. Chao, F. Xia, M. Koenig, C. Bacino, F. Scaglia, M. Wangler. 213/2:45 Mosaic and constitutional mutations of MTOR cause a spectrum of developmental brain disorders from focal cortical dysplasia to diffuse megalencephaly. G. Mirzaa, C. Campbell, N. Solovieff, L. Jansen, A. Timms, V. Conti, C. Adasm, E. Boyle, S. Collins, G. Ishak, S. Poliachik, S. Gunter, R. Leary, S. Mahan, M. Doerschner, S. Jhangiani, D. Muzny, E. Boerwinkle, R. Gibbs, J. Lupski, J. Shendure, R. Saneto, E. Novotny, W. Sellers, L. Murphy, M. Morrissey, J. Ojemann, R. Guerrini, W. Winckler, W. Dobyns. 214/3:00 MTIF2 mutations cause a novel disorder of mitochondrial translation. S. B. Pierce, R. Ganetzky, J. A. Foster, D. Xu, S. Wakefield, N. Sondheimer, S. P. Yang. 215/3:15 Overexpression of the chromosome 21 gene ATP5O results in enteric hypoganglionosis: The missing link between Down Syndrome and Hirschsprung disease? R. K. Chauhan, R. Lasabuda, Z. Azmani, H. C. van der Linde, A. S. Brooks, S. Edie, R. H. Reeves, A. J. Burns, I. T. Shepherd, R. M. W. Hofstra. 216/3:30 Mutations in PPP2R5D are a novel cause of intellectual disability, macrocephaly, hypotonia, and autism. L. B. Henderson, L. Shang, M. T. Cho, C. T. Fong, K. M. Haude, N. Shur, J. Lundburg, N. Hauser, J. Carmichael, J. Innis, J. Schuette, Y. W. Wu, S. Asaikar, M. Pearson, L. Folk, K. Retterer, K. G. Monaghan, W. K. Chung.
NEW for 2015: ASHG will set up a secure slide-sharing website for oral presentations. This is an opt-in policy for speakers who wish to share their slides. Slides will be available a few weeks after the meeting. 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.
INVITED AND PLATFORM SESSIONS
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Friday, October 9 2:15 PM–4:15 PM Concurrent Platform Session D
Friday, October 9 2:15 PM–4:15 PM Concurrent Platform Session D
49. Statistical Genetics: Networks, Pathways, and Expression
50. Going Platinum: Building a Better Genome
219/2:15 A pathway-centric approach to rare variant association analysis. T. G. Richardson, N. J. Timpson, C. Campbell, T. R. Gaunt.
227/2:15 Building a platinum assembly from single haplotype human genomes generated from long molecule sequencing. K. Meltz Steinberg, T. A. Graves-Lindsey, V. A. Schneider, R. S. Fulton, J. Chin, M. Kremitzki, W. C. Warren, D. M. Church, E. E. Eichler, R. K. Wilson.
Room 309, Level 3, Convention Center Moderators: Dajiang Liu, Penn State Univ, Hershey Brooke Fridley, Univ Kansas Med Ctr, Kansas City
220/2:30 PolyTest: A novel method for joint analysis of genome-wide association studies and functional annotations. D. Golan, A. Raj, K. Gaulton, S. Jain, D. Calderon, Y. Field, T. Raj, J. Pritchard. 221/2:45 Sex-specific gene co-expression networks. B. E. Engelhardt, C. Gao, C. D. Brown. 222/3:00 Detection of master regulatory SNPs in expression and methylation quantitative trait loci studies. J. Shi, W. Wheeler, A. Battle, S. Mostavi, X. Zhu, M. M. Weissman, J. B. Potash, S. B. Montgomery, N. E. Caporaso, M. T. Landi, D. F. Levinson. 223/3:15 Proper use of allele-specific expression improves statistical power for cis-eQTL mapping with RNA-seq data. Y. J. Hu, W. Sun, J. Y. Tzeng, C. M. Perou. 224/3:30 Tensor decomposition uncovers trans eQTL networks in the multi-tissue EuroBATS study. J. Marchini, V. Hore, A. Vinuela, A. Buil, M. McCarthy, K. Small. 225/3:45 Integrative genome-wide gene expression and metabolomics networks in pregnant women identify Vitamin D variants associated with incident preeclampsia cases. J. Lasky-Su, A. Sharma, C. Clish, A. Litonjua, S. Weiss, IMPACT.
228/2:30 Building a better human genome reference and targeting structure using single molecule technologies. R. Sebra, M. Pendleton, A. Pang, A. Ummat, O. Franzen, T. Rausch, A. Stütz, W. Stedman, T. Anantharaman, A. Hastie, H. Dai, M. Fritz, H. Cao, A. Cohain, G. Deikus, L. Newman, S. Scott, A. Uzilov, R. Durrett, S. Blanchard, R. Altman, C. Chin, E. Paxinos, J. Korbel, R. Darnell, W. McCombie, P. Kwok, C. Mason, E. Schadt, A. Bashir. 229/2:45 Genome in a bottle: You may have sequenced, but how well did you do? J. M. Zook, H. Parikh, M. Salit, Genome in a Bottle Consortium and Global Alliance for Genomics and Health. 230/3:00 An accurate read mapper for graph genomes. W. Lee, K. Ghose, V. Semenyuk, D. Kural, R. Brown, A. Jain, B. Murray, B. Pollex, J. Browning, A. Stachyra, F. Sung. 231/3:15 Anchored pseudo-de novo assembly of human genomes identifies extensive sequence variation in unmapped sequence reads. K. H. Brown, J. J. Faber-Hammond. 232/3:30 A diploid personal human genome reference from diverse sequence data: A model for better genomes. K. C. Worley, Y. Liu, D. S. T. Hughes, S. C. Murali, R. A. Harris, A. C. English, O. A. Hampton, C. R. Beck, Y. Han, M. Wang, H. Doddapaneni, C. L. Kovar, W. J. Salerno, S. Richards, J. Rogers, J. R. Lupski, D. M. Muzny, R. A. Gibbs. 233/3:45 Genome-wide copy number detection using a hybrid clinical NGS assay. J. Harris, G. Bartha, S. Luo, A. Patwardhan, S. Garcia, S. Chervitz, M. Morra, D. Church, J. West, R. Chen. 234/4:00 A reference panel of common CNVs and SVs identified from high depth sequencing data on over 2000 samples of European ancestry. M. A. Bekritsky, J. O’Connell, S. S. Ajay, M. A. Eberle.
NEW for 2015: ASHG will set up a secure slide-sharing website for oral presentations. This is an opt-in policy for speakers who wish to share their slides. Slides will be available a few weeks after the meeting. 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.
INVITED AND PLATFORM SESSIONS
226/4:00 Are genetic interactions influencing gene expression in humans evidence for biological epistasis or statistical artifacts? A. Fish, J. A. Capra, W. S. Bush.
Room 316, Level 3, Convention Center Moderators: Deanna Church, Personalis, Inc, Menlo Park Fiona Cunningham, EMBL-EBI Wellcome Trust
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INVITED AND PLATFORM SESSIONS
Friday, October 9 2:15 PM–4:15 PM Concurrent Platform Session D 51. Cancer Genetic Mechanisms
241/3:45 PRKACA defects and adrenal tumors: Human and animal studies and gene dosage effects. P. Salpea, A. Angelousi, B. Yuan, F. R. Faucz, I. Levy, B. Delemer, S. Hieronimus, B. Feve, F. Kelestimur, G. Raverot, J. Bertherat, J. R. Lupski, M. Serpe, C. A. Stratakis.
235/2:15 Integrative analysis of five cancer GWAS meta-analyses with eQTLs and splice QTLs from relevant normal tissues in GTEx proposes causal regulatory processes and genes for cancer risk. A. V. Segrè, D. S. DeLuca, T. Sullivan, E. Gelfand, S. B. Gruber, G. Casey, D. J. Hunter, B. Henderson, T. Sellers, C. I. Amos, D. G. MacArthur, S. Lindstroem, P. Kraft, A. Kristin, G. Getz, The GTEx Consortium, GAME-ON Network, CORECT, DRIVE, ELLIPSE, FOCI and TRICL Consortia.
242/4:00 CLIC5: A new transcriptional target of ETV6 in childhood acute lymphoblastic leukemia. B. Neveu, C. Richer, K. Lagacé, P. Cassart, M. Lajoie, J. F. Spinella, D. Sinnett.
Room 318/321, Level 3, Convention Center Moderators: Marc Greenblatt, Univ Vermont, Burlington Raju Kucherlapati, Brigham and Women’s Hosp, Cambridge
236/2:30 Mutations in a promoter of APC cause a syndrome of gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) without colorectal involvement. G. Chenevix-Trench, J. Li, S. Healey, H. Sivakumaran, J. French, S. Edwards, K. Nones, N. Waddell, P. Pichurin, P. Hulick, K. J. Hamman, U. Rudloff, K. Calzone, J. J. Waterfall, D. Huntsman, P. Meltzer, D. Neklason, D. Goldgar, F. Carneiro, C. Kiraly-Borri, L. Schofield, D. Worthley, N. Lindor, G. Suthers, I. Schrader. 237/2:45 TNS1 mutations and gastrointestinal stromal tumors and defective mitochondria in the blistery (Tns1 knockout) D. melanogaster. F. Faucz, T. Silva, S. Reincke, A. Sen, R. Cox, M. Miettienen, S. Lo, J. Carney, C. Stratakis. 238/3:00 Exome sequencing provides evidence of pathogenicity for genes implicated in the development of colorectal cancer. E. A. Rosenthal, B. H. Shirts, L. Amendola, C. Gallego, M. Horike-Pyne, P. D. Robertson, P. H. Byers, C. Nefcy, D. Veenstra, F. Hisama, R. Bennett, M. O. Dorschner, D. Nickerson, D. Crosslin, R. Nassir, N. Zubair, T. Harrison, U. Peters, G. P. Jarvik. 239/3:15 Recurrent acquisition of super enhancer function drives druggable oncogenic expression programs in colorectal cancer. A. J. Cohen, O. Corradin, A. Saiakhova, C. F. Bartels, J. M. Luppino, G. Dhillon, I. M. Bayles, L. Beard, L. Myeroff, S. D. Markowitz, P. C. Scacheri. 240/3:30 Genomic landscape of colorectal tumors shapes the microbiome of the tumor microenvironment. R. Blekhman, M. Burns, E. Montassier, D. Knights.
NEW for 2015: ASHG will set up a secure slide-sharing website for oral presentations. This is an opt-in policy for speakers who wish to share their slides. Slides will be available a few weeks after the meeting. 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.
INVITED AND PLATFORM SESSIONS
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Friday, October 9 2:15 PM–4:15 PM Concurrent Platform Session D
Friday, October 9 2:15 PM–4:15 PM Concurrent Platform Session D
52. Target Practice: Therapy for Genetic Diseases
53. The Real World: Translating Sequencing into the Clinic
Holiday Ballroom 1, 2nd Floor, Hilton Baltimore Hotel Moderators: Joseph Shieh, UCSF Ken Huttner, Novartis, Cambridge 243/2:15 Towards personalized cellular adoptive immunotherapy targeting tumor specific neoantigens in microsatellite unstable colorectal cancers. P. Maby, M. Hamieh, H. Kora, D. Tougeron, B. Mlecnik, G. Bindea, H. K. Angell, T. Fredriksen, N. Elie, E. Fauquembergue, A. Drouet, J. Leprince, J. Benichou, J. Mauillon, F. Le Pessot, R. Sesboüé, T. Frebourg, J. Galon, J.-B. Latouche. 244/2:30 Functional correction of dwarfism in a mouse model of achondroplasia using the tyrosine kinase inhibitor NVP-BGJ398. D. Komla Ebri, E. Dambroise, I. Kramer, C. Benoist-Lasselin, N. Kaci, P. Busca, G. Prestat, F. Barbault, D. Graus-Porta, A. Munnich, M. Kneissel, F. Di Rocco, M. Biosse-Duplan, L. Legeai-Mallet. 245/2:45 Potential AAV5 gene therapy for MPS IIIB mice brain. S. H. Kan, S. Q. Le, Q. D. Bui, P. I. Dickson. 246/3:00 Quantitative cell image-based high content screening identifies brain permeable small molecules that rescue peroxisome assembly defects in cells from patients with Zellweger spectrum disorder. N. Huang, P. K. Dranchak, A. Flores, C. Argyriou, R. Luo, X. Wang, E. N. Oliphant, A. B. Moser, R. MacAruther, C. Hsu, J. Inglese, N. E. Braverman, J. G. Hacia. 247/3:15 The Fibrodysplasia Ossificans Progressiva mutation ACVR1R206H causes disease by allowing the receptor ACVR1 to respond to Activin A. A. N. Economides, S. J. Hatsell, V. Idone, D. M. Alessi Wolken, L. Huang, H. J. Kim, L. Wang, X. Wen, K. C. Nannuru, J. Jimenez, L. Xie, G. Makhoul, R. Chernomorsky, D. D’Ambrosio, R. A. Corpina, C. Schoenherr, K. Feeley, H. Nistala, P. B. Yu, G. D. Yancopoulos, A. J. Murphy.
249/3:45 Clinical, molecular, and metabolomic studies reveal targets for therapy and new mechanisms of pathology in Barth Syndrome. H. Vernon, R. Thompson, B. DeCroes, R. McClellan, K. Mercier, W. Pathmasiri, S. Dhungana, J. Carlson, S. McRitchie, S. Sumner, Y. Sandlers. 250/4:00 Modulating ryanodine receptors by dantrolene attenuated neuropathic phenotype in Gaucher Disease mice. B. Liou, V. Inskeep, Y. Peng, R. Li, G. A. Grabowski, Y. Sun.
251/2:15 A large-scale survey conducted by the eMERGE Network of patient perspectives on broad consent and data sharing in biospecimen research. M. E. Smith, S. Sanderson, N. Mercaldo, A. Antommaria, S. A. Aufox, M. Brilliant, K. Brothers, M. B. Claar, E. W. Clayton, J. J. Connolly, P. Conway, M. Fullerton, N. A. Garrison, H. Hakonarson, C. R. Horowitz, G. P. Jarvik, D. Kaufman, T. Kitchner, R. Li, E. Ludman, C. McCarty, J. B. McCormick, M. Myers, K. E. Nowakowski, J. Schildcrout, M. J. Shrubsole, S. Stallings, J. L. Williams, S. Ziniel, I. A. Holm. 252/2:30 Adolescents’ opinions on disclosure of non-actionable secondary findings in whole exome sequencing. S. B. Hufnagel, L. J. Martin, A. Cassedy, R. J. Hopkin, A. H. Antommaria. 253/2:45 Responses of primary care physicians to unsolicited secondary findings about Lynch Syndrome. K. D. Christensen, M. T. Scheuner, J. E. Garber, H. L. Rehm, R. C. Green. 254/3:00 The return of whole exome sequencing results in a pediatric cancer setting: What is being said? S. Scollon, L. B. McCullough, K. Bergstrom, R. A. Kerstein, D. W. Parsons, S. E. Plon, R. L. Street Jr. 255/3:15 Communication and management of genomic sequencing results by non-geneticist physicians. J. Krier, C. Blout, D. Lautenbach, J. Vassy, J. Oliver Robinson, M. Helm, K. Lee, M. Murray, R. Green. 256/3:30 Impact of genome sequencing on the medical care of healthy adults. J. L. Vassy, K. D. Christensen, D. Dukhovny, C. L. Blout, J. Oliver Robinson, J. B. Krier, M. F. Murray, A. L. McGuire, R. C. Green, for the MedSeq Project. 257/3:45 Short-term costs of integrating genome sequencing into clinical care: Preliminary results from the MedSeq Project. D. Dukhovny, K. C. Christensen, J. L. Vassy, D. R. Azzariti, C. Lu, H. L. Rehm, A. L. McGuire, R. C. Green, for the MedSeq Project. 258/4:00 Incorporation of whole genome sequencing results into the electronic medical record: Attitudes of MedSeq Project participants. C. L. Blout, J. O. Robinson, A. L. McGuire, P. M. Diamond, K. D. Christensen, L. Jamal, R. C. Green, for the MedSeq Project.
NEW for 2015: ASHG will set up a secure slide-sharing website for oral presentations. This is an opt-in policy for speakers who wish to share their slides. Slides will be available a few weeks after the meeting. 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.
INVITED AND PLATFORM SESSIONS
248/3:30 Necroptosis in Niemann-Pick Disease, type C1: A potential therapeutic target. A. C. Cougnoux, C. V. Cluzeau, J. M. Picache, C. A. Wassif, S. M. Cologna, F. D. Porter.
Holiday Ballroom 4, 2nd Floor, Hilton Baltimore Hotel Moderators: Joon-Ho Yu, Univ Washington, Seattle Jen McCormick, Mayo Clinic, Rochester
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INVITED AND PLATFORM SESSIONS
Friday, October 9 4:30 PM–6:30 PM Concurrent Platform Session E 54. Changing Landscape of Genomic Testing
Ballroom I, Level 4, Convention Center Moderators: Lora Bean, Emory Univ, Atlanta Belinda Chong, VCGS, MCRI, Parkville, Australia
266/6:15 Yield of pathogenic/likely pathogenic variants in women with breast cancer undergoing hereditary cancer panel testing. L. M. Andolina, R. Nusbaum, L. R. Susswein, S. R. Solomon, K. S. Hruska, R. T. Klein.
259/4:30 Contributions of “healthy genomes” to expand our understanding of Mendelian conditions. D. L. Perry, J. Kakishita, A. Khouzam, E. Thorpe, E. Ramos, V. M. Raymond, A. Chawla, A. Livengood, S. Chowdhury, T. M. Hambuch. 260/4:45 Large scale analysis of interracial differences in genetic polymorphisms of CYP2C9, CYP2C19, CYP2D6, CYP3A4, and CYP3A5 in the U.S. population. H. Yao, J. M. Harrington, T. Hsieh, T. Y. Jacobson, M. S. Shumaker, J. A. Byers, M. Nakano, C. J. Sailey, W. Mo. 261/5:00 Protein truncating mutations in the ARID2 gene are associated with a novel neurodevelopmental disorder. B. E. Friedman, L. Shang, M. T. Cho, K. Retterer, L. Folk, J. Humberson, L. Rohena, A. Sidhu, S. Saliganan, A. Iglesias, P. Vitazka, J. Juusola, W. K. Chung. 262/5:15 Molecular diagnoses of acute hepatic porphyrias: Comparisons of mutation positive results for various physician specialties. H. Naik, D. Doheny, J. Overbey, R. Srinivasan, R. J. Desnick, Porphyrias Consortium of the NIH Rare Diseases Clinical Research Network. 263/5:30 Utility of whole genome sequencing for detection of newborn screening disorders in a population cohort of 1696 neonates. D. L. Bodian, E. Klein, R. K. Iyer, W. S. W. Wong, P. Kothiyal, D. Stauffer, K. C. Huddleston, A. D. Gaither, I. Remsburg, A. Khromykh, R. L. Baker, G. L. Maxwell, J. G. Vockley, J. E. Niederhuber, B. D. Solomon. 264/5:45 Diagnostic utility of whole genome sequencing as an alternative to chromosomal microarray analysis in pediatric medicine. D. J. Stavropoulos, R. Jobling, D. Merico, S. Bowdin, N. Monfared, M. S. Meyn, M. Girdea, M. Szego, R. Zlotnik-Shaul, B. Thiruvahindrapuram, G. Pellecchia, T. Nalpathamkalam, M. Brudno, C. Shuman, R. Hayeems, C. Carew, R. Erickson, R. A. Leach, P. N. Ray, R. D. Cohn, S. W. Scherer, C. R. Marshall. 265/6:00 Panel testing for familial breast cancer: Tension at the boundary of research and clinical care. I. Campbell, E. Thompson, S. Rowley, N. Li, S. McInerny, L. Devereux, M. Wong-Brown, A. Trainer, M. Mitchell, R. Scott, P. James, Lifepool.
NEW for 2015: ASHG will set up a secure slide-sharing website for oral presentations. This is an opt-in policy for speakers who wish to share their slides. Slides will be available a few weeks after the meeting. 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.
INVITED AND PLATFORM SESSIONS
Friday, October 9 4:30 PM–6:30 PM Concurrent Platform Session E
Friday, October 9 4:30 PM–6:30 PM Concurrent Platform Session E
55. Making Connections: From DNA Looping to eQTLs and Tissue-specific Regulation
56. Novel Genes, Novel Regulators, and Monogenic Diseases
Ballroom III, Level 4, Convention Center Moderators: Nadav Ahituv, UCSF Tony Capra, Vanderbilt Univ, Nashville
267/4:30 Extremely high resolution 3D maps of human and mouse genomes across lineages and during differentiation reveal principles of chromatin looping. S. Rao, M. Huntley, N. Durand, E. Stamenova, I. Bochkov, J. Robinson, A. Sanborn, I. Machol, A. Omer, E. Lander, E. Lieberman Aiden. 268/4:45 Identifying the transcription factors mediating enhancer–target gene regulation in the human genome. Y.-C. Hwang, P. P. Kuksa, B. D. Gregory, L.-S. Wang. 269/5:00 Cell-free DNA comprises an in vivo nucleosome footprint that informs its tissue(s)of-origin. M. W. Snyder, M. Kircher, A. J. Hill, J. Shendure. 270/5:15 Discovery of dendritic cell subpopulations in human blood by single cell RNAsequencing. A. C. Villani, R. Satija, C. Ford, M. Griesbeck, W. Li, P. De Jager, A. Regev, N. Hacohen. 271/5:30 Mapping expression quantitative trait loci to identify insulin resistance, obesity, and Type 2 diabetes genes in African Americans. S. Das, S. Sajuthi, N. Sharma, J. Chou, J. Calles, J. Demons, S. Rogers, L. Ma, N. Palmer, D. McWilliams, J. Beal, M. Comeau, K. Williams, L. Menon, E. Kouba, D. Davis, J. Byers, M. Burris, S. Byerly, L. Easter, D. Bowden, B. Freedman, C. Langefeld. 272/5:45 Inferring causal relationships between gene expression and complex traits using Mendelian randomization (MR). Y. Park, I. McDowell, G. Gliner, B. F. Voight, B. E. Engelhardt, C. D. Brown, Genotype Tissue Expression (GTEx) Project Consortium.
274/6:15 Mapping genetic and epigenetic factors influencing human hippocampal gene expression. A. Hofmann, H. Schulz, A.-K. Ruppert, S. Herms, K. Pernhorst, C. Wolf, N. Karbalai, D. Czamara, A. J. Forstner, A. Woitecki, B. Pütz, A. Hilmer, N. Fricker, H. Vatter, B. Müller-Myhsok, M. M. Nöthen, T. Sander, A. Becker, P. Hoffmann, S. Cichon.
Room 307, Level 3, Convention Center Moderators: Ozge Birsoy, Partners Healthcare, Brigham and Women’s Hosp of Mass Gen Hosp, Cambridge Ayse Begum Tekinay, Bilkent Univ, Ankare, Turkey
275/4:30 Identification of major genetic modifiers of vascular disease in Marfan Syndrome mice. A. Doyle, J. Doyle, R. Wardlow, N. Wilson, D. Bedja, M. Lindsay, J. Habashi, L. Myers, K. Braunstein, S. Bachir, N. Huso, O. Squires, B. Rusholme, A. George, M. Caulfield, D. Judge, H. Dietz. 276/4:45 Novel genetic modifiers of retinitis pigmentosa identified by exploiting natural variation in Drosophila. C. Y. Chow, M. Wolfner, A. G. Clark. 277/5:00 Identification of a novel mutation for Perrault syndrome in the mitochondrial rRNA chaperone ERAL1. A. S. Plomp, I. A. Chatzispyrou, S. Guerrero, R. Ofman, M. A. M. M. Mannens, R. J. A. Wanders, J. N. Spelbrink, R. H. L. Houtkooper, M. Alders. 278/5:15 The molecular pathology of a large cohort of individuals with inherited retinal disease, determined through whole genome sequencing. K. J. Carss, G. Arno, M. Erwood, E. Dewhurst, J. Stephens, K. Stirrups, S. Ashford, C. Penkett, S. Hull, S. Lawrence, A. T. Moore, M. Michaelides, W. H. Ouwehand, A. R. Webster, F. L. Raymond, NIHR BioResource-Rare Diseases Consortium. 279/5:30 Vibration-induced urticaria due to aberrant mast cell degranulation caused by a mutation in ADGRE2. S. E. Boyden, A. Desai, G. Cruse, M. L. Young, H. C. Bolan, L. M. Scott, A. R. Eisch, R. D. Long, C. R. Lee, C. L. Satorius, A. J. Pakstis, A. Olivera, E. Chouery, A. Mégarbané, M. MedlejHashim, K. K. Kidd, D. L. Kastner, D. D. Metcalfe, H. D. Komarow. 280/5:45 Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achrom. S. Kohl, D. Zobor, W.C. Chiang, N. Weisschuh, I. Gonzalez Menendez, S. Chang, S. C. Beck, M. Garcia Garrido, V. Sothilingam, M. W. Seeliger, F. Stanzial, E. Heon, A. Vincent, J. Beis, T. M. Strom, G. Rudolph, S. Roosing, A. I. den Hollander, F. P. M. Cremers, I. Lopez, H. Ren, A. T. Moore, A. R. Webster, M. Michaelides, R. K. Koenekoop, E. Zrenner, R. J. Kaufman, S. H. Tsang, B. Wissinger, J. Lin.
NEW for 2015: ASHG will set up a secure slide-sharing website for oral presentations. This is an opt-in policy for speakers who wish to share their slides. Slides will be available a few weeks after the meeting. 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.
INVITED AND PLATFORM SESSIONS
273/6:00 Detection and interpretation of genome structural variation in GTEx samples. C. Chiang, R. M. Layer, R. P. Smith, A. J. Scott, A. B. Wilfert, The GTEx Project Consortium, D. F. Conrad, I. M. Hall.
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Friday, October 9 4:30 PM–6:30 PM (SESSION 56, continued) 281/6:00 Mutations in the MET proto-oncogene cause osteofibrous dysplasia and alter the regulation of periosteal osteogenesis. C. A. Wise, M. J. Gray, P. Kannu, S. Sharma, S. P. Robertson, The International Genetics of Osteofibrous Dysplasia Research Group. 282/6:15 MIPEP mutations cause autosomal recessive mitochondrial dysfunction with left ventricular non-compaction, hypotonia, and infantile death. M. K. Eldomery, Z. C. Akdemir, J. A. Rosenfeld, R. Medikonda, L. C. Burrage, A. A. Shamsi, S. Penney, T. Gambin, S. N. Jhangiani, H. H. Zimmerman, D. M. Muzny, X. Wang, P. Ramachandran, L. J. Wong, E. Boerwinkle, R. A. Gibbs, S. E. Plon, A. L. Beaudet, C. M. Eng, J. R. Lupski, S. R. Lalani, J. Hertecant, R. J. Rodenburg, O. A. Abdul-Rahman, Y. Yang, F. Xia, M. C. Wang, V. R. Sutton.
Friday, October 9 4:30 PM–6:30 PM Concurrent Platform Session E 57. New Thoughts about Neurodevelopment and Intellectual Disability Room 309, Level 3, Convention Center Moderators: Lauren Weiss, UCSF Michael Gambello, Emory Univ, Atlanta
283/4:30 Identification of RCBTB1 as novel disease gene for retinal ciliopathy. F. Coppieters, G. Ascari, M. Karlstetter, M. Bauwens, N. De Rocker, A. Boel, K. Vleminckx, M. Van der Eecken, B. P. Leroy, F. Meire, T. Langmann, E. De Baere. 284/4:45 The INVESTICATE project: Identification of New Variation, Establishment of Stem cells, and Tissue Collection Advancing Treatment Efforts. C. Ernst, W. Al-Hertani, N. Mechawar. 285/5:00 The Koolen-de Vries syndrome: A phenotypic comparison of microdeletion and point mutation patients. D. A. Koolen, R. Pfundt, B. P. Coe, J. Gecz, C. Romano, E. E. Eichler, B. B. A. de Vries, DDD Study, KdVS research group. 286/5:15 Exome sequencing suggests Aicardi Syndrome is genetically heterogeneous and not exclusive to females. I. Schrauwen, S. Szelinger, A. L. Siniard, J. J. Corneveaux, A. M. Claasen, R. F. Richholt, M. De Both, B. Hjelm, S. Rangasamy, N. Kulkarni, S. Bernes, J. Buchhalter, M. Russell, A. L. Courtright, K. Ramsey, D. W. Craig, V. Narayanan, M. Huentelman. 287/5:30 Targeted sequencing of 15 genes in a cohort of 169 patients with unexplained lissencephaly detects mutations in 37% of patients. N. Di Donato, AE. Timms, S. Collins, C. Adams, GM. Mirzaa, WB. Dobyns. 288/5:45 Integration of functional “omics” data uncovers mitochondrial deficiency in SmithMagenis syndrome. J. T. Alaimo, S. V. Mullegama, L. Chen, R. Masand, T. Donti, A. Besse, P. E. Bonnen, B. H. Graham, S. H. Elsea. 289/6:00 Mutations in DDX3X are a common cause of unexplained intellectual disability with genderspecific effects on Wnt signaling. L. Snijders Blok, E. Madsen, J. Juusola, C. Gilissen, D. Baralle, M. R. F. Reijnders, H. Venselaar, C. Helsmoortel, M. T. Cho, A. Hoischen, L. Vissers, T. S. Koemans, W. WissinkLindhout, E. E. Eichler, C. Romano, H. Van Esch, C. Stumpel, M. Vreeburg, E. Smeets, K. Oberndorff, B. W. M. van Bon, M. Shaw, J. Gecz, E. Haan, M. Bienek, C. Jensen, B. L. Loeys, A. Van Dijck, A. M. Innes, H. Racher, S. Vermeer.
NEW for 2015: ASHG will set up a secure slide-sharing website for oral presentations. This is an opt-in policy for speakers who wish to share their slides. Slides will be available a few weeks after the meeting. 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.
INVITED AND PLATFORM SESSIONS
Friday, October 9 4:30 PM–6:30 PM (SESSION 57, continued) 290/6:15 Mutations in TKT gene are a novel cause of short stature, developmental delay, and congenital heart defects. A. H. Begtrup, L. Boyle, M. M. C. Wamelink, G. S. Salomons, B. Roos, M. T. Cho, A. Dauber, J. Douglas, M. Feingold, S. Saitta, N. Kramer, J. Wynn, W. K. Chung.
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Friday, October 9 4:30 PM–6:30 PM Concurrent Platform Session E 58. Schizophrenia and Brain Development
Room 316, Level 3, Convention Center Moderators: Loyal Goff, Johns Hopkins Univ, Baltimore Karyn Meltz Steinberg, Washington Univ Genome Ctr, St. Louis 291/4:30 Deciphering phenotypic variability of genomic disorders using the 16p11.2 syndromes as a paradigm. K. Männik, A. M. Maillard, K. Popadin, L. Hippolyte, A. Pain, S. Martin-Brevet, A. Alfaiz, E. Migliavacca, J. Kosmicki, S. Lebon, B. Kolk, M. Noukas, A. Metspalu, M. M. van Haelst, M. J. Daly, N. Katsanis, J. S. Beckmann, S. Jacquemont, A. Reymond, 16p11.2 European Consortium, Simons VIP Consortium. 292/4:45 Modeling microcephaly using DNA repair defective induced pluripotent stem cells and cerebral organoids. F. Pirozzi, K. Plona, B. Ward, J. Ngo, T. H. Kim, E. Gilmore, A. Wynshaw-Boris. 293/5:00 3q29 deletion syndrome is associated with feeding problems, reduced birth weight, and a range of neuropsychiatric phenotypes: Results from the 3q29 registry. J. G. Mulle, M. Glassford, J. A. Rosenfeld, A. Freedman, E. McGarry, M. E. Zwick, Unique Rare Chromosome Disorder Support Group. 294/5:15 Schizophrenia risk gene MIR137 modulates neurodevelopment and behavior. Y. Cheng, W. Tan, Z. Teng, B. Bai, L. Lin, Y. Kang, Y. Li, B. Yao, X. Li, N. Xie, J. Peng, D. Chen, P. Jin. 295/5:30 A meta-analysis of >16,000 exomes reveals a dominant, highly penetrant subtype of schizophrenia comorbid with intellectual disability. T. Singh, J. C. Barrett, The UK10K Consortium, The DDD Study. 296/5:45 Schizophrenia associated variation in DPYSL2 perturbs mTOR signaling and produces cellular phenotypes. X. Pham, L. Liu, S. Guang, R. Wang, H. Zhu, A. Pulver, D. Valle, D. Avramopoulos.
298/6:15 Interrogating the mechanisms of schizophrenia genetic risk in the fully characterized human brain transcriptome. A. E. Jaffe, J. Shin, R. E. Straub, R. Tao, Y. Gao, Y. Jia, L. Collado-Torres, J. T. Leek, T. M. Hyde, J. E. Kleinman, D. R. Weinberger.
NEW for 2015: ASHG will set up a secure slide-sharing website for oral presentations. This is an opt-in policy for speakers who wish to share their slides. Slides will be available a few weeks after the meeting. 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.
INVITED AND PLATFORM SESSIONS
297/6:00 Somatic mutations in the MTOR gene cause focal cortical dysplasia type IIb. M. Nakashima, H. Saitsu, N. Takei, J. Tohyama, M. Kato, H. Kitaura, M. Shiina, H. Sirouzu, H. Masuda, K. Watanabe, C. Ohba, Y. Tsurusaki, N. Miyake, Y. Zheng, T. Sato, H. Takebayashi, K. Ogata, S. Kameyama, A. Kakita, N. Matsumoto.
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Friday, October 9 4:30 PM–6:30 PM Concurrent Platform Session E
Friday, October 9 4:30 PM–6:30 PM Concurrent Platform Session E
59. Metabolic Traits and Disease: Discovery and Function
60. The Ins and Outs of Blood Vessel Diseases
Room 318/321, Level 3, Convention Center Moderators: Karen Mohlke, UNC Chapel Hill Damien Croteau-Chonka, Brigham and Women’s Hosp, Boston 299/4:30 Large-scale exome chip association analysis identifies novel type 2 diabetes susceptibility loci and highlights candidate effector genes. A. Mahajan, on behalf of the ExT2D Exome Chip Consortium, for PROMIS, CHARGE and T2D-GENES/GoT2D. 300/4:45 Large scale exome array meta-analyses identify numerous novel common, low-frequency, and rare coding variant associations with glycaemia. S. Willems, on behalf of the Meta-Analyses of Glucose and Insulin-related traits Consortium. 301/5:00 Causal mechanisms and balancing selection inferred from genetic associations with polycystic ovary syndrome. F. Day, D. A. Hinds, J. Y. Tung, L. Stolk, U. Styrkarsdottir, R. Saxena, A. Bjonnes, L. Broer, D. B. Dunger, B. V. Halldorsson, D. A. Lawlor, G. Laval, I. Mathieson, W. L. McCardle, Y. Louwers, C. Meun, S. Ring, R. A. Scott, P. Sulem, A. G. Uitterlinden, N. J. Wareham, U. Thorsteinsdottir, C. Welt, K. Stefansson, J. S. E. Laven, K. K. Ong, J. R. B. Perry. 302/5:15 Genetic contributions to long-term severe obesity and leanness defined by electronic medical record phenotyping: A genome-wide association study. C. Schurmann, N. S. Abul-Husn, E. P. Bottinger, R. J. F. Loos. 303/5:30 Integrative personal’ omics profiling during periods of disease, weight gain, and loss. M. Snyder, B. Piening, W. Zhou, K. Contrepois, G. Gu, S. Leopold, K. Kukurba, T. Mishra, C. Craig, D. Perleman, E. Sodergren, B. Leopold, T. McLaughlin, G. Weinstock. 304/5:45 Causal FTO obesity variant represses adipocyte browning in humans. M. Kellis. 305/6:00 ExomeChip meta-analysis of 526,508 individuals from five ancestries identifies novel coding variation associated with body mass index. H. M. Highland, V. Turcot, Y. Lu, C. Schurmann, A. E. Justice, K. L. Young, J. Wang, P. Lenzini, M. Graff, 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 the BBMRI, GoT2D, CHARGE, and GIANT Consortia. 306/6:15 Clustering of exome variants from 6272 individuals with Type 2 diabetes identifies etiological convergence amongst four distinct populations and with other T2D genetic risk factors. C. Sandor, N. Beer, J. Fernandez, F. Honti, J. Steinberg, M. McCarthy, C. Webber, T2D-GENES Consortium, GoT2D Consortium.
Holiday Ballroom 1, 2nd Floor, Hilton Baltimore Hotel Moderators: Kiran Musunuru, Harvard Univ, Cambridge Patricia B. Munroe, Queen Mary Univ, London, UK 307/4:30 Genetic study identifies common variation in PHACTR1 to associate with fibromuscular dysplasia. N. Bouatia-Naji, SR. Kiando, N. Tucker, A. Katz, C. Treard, V. D’Escamard, LJ. Castro-Vega, C. Ye, E. Smith, C. Austin, C. Barlasina, D. Cusi, P. Galan, JP. Empana, X. Jouven, P. Bruneval, JW. Olin, HL. Gornik, PF. Plouin For ARCADIA, IJ. Kullo, DJ. Milan, SK. Ganesh, P. Boutouyrie, J. Kovacic, X. Jeunemaitre. 308/4:45 A rare synonymous variant in GFI1B associated with lower platelet counts reveals a role for alternative GFI1B splice forms in human hematopoiesis. P. Auer, R. Khajuria, J. Huang, U. Schick, J. Johnsen, N. Soranzo, A. Reiner, V. Sankaran. 309/5:00 Meta-analysis of rare and common exome chip variants identifies and replicates S1PR4 and other novel genes influencing blood cell traits. N. Pankratz, on behalf of the CHARGE Hematology Working Group. 310/5:15 Parent of origin genome-wide association studies (GWAS) of cardiovascular disease (CVD) associated phenotypes in the Hutterites. S. V. Mozaffari, J. DeCara, S. Shah, C. Herman, R. Lang, D. Nicolae, C. Ober. 311/5:30 Rare genetic variants inform blood pressure pathophysiology. P. Surendran, F. Drenos, R. Young, H. Warren, J. P. Cook, A. K. Manning, N. Grarup, X. Sim, D. Saleheen, F. W. Asselbergs, C. M. Lindgren, J. Danesh, L. V. Wain, A. S. Butterworth, J. M. M. Howson, P. B. Munroe, CHARGE+, T2D-GENES, GoT2DGenes, ExomeBP, CHD Exome+ Consortium. 312/5:45 Meta-analysis of gene-smoking interactions in blood pressure using 1000 Genomes imputed data from four ethnic groups. Y. Sung, T. Winkler, A. Bentley, M. Brown, T. Bartz, D. Chasman, R. Dorajoo, M. Fornage, N. Franceschini, X. Guo, C. Hayward, S. Kardia, K. Lohman, R. Loos, J. Marten, B. Tayo, C. van Duijn, W. Xu, I. Borecki, L. Cupples, D. Rao, A. Morrison, on behalf of the CHARGE GeneLifestyle Interactions Working Group. 313/6:00 Genome-wide study for blood metabolites identifies 62 loci and connects LPA with lipoprotein metabolism from a new perspective. J. Kettunen, on behalf of the MAGNETIC consortium.
NEW for 2015: ASHG will set up a secure slide-sharing website for oral presentations. This is an opt-in policy for speakers who wish to share their slides. Slides will be available a few weeks after the meeting. 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.
INVITED AND PLATFORM SESSIONS
Friday, October 9 4:30 PM–6:30 PM (SESSION 60, continued) 314/6:15 Characterisation of the metabolic impact of rare genetic variation within APOC3: Proton NMR based analysis of rare variant gene effects. N. J. Timpson, F. Drenos, J. Kettunen, P. Wurtz, P. Soininen, A. J. Kangas, A. Hingorani, T. Gaunt, J. P. Casas, M. Ala-Korpela, G. Davey Smith.
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Friday, October 9 4:30 PM–6:30 PM Concurrent Platform Session E 61. From Here to There: Reconstructing Human History Holiday Ballroom 4, 2nd Floor, Hilton Baltimore Hotel Moderators: Timothy O’Connor, Univ Maryland and Inst for Genome Sci, Baltimore Brenna Henn, Stony Brook Univ
315/4:30 Analysis of more than 800,000 genotypes from individuals born in the United States reveals trends in increasing genetic diversity during the 20th century. A. R. Kermany, M. Barber, J. Byrnes, P. Carbonetto, R. Curtis, J. Granka, E. Han, N. Myres, K. Noto, Y. Wang, C. Ball, K. Chahine. 316/4:45 Reconstructing the population history of New York City. G. M. Belbin, D. Ruderfer, E. A. Stahl, J. Jeff, Y. Lu, R. J. F. Loos, E. P. Bottinger, N. S. AbulHusn, A. Auton, E. E. Kenny. 317/5:00 Inference of super-exponential human population growth via efficient computation of the site frequency spectrum for generalized models. F. Gao, A. Keinan. 318/5:15 Genome-wide data on 34 ancient Anatolians identifies the founding population of the European Neolithic. I. Lazaridis, D. Fernandes, N. Rohland, S. Mallick, K. Stewardson, S. Alpaslan, N. Patterson, R. Pinhasi*, D. Reich*. 319/5:30 The evolutionary impact of Denisovan ancestry in Australo-Melanesians. S. Sankararaman, S. Mallick, N. Patterson, D. Reich, for The Simons Genome Diversity Project. 320/5:45 IBD sharing in the 1000 Genomes Project Phase 3 data reveals relationships from Neanderthals to present day families. G. Povysil, S. Hochreiter.
322/6:15 Polly: A novel approach for estimating local and global admixture proportion based on rich haplotype models. K. Noto, Y. Wang, M. Barber, J. Byrnes, P. Carbonetto, R. E. Curtis, E. Han, A. Kermany, N. Myres, C. A. Ball, K. Chahine.
NEW for 2015: ASHG will set up a secure slide-sharing website for oral presentations. This is an opt-in policy for speakers who wish to share their slides. Slides will be available a few weeks after the meeting. 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.
INVITED AND PLATFORM SESSIONS
321/6:00 Computational reconstruction of a haploid genome from the 18th century. A. Jagadeesan, E. D. Gunnarsdóttir, S. S. Ebenesersdóttir, V. B. Guðmundsdóttir, E. L. þórðardóttir, M. S. Einarsdóttir, J. Dugoujon, C. Fortes-Lima, F. Migot-Nabias, A. Massougbodji, G. Bellis, P. Triska, V. Cerny, L. Pereira, A. Kong, A. Helgason, K. Stefánsson.
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Friday, October 9 6:30 PM–6:35 PM 62. C.W. Cotterman Awards Announcement Ballroom I, Level 4, Convention Center
Each September, the editorial board of The American Journal of Human Genetics selects two articles that best represent outstanding contributions to the field of genetics. The two awards are presented for the best papers published in AJHG during the previous year on which the first author was either a pre- or postdoctoral trainee and is an ASHG member. The awards will be presented with a monetary award and plaque.
Friday, October 9 6:35 PM–6:40 PM 63. Announcement of the Finalists for the Charles J. Epstein Trainee Awards for Excellence in Human Genetics Research Ballroom I, Level 4, Convention Center
ASHG provides merit-based research awards for trainees (predoctoral and postdoctoral, including genetic counseling trainees) on the basis of submitted, competitive abstracts and on-site presentations at the 2015 Annual Meeting. This year’s 18 finalists will be acknowledged during the ASHG Policy Forum and Business Meeting.
Friday, October 9 6:40 PM–7:30 PM 64. ASHG Policy Forum and Business Meeting Ballroom I, Level 4, Convention Center
ASHG Policy Forum: The ASHG Social Issues Committee will review a draft positon statement on the ethical and policy implications of CRISPR-Cas9 technology and genome editing. The committee will solicit feedback and discussion from attendees. ASHG Membership/Business Meeting: The ASHG Board of Directors and committee chairs will present reports highlighting current Society business, including finances. This is an opportunity for members to learn about recent ASHG activities and to provide suggestions to the Society’s leadership. There will be a moment of silence for those members and colleagues we have lost since the 2014 Business Meeting. We encourage discussion from the floor.
NEW for 2015: ASHG will set up a secure slide-sharing website for oral presentations. This is an opt-in policy for speakers who wish to share their slides. Slides will be available a few weeks after the meeting. 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.
INVITED AND PLATFORM SESSIONS
Saturday, October 10 8:55 AM–10:15 AM 65. Featured Plenary Abstract Session II
Hall F, Level 1, Convention Center Moderator: Chris Gunter, 2015 Program Chair 323/8:55 An integrative model for predicting the regulatory impact of rare non-coding variants on the human transcriptome. Y. Kim, X. Lee, F. Damani, Z. Zappala, J. Davis, E. Tsang, S. B. Montgomery, A. J. Battle, The GTEx Consortium. 324/9:15 Genetic and epigenetic factors affecting regulatory elements underlie lactose intolerance and lactase persistence. R. Jeremian, V. Labrie, O. Buske, E. Oh, C. Ptak, G. Gasiunas, A. Maleckas, R. Petereit, A. Zvirbliene, K. Adamonis, E. Kriukiene˙ , K. Koncevicius, J. Gordevicˇius, A. Nair, A. Zhang, S. Ebrahimi, G. Oh, V. Siksnys, L. Kupcinskas, M. Brudno, A. Petronis. 325/9:35 Characterizing de novo balanced cytogenetic abnormalities through sequencing in 147 subjects with multiple congenital anomalies. C. Redin, H. Brand, R. L. Collins, V. Pillalamarri, C. Hanscom, T. Kammin, S. Pereira, B. B. Currall, Z. Ordulu, S. Althari, J. Shen, A. Ragavendran, E. C. Liao, E. Mitchell, J. C. Hodge, C. C. Morton, J. F. Gusella, M. E. Talkowski. 326/9:55 Adipose- and maternal- specific regulatory variants at KLF14 influence Type 2 Diabetes risk in women via a female-specific effect on adipocyte physiology and body composition. K. Small, M. Todorcevic, M. Civelek, J. El-Sayed Moustafa, A. Mahajan, M. Horikoshi, A. Hough, C. Glastonbury, G. Thorleifsson, L. Quaye, J. Fernandez, A. Buil, A. Vinuela, M. Yon, M. Simon, S. Sethi, J. Bell, B. Sharifi, U, Thorsteinsdottir, A. L. Gloyn, R. Cox, A. Lusis, F. Karpe, M. McCarthy.
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Saturday, October 10 10:30 AM–12:30 PM Concurrent Platform Session F 66. Computing Functional Variants
Ballroom I, Level 4, Convention Center Moderators: Xiaoquan Wen, Univ Michigan, Ann Arbor Chiara Sabatti, Stanford Univ 327/10:30 Single variant resolution association mapping of inflammatory bowel disease loci. H. Huang, L. Jostins, M. Fang, M. U. Mirkov, M. Georges, J. Barrett, M. J. Daly, the International IBD Genetics Consortium. 328/10:45 Genome sequencing of autism families reveals disruption in non-coding regulatory DNA. T. N. Turner, F. Hormozdiari, M. Duyzend, I. Iossifov, A. Raja, C. Baker, K. Hoekzema, H. A. Stessman, M. C. Zody, B. Nelson, J. Huddleston, R. Sandstrom, J. Smith, D. Hanna, M. Bamshad, J. Stamatoyannopoulos, D. A. Nickerson, R. Darnell, E. E. Eichler. 329/11:00 Fine mapping of psoriasis susceptibility loci: Enrichment of pro-inflammatory genomic marks in lymphocytes and keratinocytes. L. C. Tsoi, S. L. Spain, E. Ellinghaus, P. E. Stuart, T. Esko, T. Pers, X. Wen, F. Capon, J. Knight, T. Tejasvi, H. M. Kang, M. H. Allen, S. Weidinger, J. E. Gudjonsson, S. Koks, K. Kingo, A. Metspalu, G. G. Krueger, J. J. Voorhees, V. Chandran, C. F. Rosen, P. Rahman, D. D. Gladman, A. Reis, R. P. Nair, A. Franke, J.NWN Barker, G. R. Abecasis, R. C. Trembath, J. T. Elder. 330/11:15 Colocalization of eQTLs at WHRadjBMI GWAS loci with multiple association signals highlighted candidate functional genes for body fat distribution. Y. Wu, M. Civelek, C. K. Raulerson, A. He, C. Tilford, C. Fuchsberger, A. E. Locke, H. M. Stringham, A. U. Jackson, N. K. Saleem, N. Narisu, P. S. Chines, P. Gargalovic, T. Kirchgessner, F. S. Collins, M. Boehnke, M. Laakso, A. J. Lusis, K. L. Mohlke. 331/11:30 Fine-mapping GWAS loci containing extensive allelic heterogeneity reveals complex patterns of association. C. N. Spracklen, A. U. Jackson, H. M. Stringham, Y. Wu, M. Civelek, C. Fuchsberger, A. E. Locke, R. Welch, P. S. Chines, N. Narisu, A. J. Lusis, J. K. Kuusisto, F. S. Collins, M. Boehnke, M. Laakso, K. L. Mohlke.
333/12:00 Identifying critical cell types in complex traits from purified and single-cell expression using a polygenic model. D. Calderon, D. Golan, T. Raj, J. Pritchard. 334/12:15 Integrating genome-wide association and co-expression network data for novel gene discovery. C. R. Farber, L. D. Mesner, J. P. Stains, S. M. Tommasini, M. C. Horowitz, C. J. Rosen. NEW for 2015: ASHG will set up a secure slide-sharing website for oral presentations. This is an opt-in policy for speakers who wish to share their slides. Slides will be available a few weeks after the meeting. 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.
INVITED AND PLATFORM SESSIONS
332/11:45 Connecting the regulatory dots at the GWAS discovery phase. A. Madar, D. Chang, F. Gao, A. Sams, Y. Waldman, C. Cunninghame Graham, T. Vyse, A. Clark, A. Keinan.
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Saturday, October 10 10:30 AM–12:30 PM Concurrent Platform Session F
Saturday, October 10 10:30 AM–12:30 PM Concurrent Platform Session F
67. Opening Up Big Data
68. Statistical Genetics: Analyze Family-wise
335/10:30 DNA.Land: A community-wide platform to collect millions of genomes-phenomes. Y. Erlich, A. Gordon, N. Pearson, K. Shee, J. Pickrell.
343/10:30 Leveraging variant prioritization information in de novo mutation analysis to identify novel autism candidate genes. C. D. Huff, H. Hu, M. Li, H. Coon, M. Yandell.
Ballroom III, Level 4, Convention Center Moderators: Joe Pickrell, New York Genome Ctr Joanna Mountain, 23andMe, Inc, Mountain View
336/10:45 The European Variation Archive: Integrating open-access variation datasets. G. I. Saunders, J. D. Spalding, I. Medina Castello, C. Yenyxe Gonzalez, J. Kandasamy, F. J. Lopez, I. Lappalainen, J. Coll-Moragon, J. M. Mut Lopez, J. Paschall. 337/11:00 The Monarch Initiative: An open science integrated genotype-phenotype platform for disease and model organism discovery. M. A. Haendel, N. L. Washington, N. Vasilevsky, J. NguyenXuan, C. Condit, D. Smedley, M. Brush, S. Köhler, T. Groza, K. Shefchek, H. Hochheiser, S. E. Lewis, P. N. Robinson, C. J. Mungall, The Monarch Initiative. 338/11:15 iCLiKVAL: An open-access tool for adding value to scientific literature one annotation at a time through the power of crowdsourcing. T. D. Taylor, N. Kumar. 339/11:30 A practical guide to drug discovery through phenome-wide association studies. F. Sathirapongsasuti, D. A. Hinds, E. Karrer. 340/11:45 The Human Phenotype Ontology: Semantic unification of common and rare disease. P. Robinson, S. Köhler, D. Moldenhauer, N. Vasilevsky, G. Baynam, T. Zemojtel, L. Schriml, W. Kibbe, P. Schofield, T. Beck, D. Vasant, A. Brookes, A. Zankl, N. Washington, C. Mungall, S. Lewis, M. Haendel, H. Parkinson, T. Groza. 341/12:00 Imputation in the cloud: Lessons learned and future directions. C. Fuchsberger, L. Forer, S. Schönherr, D. Sayantan, F. Kronenberg, G. Abecasis.
Room 307, Level 3, Convention Center Moderators: John Witte, UCSF Yun Ju Sung, Washington Univ, St. Louis
344/10:45 SimDenovo: A simulation toolkit to understand the variability in de novo mutation burden in human disease. V. Aggarwala, B. F. Voight. 345/11:00 Relationship inference in big genetic data with >100,000 samples. W.-M. Chen, A. Manichaikul, S. S. Rich. 346/11:15 Mixed model association with familybiased case-control ascertainment. T. Hayeck, N. Zaitlen, P. Loh, A. Gusev, N. Patterson, A. Price. 347/11:30 Dissecting a major linkage signal to identify potential causal variants for serum triglycerides in a founder population. W.-C. Hsueh, A. K. Nair, S. Kobes, L. J. Baier, R. L. Hanson. 348/11:45 Systematic and large-scale investigation of twin and sibling concordance of 1723 traits in a nationally representative health claims cohort. C. M. Lakhani, J. Yang, P. M. Visscher, C. J. Patel. 349/12:00 Heritability estimates for thirty-four traits in a large Ugandan cohort. D. Heckerman, D. Gurdasani, C. Pomilla, R. Nsubuga, C. Kadie, C. Widmer, M. Sandhu. 350/12:15 Leveraging whole genome sequencing in an internal study-specific imputation reference panel for family-based designs. K. Iyer, L. R. Yanek, M. A. Taub, I. Ruczinski, D. Becker, L. Becker, R. A. Mathias.
342/12:15 LARVA: An integrative framework for Large-scale Analysis of Recurrent Variants in noncoding Annotations. M. Gerstein, L. Lochovsky, J. Zhang, Y. Fu, E. Khurana.
NEW for 2015: ASHG will set up a secure slide-sharing website for oral presentations. This is an opt-in policy for speakers who wish to share their slides. Slides will be available a few weeks after the meeting. 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.
INVITED AND PLATFORM SESSIONS
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Saturday, October 10 10:30 AM–12:30 PM Concurrent Platform Session F
Saturday, October 10 10:30 AM–12:30 PM Concurrent Platform Session F
69. The Causes and Consequences of Evolutionary Change
70. Precision Cancer Sequencing
Room 309, Level 3, Convention Center Moderators: Kirk Lohmueller, UCLA Sohini Ramachandran, Brown Univ, Providence
Room 316, Level 3, Convention Center Moderators: Dayna Oschwald, New York Genome Ctr, Rockaway Park David Wheeler, Baylor Col of Med, Houston
351/10:30 Combined analysis of over 60,000 exomes: Genic constraint, widespread mutational recurrence, and impact on clinical variant interpretation. D. MacArthur, Exome Aggregation Consortium.
359/10:30 The importance of assaying the matched normal when sequencing cancer genomes. E. Helman, M. Clark, R. Alla, D. Church, S. Boyle, A. Patwardhan, S. Luo, J. Harris, N. Leng, C. Haudenschild, R. Chen, J. West.
352/10:45 Population differentiation analysis of 54,734 European Americans reveals independent evolution of ADH1B gene in Europe and East Asia. K. J. Galinsky, G. Bhatia, P. Loh, S. Georgiev, S. Mukherjee, N. J. Patterson, A. L. Price.
360/10:45 Insights into somatic mutation-driven cancer genome evolution: A study of 3,000 cancer genomes across 9 cancer types. Z. Zhao, F. Cheng.
353/11:00 A direct estimate for the human mutation rate from autozygous sequences in thousands of parentally related pedigrees. V. Narasimhan, R. Rahbari, A. Scally, Y. Xue, C. Tyler-Smith, R. Durbin. 354/11:15 Leveraging distant relatedness to quantify human mutation and gene conversion rates. P. Palamara, L. Francioli, G. Genovese, P. Wilton, A. Gusev, H. Finucane, S. Sankararaman, S. Sunyaev, P. DeBakker, J. Wakeley, I. Pe’er, A. Price, The Genome of the Netherlands Consortium. 355/11:30 Genetic diversity on the human X chromosome suggests there is no single pseudoautosomal boundary. M. Wilson Sayres, D. Cotter, S. Brotman. 356/11:45 Comparative epigenomic analysis of regulatory elements in primate stem cells. I. Narvaiza, C. Benner, M. Wang, M. C. Marchetto, M. Ku, T. Swigut, J. Wysocka, F. H. Gage.
358/12:15 High-coverage RNA sequencing reveals substantial variation associated with geography, environment, and endophenotypic variation. M.J. Fave, A. J. Hodgkinson, J.P. Goulet, J.C. Grenier, H. Gauvin, V. Bruat, T. de Maillard, E. Gbeha, E. Hip-Ki, Y. Idhagdour, P. Awadalla.
362/11:15 Insights, mechansims, and fundamental significance of copy-neutral loss of heterozygosity detected in oncology samples. S. Schwartz, B. Williford, R. Burnside, I. Gadi, V. Jaswaney, A. Penton, K. Phillips, H. Risheg, J. Schleede, J. Tepperberg, P. Papenhausen. 363/11:30 Genomic analysis reveals novel secondary drivers and progression pathways in skin basal cell carcinoma. X. Bonilla, L. Parmentier, B. King, G. Kaya, H. J. Sharpe, T. McKee, V. Zoete, P. G. Ribaux, F. A. Santoni, K. Popadin, M. Guipponi, M. Garieri, C. Verdan, K. Grosdemange, O. Sumara, M. Eilers, F. J. de Sauvage, I. Aifantis, O. Michielin, S. E. Antonarakis, S. I. Nikolaev. 364/11:45 Recurrent somatic mutation in the MYC associated factor X in brain tumors. H. Nikbakht, M. Montagne, N. Jabado, P. Lavigne, J. Majewski. 365/12:00 The driver landscape of parathyroid carcinoma. C. Pandya, A. V. Uzilov, J. Bellizzi, S. D. Li, W. Yu, M. Stevenson, B. Cavaco, B. T. Teh, R. V. Thakker, H. Morreau, A. Arnold, R. Chen. 366/12:15 Epigenomic profiling of prostate cancer identifies differentially methylated genes in TMPRSS2:ERG fusion positive versus negative tumors. M. S. Geybels, J. J. Alumkal, I. M. Shui, M. Bibikova, B. Klotzle, M. Rinckleb, A. Luedeke, C. Maier, E. A. Ostrander, J. Fan, Z. Feng, J. L. Stanford.
NEW for 2015: ASHG will set up a secure slide-sharing website for oral presentations. This is an opt-in policy for speakers who wish to share their slides. Slides will be available a few weeks after the meeting. 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.
INVITED AND PLATFORM SESSIONS
357/12:00 Transcriptome diversity associated with ancestry and diet in ethnically diverse East African populations. N. G. Crawford, Y. Ren, R. A. RawlingsGoss, G. R. Grant, H. Hutton, M. Yeager, S. Chanock, A. Ranciaro, S. Thompson, J. Hirbo, W. Beggs, T. Nyambo, S. Omar, D. Meskel, G. Belay, C. Brown, H. Li, S. A. Tishkoff.
361/11:00 Systematic analysis of mutation distribution in three dimensional protein structures identifies cancer driver genes. A. Fujimoto, Y. Okada, K. Boroevich, T. Tsunoda, H. Taniguchi, H. Nakagawa.
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Saturday, October 10 10:30 AM–12:30 PM Concurrent Platform Session F
Saturday, October 10 10:30 AM–12:30 PM Concurrent Platform Session F
71. New Insights in Gene Regulation
72. Inborn Errors of Metabolism: Novel Disorders, Models, and Observations
Room 318/321, Level 3, Convention Center Moderators: Michael Talkowski, Harvard Med Sch, Cambridge Vivian Cheung, Univ of Michigan, Ann Arbor 367/10:30 Large-scale inference of activating and repressive nucleotides in human cell types using tiling reporter assays. J. Ernst, T. S. Mikkelsen, M. Kellis. 368/10:45 Full-length mRNA sequencing uncovers a widespread coupling between transcription and mRNA processing. S. Y. Anvar, E. de Klerk, M. Vermaat, J. T. den Dunnen, S. W. Turner, P. A. C. Hoen. 369/11:00 The role of RNA polymerase II pausing in the mediation of human gene expression. J. Boden, V. G. Cheung. 370/11:15 Reappraising the protein-coding potential of GENCODE using high stringency mass spectrometry. J. M. Mudge, J. Wright, J. Choudhary, J. Harrow. 371/11:30 Post-translational mechanisms buffer protein abundance against transcriptional variation. S. C. Munger, J. M. Chick, P. Simecek, E. L. Huttlin, K. B. Choi, D. M. Gatti, N. Raghupathy, K. L. Svenson, S. P. Gygi, G. A. Churchill. 372/11:45 Convergence of genes and pathways influencing neurodevelopment following suppression of ASD-associated chromatin modifiers and transcriptional regulators in human neural progenitor cells. S. Erdin, A. Sugathan, P. Manavalan, K. M. Hennig, S. D. Sheridan, C. M. Seabra, A. Stortchevoi, A. Ragavendran, M. Biagioli, S. J. Haggarty, J. F. Gusella, M. E. Talkowski. 373/12:00 High-throughput analysis of geneenvironment interactions across 250 cellular conditions. F. Luca, G. Moyerbrailean, O. Davis, C. Harvey, A. Alazizi, D. Watza, X. Wen, R. Pique-Regi. 374/12:15 Functional dissection of BCL11A enhancer by Cas9-mediated in situ saturation mutagenesis. M. C. Canver, E. C. Smith, F. Sher, L. Pinello, N. E. Sanjana, O. Shalem, D. D. Chen, P. G. Schupp, D. S. Vinjamur, S. Garcia, S. Luc, Y. Fujiwara, T. Maeda, G. C. Yuan, F. Zhang, S. H. Orkin, G. Lettre, D. E. Bauer.
Holiday Ballroom 1, 2nd Floor, Hilton Baltimore Hotel Moderators: Seymour Packman, UCSF Kristina Cusmano-Ozog, Children’s Nat Med Ctr, Washington, DC 375/10:30 NGLY1 disease causes mitochondrial respiratory chain dysfunction and induction of oxidative stress. J. Kong, M. Peng, E. NakamaruOgiso, M. He, J. Ostrovsky, Y-.J. Kwon, E. McCormick, T. Suzuki, Y. Argon, M. J. Falk. 376/10:45 Mutations in pyruvate dehydrogenase phosphatase regulatory subunit (PDPR) are a novel cause of fatal neonatal cardio-encephalopathy with corneal clouding and lactic acidosis. J. Christodoulou, M. Nafisinia, J. Crawford, R. M. Brown, G. K. Brown, M. H. Menezes, L. G. Riley, W. A. Gold, R. J. Taft, C. Simons. 377/11:00 Signal transducer and activator of transcription 2 (STAT2) deficiency is a novel disorder of mitochondrial fission. R. Shahni, C. M. Cale, G. Anderson, L. D. Osellame, S. Hambleton, T. S. Jacques, Y. Wedatilake, J. W. Taaman, E. Chan, W. Qasim, V. Plagnol, A. Chalasani, M. R. Duchen, K. C. Gilmour, S. Rahman. 378/11:15 Smith-Lemli-Opitz Syndrome iPS cells demonstrate abnormal neuronal differentiation due to 7-dehydrocholesterol impairment of Wnt/β-Catenin signaling. F. D. Porter, A. N. Ton, C. A. Wassif, Y. Xin, P. E. O’Halloran, N. Malik, C. Cluzeau, I. M. Williams, N. S. Trivedi, W. J. Pavan, W. Cho, H. Westphal, K. R. Francis. 379/11:30 A mouse model of cblC deficiency displays reduced survival, growth retardation, and combined methylmalonic acidemia and hyperhomocysteinemia. M. Arnold, J. Sloan, N. Achilly, G. Elliot, J. Fraser, B. Brooks, C. Venditti. 380/11:45 Defects in SLC33A1 impair copper ATPase trafficking and contribute to the clinical and biochemical phenotypes of Huppke-Brendel syndrome. L. Yi, W. H. Tan, P. Huppke, S. G. Kaler. 381/12:00 Inhibition of CTR1 by antisense oligonucleotides in mouse model of Wilson’s disease reduces copper accumulation and improves liver pathology. T. R. Grossman, R. B. Johnson, G. Hung, B. P. Monia, M. McCaleb. 382/12:15 B4GALNT1 deficiency as a cause of hereditary complex movement disorder with Parkinsonism features: A new inborn error of metabolism affecting glycosphingolipid biosynthesis. C. Lourenco, M. Almeida, C. Leprevost, Y. Anikster, W. Marques Jr.
NEW for 2015: ASHG will set up a secure slide-sharing website for oral presentations. This is an opt-in policy for speakers who wish to share their slides. Slides will be available a few weeks after the meeting. 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.
INVITED AND PLATFORM SESSIONS
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Saturday, October 10 10:30 AM–12:30 PM Concurrent Platform Session F 73. Intellectual Ability and Disability
Holiday Ballroom 4, 2nd Floor, Hilton Baltimore Hotel Moderators: Alicia Smith, Emory Univ, Atlanta Adam Locke, Univ of Michigan, Ann Arbor
390/12:15 Single-cell RNA-Seq of human CajalRetzius neurons in developing brain. J. Kim, M. Lin, R. Dominguez, T. Souaiaia, C. Walker, A. Camarena, J. Nguyen, J. Herstein, M. Francois, W. Mack, J. Rossen, C. Liu, O. Evagrafov, R. Chow, J. A. Knowles.
383/10:30 74 SNPs associated with education provide insights into brain function and disorders. J. J. Lee, T. Esko, Social Science Genetic Assn Consortium. 384/10:45 Biallelic mutations in human accelerated regions (HARs) are associated with abnormal social and cognitive behavior. R. N. Doan, B. I. Bae, M. Nieto, B. Cubelos, S. Al-Saad, N. M. Mukaddes, C. A. Walsh, The Homozygosity Mapping Consortium for Autism. 385/11:00 B56-related protein phosphatase 2A dysfunction identified in patients with intellectual disability. G. Houge, D. Haesen, L. E. L. M. Vissers, S. Mehta, M. J. Parker, M. Wright, J. Vogt, S. McKee, N. Cordeiro, T. Kleefstra, M. H. Willemsen, M. R. F. Reijnders, S. Berland, E. Hayman, E. Lahat, E. H. Brilstra, C. L. I. van Gassen, E. Zonneveld-Huijssoon, C. I. de Bie, A. Hoischen, E. E. Eichler, R. Holdhus, V. M. Steen, S. O. Døskeland, D. E. FitzPatrick, M. E. Hurles, V. Janssens, DDD project, Welcome Trust Sanger Inst, Cambridge, UK. 386/11:15 Clinical indexing genes affected by copy number variation in neurodevelopmental disorders. M. Uddin, G. Pellecchia, D. Merico, B. Thiruvahindrapuram, M. Zarrei, T. Nalpathamkalam, K. Tammimies, M. Gazzellone, R. K. C. Yuen, S. Walker, A. Chan, L. D’Abate, A. Noor, M. T. Carter, G. Yoon, P. Kannu, C. R. Marshall, M. Speevak, D. J. Stavropoulos, S. W. Scherer. 387/11:30 Functional characterization of novel DEAF1 mutations in clinical whole-exome sequencing of intellectual disability patients and its regulation of the RAI1 gene. L. Chen, P. Jensik, M. Walkiewicz, J. T. Alaimo, S. V. Mullegama, S. H. Elsea.
389/12:00 WD-repeat 47 is essential for the normal brain development through interaction with SCG10 in tubulin-associated processes. M. Kannan, M. Roos, L. McGillewie, C. Wagner, C. Chevalier, U. K. Sanger Mouse Genetics Project, G. Grenningloh, C. Kinnear, Y. Herault, B. Loos, B. Yalcin.
NEW for 2015: ASHG will set up a secure slide-sharing website for oral presentations. This is an opt-in policy for speakers who wish to share their slides. Slides will be available a few weeks after the meeting. 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.
INVITED AND PLATFORM SESSIONS
388/11:45 Investigating the transcriptome wide impact of expanded polyalanine tract mutations in ARX contributing to intellectual disability and seizures. C. Shoubridge, K. Lee, J. Gecz, T. Mattiske.
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Saturday, October 10 1:45 PM–3:45 PM Concurrent Invited Sessions II
Saturday, October 10 1:45 PM–3:45 PM Concurrent Invited Sessions II
74. Gene Editing/Rewriting the Genome: Moving from Association to Biology and Therapeutics
75. Genetic Control of the Microbiome
Ballroom III, Level 4, Convention Center Moderator: Stephen H. Tsang, Columbia Univ, New York
In the current era of personalized medicine, we have identified a large number of genetic variants in patients with various diseases using next-generation sequencing. Recent advances in genetic engineering, genotyping, high-resolution imaging, and biomarker testing have made it easier to deliver the right treatments to the right patients at the right time. These tools are the future of patient care: A personalized medicine approach. Speakers will discuss applications of patient-specific and disease-specific stem cell lines, including gene repair (via tools such as the Cas9 nuclease), disease modeling, drug screening, and regenerative medicine. Panelists will bring experience in clinical genetics, genetic manipulation in stem cells, and disease modeling. The FDA has recently approved phase I/II clinical trials to investigate the safety and efficacy of embryonic stem cell-based retinal cell transplantation, but such therapies require immunosuppression. Patient-specific stem cells may offer an alternative to embryonic stem cells that will skirt the need for immunosuppressive therapy as well as the social and political ramifications of embryonic stem cell research, but their utility extends far beyond such groundbreaking advances and will assist future clinical practice and patient care. 1:45 PM Treating dominantly inherited brain diseases. B. L. Davidson. Children’s Hosp Philadelphia.
2:15 PM CRISPR-Cas9-mediated mouse model generation with high efficiency and throughput. H. Wang. Jackson Lab, Bar Harbor. 2:45 PM iPS technology, gene editing, and disease research. R. Jaenisch. Whitehead Inst, Massachusetts Inst Technol, Cambridge. 3:15 PM The dynamics of pluripotent stem cells define the individual biology of human genomes. R. McKay. Johns Hopkins Univ, Baltimore.
Room 307, Level 3, Convention Center Moderator: George Weinstock, Jackson Lab for Genomic Med, Farmington The communities of microbes (bacteria, viruses, and eukaryotic microbes) that inhabit various tissues of the body affect and are affected by their host. Yet the microbiome has traditionally been thought of as a collection of innocuous organisms that can be ignored in studies of health and disease. Taking the microbiome into account may be important for accurate phenotype-genotype analysis due to the increasing awareness of the impact the microbes have on different body sites, through the products they produce, their ability to protect against invading organisms, their direct interaction with the cell structures and the extracellular milieu, provoking inflammatory or immune responses, and many other effects. The microbiome thus contributes in many ways to the host phenotype and is itself a phenotypic characteristic to be measured. Variation in microbiome structure due to diet, health status, age, and other factors is being studied extensively, but the effect of host genotype is less well described. However, there are a growing number of examples where the impact of the host genotype on the microbiome has been described, and these serve as precedents for a deeper understanding of the genetic interaction of the host and microbiome. In this session, we will present four examples of the influence of host genotype on the microbiome, and the impact of the microbiome on host phenotype. 1:45 PM Assessment of effects of microbiome composition on pediatric fatty liver disease. N.H Salzman. Medical College of Wisconsin.
2:15 PM Host-microbiome interactions through the lens of quantitative genomics. A. Benson. Univ Nebraska, Lincoln. 2:45 PM Human host genetics and regulation of the gut microbiome. R. Ley. Cornell Univ, Ithaca. 3:15 PM Personal microbiomes in health and disease. M. Snyder. Stanford Univ, Stanford.
NEW for 2015: ASHG will set up a secure slide-sharing website for oral presentations. This is an opt-in policy for speakers who wish to share their slides. Slides will be available a few weeks after the meeting. 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.
INVITED AND PLATFORM SESSIONS
Saturday, October 10 1:45 PM–3:45 PM Concurrent Invited Sessions II
Saturday, October 10 1:45 PM–3:45 PM Concurrent Invited Sessions II
76. Integrating Genomes and Transcriptomes to Understand Human Disease
77. Life Beyond Additive Variance
Hall F, Level 1, Convention Center Moderators: Michael J. Clark, Personalis, Menlo Park Tuuli Lappalainen, New York Genome Ctr, New York As sequencing technologies have advanced, DNA and RNA sequencing have become increasingly accessible, facilitating the growth of the human genomics field. Generally research is focused on DNA or RNA rather than both, and rarely are the two analyzed together in an integrated fashion. Often, RNA is thought of as the source of expression data while DNA is the source of mutational information. However, there is an increasing recognition that integrated co-analysis of DNA and RNA allows one to paint a much fuller picture of the molecular genetic state of the cells being studied. Novel DNA variants predicted to be deleterious may not be expressed, which would be missed without RNA analysis. There may be DNA evidence for gene fusions in the form of translocations, but structural variant calling is prone to false positives, so fusion isoforms from RNA are invaluable. DNA variants in putative regulatory elements may not be interpretable without observing the effect on transcription. In this session, we will discuss methods for integrated analysis of DNA and RNA and their application in human genomic research in the areas of cancer genomics, human disease research, and regulation of gene expression. 1:45 PM Correlative power of DNA to RNA in cancer genomics. E. Mardis. Washington Univ Sch Med, St Louis.
2:15 PM Identifying rare and causal non-coding variants through transcriptome sequencing. S. Montgomery. Stanford Univ Sch Med, Stanford. 2:45 PM DNA and RNA integrated analysis in cancer and other disease. D. Hayes. UNC Chapel Hill.
Room 316, Level 3, Convention Center Moderators: Julien F. Ayroles, Princeton Univ Andrew G. Clark, Cornell Univ, Ithaca The current quantitative genetic paradigm is driven by a prevailing view that additive genetic models, focused on the mean effect of alternative alleles, adequately explain variation for most phenotypes. This has led to the identification of a long list of genetic variants contributing to the risk of complex diseases. Unfortunately, a decade after the popularization of GWAS and in spite of much effort, we have fallen short of the goal of explaining most of the heritability for complex traits in terms of allelic effects. This approach is designed to describe the average effect of an allele randomized over a large number of genetic backgrounds and environments. But each individual has faced a unique trajectory of environmental insults, some of which may have quite large genotype-specific effects. Extensive study of agricultural and laboratory model organisms have shown that the genotype-phenotype map is much more complicated than Fisher’s additive model would predict. When measurements can be made with reasonable control of the environment, complex, non-additive interrelationships between loci appear to be the rule and not the exception. Furthermore, these allelic effects are often environmentally sensitive. The paradigm derived from traditional quantitative genetics is at odds with a major goal of medical genetics as we often seek to understand the causal path from genotype to phenotype for individuals and not populations. In this context, the notion of heritability needs to be revisited to be meaningful for medical genetics. When the average allelic effect does not capture a specific allelic effect under certain conditions, whether due to genetic background or environmental effects, current methods will not detect the link between genotype and phenotype. The difficulties faced by the human genetics community to explain the genetic basis of complex traits underscores a fundamental knowledge gap in our understanding of the context dependency of allelic effects. 1:45 PM Heritability and individual prediction. A. G. Clark. Cornell Univ, Ithaca.
2:15 PM Obesity, a case for gene by environment interactions. P. Pajukanta. UCLA. 2:45 PM Exploring the contribution of varianceQTL to phenotypic variation. J. F. Ayroles. Princeton. 3:15 PM Genetic control of transcription in human immune response. C. Ye. UCSF.
NEW for 2015: ASHG will set up a secure slide-sharing website for oral presentations. This is an opt-in policy for speakers who wish to share their slides. Slides will be available a few weeks after the meeting. 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.
INVITED AND PLATFORM SESSIONS
3:15 PM Integrated analysis of transcriptome and genotype data for understanding non-coding variation. A. Battle. Johns Hopkins Univ, Baltimore.
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INVITED AND PLATFORM SESSIONS
Saturday, October 10 1:45 PM–3:45 PM Concurrent Invited Sessions II
Saturday, October 10 1:45 PM–3:45 PM Concurrent Invited Sessions II
78. Multiplexed and Multimodal Experimental Dissection of Genetic Variants
79. Optimizing Clinical and Molecular Characterisation and Management in Skeletal Dysplasias: An Exemplary Model for Rare Genetic Diseases.
Ballroom I, Level 4, Convention Center Moderators: Jay Shendure, Univ Washington, Seattle Melina Claussnitzer, Harvard Med Sch & Broad Inst MIT & Harvard, Cambridge Genome-wide association studies (GWAS) have yielded thousands of reproducible genotypephenotype associations. In the past few years, functional genomics, epigenomics, and regulatory genomics datasets have begun to drive the formulation and testing of mechanistic hypotheses that link specific genetic variants within implicated loci to human traits and phenotypes. However, such experimental validations of GWAS associations are overwhelmingly lacking, in large part due to technological limitations on the throughput of the requisite methods. This has resulted in a dearth of experimentally-validated disease models for noncoding variants in particular, despite their central importance in complex trait genetics. As a result, the major mechanisms that underlie the contributions of non-coding variants to the genetic basis of human disease have yet to be clearly established. In this session, we will describe cutting-edge approaches to experimentally validate, in a high-throughput manner, candidate mechanisms underlying observed genotype-phenotype associations. These advances represent the next generation of functional genomic approaches, and raise practical questions for the field regarding the levels of evidence that are required to convincingly establish causality. The session will also highlight the importance of coordinating progress between computational and experimental strategies for determining the genetic underpinnings of disease. 1:45 PM New experimental approaches to the large-scale functional analysis of observed and potential genetic variation. J. Shendure. Univ Washington, Seattle.
2:15 PM Network based elucidation and validation of causal genomic variants. A. Califano. Columbia Univ, New York. 2:45 PM Experimentally validating regulatory mechanisms underlying human disease. T. Reddy. Duke Univ, Durham. 3:15 PM Mechanistic dissection of metabolic risk variants across multiple phenotypic scales. M. Claussnitzer. Harvard Med Sch & Broad Inst MIT & Harvard, Cambridge.
Room 327, Level 3, Convention Center Moderators: Melita D. Irving, Guy’s & St Thomas’ NHS Fdn Trust, London, UK Ravi Savarirayan, Murdoch Childrens Res Inst, Parkville, Melbourne, Australia
The skeletal dysplasias are a group of individually rare but collectively common heritable disorders of skeletal development, growth, and maintenance that present from before birth to adulthood. They serve as a model for many other rare genetic disorders, in terms of the need for accurate clinical and molecular characterization, evidence-based management, and the emerging possibility of pathogenesisbased treatments. Early and accurate diagnosis of these disorders has been greatly facilitated by the widespread clinical application of high-throughput genomic sequencing, leading to increased diagnostic rates in these rare conditions. Resolution of diagnostic uncertainty enables focus to shift towards improving management, including new treatment regimes that have the potential to change natural history and burden of disease. Liaison between clinical and basic sciences can be utilized to achieve this, including maximizing the potential of genomic data to tailor individualized treatments, collecting natural history information to identify disorder-specific management requirements, developing new therapeutic approaches through improved knowledge of molecular pathways and protein network interactions, and testing potential new drugs via well-conducted clinical trials. This session will focus on skeletal dysplasias as a model for rare genetic diseases, highlighting tools for collecting natural history data and healthcare needs data; key diagnostic clinical and molecular features; and management, including novel emerging diseasemodifying treatments based on better understanding of molecular pathogenesis. The concepts and advances presented that are unfolding in this group of disorders can be extrapolated to many other rare genetic diseases that might benefit from these “bedside to bench, and back again” approaches. 1:45 PM Osteogenesis Imperfecta: How an advocacy group initiative established collaborative research for a rare disease, advanced knowledge and care, and fostered an NIH Rare Disease Clinical Research Network to investigate brittle bone diseases. V. Sutton. Baylor Col Med/Texas Children’s Hosp, Houston.
NEW for 2015: ASHG will set up a secure slide-sharing website for oral presentations. This is an opt-in policy for speakers who wish to share their slides. Slides will be available a few weeks after the meeting. 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.
INVITED AND PLATFORM SESSIONS
Saturday, October 10 1:45 PM–3:45 PM (SESSION 79, continued)
Saturday, October 10 1:45 PM–3:45 PM Concurrent Invited Sessions II
2:15 PM From emerging new therapies in children to defining and implementing healthcare needs in adults: Cradle to grave management in Achondroplasia. M. D. Irving. Guy’s & St Thomas’ NHS Fdn Trust, London, UK.
80. Research Partners, Not Subjects: Engaging Indigenous Peoples in Genetics
2:45 PM The Skeletal Dysplasia Management Consortium (SDMC): An international, multidisciplinary approach to improve clinical outcome for skeletal dysplasia patients. J. Hoover-Fong. Johns Hopkins Univ, Baltimore. 3:15 PM Morquio disease and hypophosphatasia: Templates for the journey from disease characterization to life-changing therapeutic management. R. Savarirayan. Murdoch Childrens Res Inst, Parkville, Melbourne, Australia.
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Holiday Ballroom 4, 2nd Floor, Hilton Baltimore Hotel Moderators: Rene L. Begay, Univ Colorado, Aurora Julian R. Homburger, Stanford Univ American Indian/Alaska Native (AI/AN) indigenous people consistently suffer worse health outcomes than any minority group in part because they are severely underrepresented in research and, consequently, may be omitted from developments in new genetic technologies and clinical advancements. This disengagement from research participation is a result of past unethical practices by researchers. There is also a concern that a lack of respect for cultural differences persists. This can only serve to exacerbate the health disparities gap as healthcare moves towards precision medicine. Further, disengagement with and from AI/AN communities inhibits our understanding of human diversity. This trainee-led session will provide an overview of the current state of health disparities in genomics research and the research designs/ ethical conflicts faced in the past that caused AI/ AN communities to become wary of researchers. Suggestions in advocating culturally-sensitive constructs to begin research dialogues with Tribal nations will be discussed. Highlights include examples of community-based participatory research models, an introduction towards Tribally-driven research in American Indian Tribal nations, difficulties studying urban and unrecognized AI/AN communities, and the changing partnership between researchers involving biopolitics over time. All discussions will be framed in the light of reducing healthcare disparities in the context of precision medicine, and topics discussed can be broadened to apply to other underrepresented research communities. Native American geneticists and an ethicist who works with Alaskan Native people will lead this discussion, with balanced moderation by Native and non-Native clinical geneticists. Hence, panelists (all trainees) are intimately cognizant of the biopolitical and social issues at hand.
2:15 PM IndiGenomics: Indigenizing genomics technologies. K. Fox. Univ Washington, Seattle. 2:45 PM Staying for tea: An example of community-engaged genetic research. K. M. West. Univ Washington, Seattle. 3:15 PM Whose risk? A comparison of common and uncommon inheritance, risk, and benefits in genomic research. J. Yracheta. Missouri Breaks Industries, Inc, Eagle Butte. NEW for 2015: ASHG will set up a secure slide-sharing website for oral presentations. This is an opt-in policy for speakers who wish to share their slides. Slides will be available a few weeks after the meeting. 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.
INVITED AND PLATFORM SESSIONS
1:45 PM The sovereign power of American Indian communities to engage or disengage in genetics research. K. S. Tsosie. Vanderbilt Univ, Nashville.
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INVITED AND PLATFORM SESSIONS
Saturday, October 10 1:45 PM–3:45 PM Concurrent Invited Sessions II
Saturday, October 10 1:45 PM–3:45 PM Concurrent Invited Sessions II
81. The Landscape of de novo Point Mutations in the Human Genome: How Many, Where, When and Why?
82. Translating Genomic Knowledge into Clinical Practice
Room 309, Level 3, Convention Center Moderators: Alexander Hoischen, Radboud Univ Med Ctr, Nijmegen, Netherlands Gil McVean, Univ Oxford, UK Mutations, the fundamental process by which genomic variation is acquired, fuel evolution and are at the origin of all genetic disease. Hence, defining the mechanisms that control their occurrence is crucial to our basic understanding of genome biology, evolution, and disease mechanisms. Accurate models of mutation rate are also expected to inform diseasegene discovery studies that rely on recurrent de novo mutations. Traditionally, mutation rates have been inferred from evolutionary comparisons or extrapolated from the study of specific loci, but it is now possible to directly assess the mutation rate on a genome-wide basis, using whole-genome sequencing of family trios. These studies concur that 30-100 new point mutations are acquired at each generation, corresponding to a mutation rate of 1.2 x 10-8 per nucleotide. Importantly, this figure only represents a genome-wide average and it is well-recognized that the mutation rate fluctuates across the genome and between individuals. Factors such as local sequence context, replication timing, transcriptional status or paternal age at conception are known to bias the occurrence of spontaneous mutations. Moreover, given that point mutations are acquired through DNA copy-errors (and/or failure of DNA damage repair mechanisms) during replication, preferentially within the paternal germline, a detailed knowledge of these basic biological processes is key to understanding the patterns of nucleotide substitutions. This session will draw on novel insights into the factors driving the occurrence of de novo point mutations in the germline to highlight how variation in mutation rate is predicted to impact genome heterogeneity and mutation functions. 1:45 PM An evolutionary perspective on human germline mutation. M. Przeworski. Columbia Univ, New York.
2:15 PM Genome-wide patterns and properties of de novo point mutations. S. Sunyaev. Brigham & Women’s Hosp, Boston. 2:45 PM The selfish effect of paternal age on germline mutations. A. Goriely. Univ Oxford, UK. 3:15 PM Ribonucleotides, non-canonical nucleotides embedded in the genome. A. P. Jackson. Univ Edinburgh, UK.
Holiday Ballroom 1, 2nd Floor, Hilton Baltimore Hotel Moderator: Marylyn D. Ritchie, Gesinger Hlth Syst; The Pennsylvania State Univ, University Park Since the dawn of the genomics era, significant progress has been made in the “T1” space translating scientific discoveries into clinical guidelines - however, challenges remain. We can leverage the expanding resources of electronic health records (EHR) linked to genomic information for progress in this space. Another significant challenge to realizing the goal of meaningful impact on healthcare is bridging the “T2” gap - implementing those translational discoveries in clinical practice ultimately to improve human health. This session will address translating genetic and genomic discoveries into improved human health from the perspectives of genomic data management, operational issues, and ELSI - ethical, legal, and social issues. We will first frame the issue by presenting an example project that illustrated many of the challenges involved. We then delve into the challenges and barriers to implementation, both technical and cultural. We will discuss the heterogeneous skill sets needed to tackle these problems, including expertise across the spectrum of biomedical informatics, epidemiology, and medicine, from molecules to organs and from patients to populations. We will describe how existing technologies and standards support clinical decision support for genomic medicine, and conclude with a specific case study that highlights both the challenges and opportunities inherent in the realization of genomic health. 1:45 PM Using electronic health record data and biorepositories, from experimental discovery to clinical decision support: Progress and promise. S. A. Pendergrass. Geisinger Hlth Syst, Danville.
2:15 PM Prospective, multiplexed genotyping to tailor genetic therapy - the Vanderbilt PREDICT program. J. C. Denny. Vanderbilt Univ Sch Med, Nashville. 2:45 PM Standards to enable genomic clinical decision support: Making knowledge computable. R. R. Freimuth. Mayo Clin, Rochester. 3:15 PM DTC testing and genomic medicine: A cautionary tale. J. D. Tenenbaum. Duke Univ, Durham.
NEW for 2015: ASHG will set up a secure slide-sharing website for oral presentations. This is an opt-in policy for speakers who wish to share their slides. Slides will be available a few weeks after the meeting. 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.
INVITED AND PLATFORM SESSIONS
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Saturday, October 10 1:45 PM–3:45 PM Concurrent Invited Sessions II 83. Understanding Disease Pathogenesis: A Grand Challenge for Model Organisms Room 318/321, Level 3, Convention Center Moderators: Philip Hieter, Univ British Columbia, Vancouver Jasper Rine, UC Berkeley
The model organisms, yeast, worm, fly, zebrafish, mouse, and others, provide powerful tools for investigating the mechanistic basis of diseases, for identifying and developing potential therapeutic interventions, and for evaluating new treatments. Success in such endeavors will be catalyzed by the establishment of connections, collaboration, and cross-talk between basic and clinician scientists, as novel disease-causing mutations are discovered. Indeed, key aspects of most human disorders can be modeled in experimentally tractable organisms through the analysis of orthologous genes and pathways, using the genetic, biochemical and cell biological toolboxes that have been developed in each model organism. Despite the dramatic increase in the pace of human disease gene discovery, the gap in our understanding of the molecular and cellular bases of the associated diseases continues to grow. Our knowledge of the complete catalogue of highly penetrant, diseasecausing mutations is quite limited. This brings a real and immediate need for model organism research platforms to put disease-causing genes into a biological context. This symposium will accent the current relevance of model organism studies for the understanding, diagnosis, and treatment of human disease, and anticipate the future role of model organisms in human disease research. We chose to highlight a diverse set of biological processes and experimental systems to make the point that the principles of cross species analysis of basic gene function extend to the study of all human disorders, and can lead to mechanistic understanding of disease pathogenesis and rationale for the development of new therapies.
2:15 PM Fruit fly/mouse: Molecular genetics of tumor suppressor genes and oncogenes. D. Pan. Johns Hopkins Univ Sch Med, Baltimore. 2:45 PM Nematode worm: Nutritional regulatory networks. M. Walhout. U Mass Med Sch, Worcester. 3:15 PM Yeast/zebrafish: Genetic models to determine gene function and a potential therapy for an inherited anemia. C. McMaster. Dalhousie Univ, Halifax, Canada.
NEW for 2015: ASHG will set up a secure slide-sharing website for oral presentations. This is an opt-in policy for speakers who wish to share their slides. Slides will be available a few weeks after the meeting. 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.
INVITED AND PLATFORM SESSIONS
1:45 PM Fruit fly/mouse: A fly approach to personalized cancer therapeutics. R. Cagan. Mount Sinai Hosp, New York.
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POSTER SESSIONS
The program and abstract/poster board number next to each listing is followed by a W (Wednesday), T (Thursday), or F (Friday) 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. Wednesday 9:00 am-1:00 pm All poster authors (Wednesday, Thursday, and Friday) place posters on boards 9:00 am-7:00 pm Posters available for general viewing 5:00-7:00 pm Opening Poster Session and Reception (Wednesday Authors Present) 5:00-6:00 pm (odd poster board numbers; author must be present) 6:00-7:00 pm (even poster board numbers; author must be present) Note: Posters will be closed from 2:30-4:30 pm on Wednesday. Thursday 9:00 am-3:00 pm Posters available for general viewing 11:00 am-1:00 pm Poster Session II (Thursday Authors Present) 11:00 am-12:00 pm (odd poster board numbers; author must be present) 12:00-1:00 pm (even poster board numbers; author must be present) Friday 9:00 am-2:00 pm Posters available for general viewing 10:45 am-12:45 pm Poster Session III (Friday Authors Present) 10:45-11:45 am (odd poster board numbers; author must be present) 11:45 am-12:45 pm (even poster board numbers; author must be present) 2:00 pm Posters closed 2:00-2:15 pm All authors remove posters from boards 2:30 pm Exhibit Hall closed
New for 2015! Reviewers’ Choice Abstracts This year, the top 10% of posters by topic, as determined by the reviewers’ scores of the submitted abstracts, will receive a Reviewers’ Choice Abstract ribbon, which will be placed directly on the poster board. Look for the ‡ symbol next to poster listings and keep an eye out for these high-scoring posters as you make your way through the poster hall.
IMPORTANT For safety reasons, no registrant will be admitted into the Exhibit Hall or poster area for any reason before 9:00 am on Wednesday or after 2:15 pm on Friday. 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, Level 1
104 POSTER SESSIONS
CONGRATULATIONS TO THE POSTER AUTHORS SELECTED FOR THE 2015 POSTER WALKS Three posters from each of 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. Leader names are listed next to each topic. The leader of each walk selected the posters based on abstract content and will provide context as well as highlight some of the more significant and thought-provoking aspects of the research described in the posters. Poster authors are encouraged, but not required, to be at their boards during the walks. Poster Walk I: Thursday, 1:00-2:30 pm Bioinformatics and Genomic Technology: Deanna Church Poster #s: #1766T, 1808T, 1826T Cancer Genetics: Fergus Couch Poster #s: #2626T, 2640T, 2794T Cardiovascular and Metabolic Genetics: Ingrid Borecki Poster #s: #527T, 572T, 632T Clinical Genetics and Dysmorphology: Anthony Wynshaw-Boris Poster #s: #2429T, 2456T, 2462T Complex Traits and Polygenic Disorders: Sekar Kathiresan Poster #s: #831T, 924T, 939T Evolutionary and Population Genetics: Carlos Bustamante Poster #s: #1532T, 1552T, 1572T Prenatal, Perinatal, and Reproductive Genetics: Diana Bianchi Poster #s: #2154T, 2120T, 2126T Poster Walk II: Friday, 12:45-2:15 pm Bioinformatics and Genomic Technology: Jay Shendure Look for this symbol on the poster Poster #s: #1608F, 1785F, 1893F boards of authors selected. Clinical Genetic Testing: Heidi Rehm Poster #s: #1929F, 1986F, 2058F Complex Traits and Polygenic Disorders: Jeff Barrett Poster #s: #745F, 841F, 904F Genetic Counseling: Barbara Biesecker Poster #s: # 2207F, 2199F, 2205F Genome Structure, Variation, and Function: Manolis Dermitzakis Poster #s: #3173F, 3179F, 3181F Psychiatric Genetics, Neurogenetics, and Neurodegeneration: Xavier Estivill Poster #s: #1066F, 1162F, 1195F Statistical Genetics and Genetic Epidemiology: Mark Daly Poster #s: #1286F, 1313F, 1439F
POSTER SESSIONS 105
The program number and the abstract/poster board number are one and the same. It appears in bold print followed by the letter W (Wednesday), T (Thursday), or F (Friday). The title and first author’s name follow. Abstract/Poster Board Numbers Start #
Page Numbers
End #
Bioinformatics and Genomic Technology
1588
1917
142
Cancer Genetics
2567
2794
172
Cardiovascular Genetics
508
647
109
Clinical Genetics and Dysmorphology
2344
2489
165
Clinical Genetic Testing
1918
2099
152
Complex Traits and Polygenic Disorders
704
1021
115
Cytogenetics
2490
2538
170
Development
2539
2566
171
Epigenetics
391
467
106
Ethical, Legal, Social, and Policy Issues in Genetics
2155
2195
159
Evolutionary and Population Genetics
1447
1587
138
Genetic Counseling
2196
2215
160
Genetics/Genomics Education
2216
2241
161
Genome Structure, Variation, and Function
3026
3193
186
Health Services Research
2242
2262
162
Metabolic Disorders
2263
2343
163
Molecular Basis of Mendelian Disorders
2795
3025
179
Pharmacogenetics
648
703
114
Prenatal, Perinatal, and Reproductive Genetics
2100
2154
157
Psychiatric Genetics, Neurogenetics, and Neurodegeneration
1022
1253
125
Statistical Genetics and Genetic Epidemiology
1254
1446
133
Therapy for Genetic Disorders
468
507
108
POSTER SESSIONS
Session Topic/Title
106 POSTER SESSIONS Epigenetics 391T The functional MTHFR C677T polymorphism modulates global DNA methylation and associates with non-random differentially methylated regions (DMRs) in autism spectrum disorder. A. J. M. McNaughton. 392F Alignment and methylation analysis of tandem repeat elements in cancer using targeted next-gen bisulfite sequencing. J. Alexander. 393T Integrating single-base resolution quantitative epigenomic and transcriptomic sequence data to analyze differential gene expression in normal and tumor liver tissue samples. K. R. Booher. 394F Characterization of differential DNA methylation in transcription factor binding sites across human cancers. B. N. Lasseigne. 395T HiTMAP: A High-Throughput Methylation Analysis Program for targeted bisulfite sequencing. B. S. Pullman. 396F A systematic study of normalization methods for Infinium 450K methylation data using whole-genome bisulfite sequencing data. T. Wang. 397T Microsatellite Instability (MSI) is associated with differential DNA methylation in colorectal carcinoma and may have interaction with location of the tumor. F. Jasmine.
406F DNA methylation at residue cg05575921 in the aryl hydrocarbon receptor repressor is the most sensitive and specific indicator of smoking status in epigenome. A. Andersen. 407T Estimation of cell type specific DNA methylation effects using whole blood methylation data. R. Barfield. 408F Genome-wide DNA methylation signatures of salivary gland inflammation in Sjögren’s Syndrome. M. B. Cole. 409T DNA methylation profiles in ADHD: Comparison between boys and girls. T. V. M. M. Costa. 410F A genome-wide analysis of differential methylation regions in the nucleus accumbens of rhesus macaques after long-term alcohol use. B. Ferguson. 411T Intra-individual dynamics of transcriptome and genome-wide stability of DNA methylation during three months. R. Furukawa. 412F Characterizing a genomic map of 5-hydroxymethylcytosine in human brain at single base resolution through next-generation sequencing. J. A. Gross. 413T Strong components of epigenetic memory in cultured human fibroblasts. N. A. Ivanov. 414F Epigenome characterization of human genomes using the PacBio® platform. J. Korlach.
398F DNA methylation landscape of sporadic and melanoma-prone patients. A. C. V. Krepischi.
415T M-QTL analysis between asthma GWAS loci and DNA methylation interactions. A. Kumar.
399T Quantification and application of potential epigenetic markers in maternal plasma of pregnancies with hypertensive disorders. H. J. Kim.
416F DNA methylation score as a biomarker in newborns for sustained maternal smoking during pregnancy. S. J. London.
400F Abnormal DNA methylation in T-lymphocytes from patients with CF. E. Kvaratskhelia.
417T Whole-genome bisulfite sequencing data from multiple human tissues reveal novel CpG island loci of tissue-specific regulation. I. Mendizabal.
401T Early prediction of hypertensive disorders of pregnancy using maternal characteristics, epigenetic markers and serum markers. S. Y. Kim. 402F Missing data imputation using genome-wide DNA methylation data. W. Guan. 403T A genome-wide study of DNA methylation and prediction of diabetic nephropathy. G. D. Fufaa. 404F Comparison of DNA methylation profiles in sibpairs discordant for intrauterine exposure to maternal gestational diabetes mellitus. S. Kwak. 405T DNA methylation may mediate the association of cigarette smoking and prostate cancer progression. I. M. Shui.
418F Epigenome-wide association study suggests that SNPs in the promoter region of RETN influence plasma resistin level via effects on DNA methylation at neighboring sites. M. Nakatochi. 419T Epigenetic regulation of differential HLA-A allelic expression levels. V. Ramsuran. 420F Epigenome-wide association analyses of healthy human skin and blood DNA methylation profiles in relation to total body nevus count. L. Roos. 421T DNA methylation profiling of brains of Parkinson disease patients. S. K. Sivasankaran. 422F Genome-wide DNA methylation changes in the dorsal and ventral striatum of individuals with chronic cocaine dependence. K. Vaillancourt.
‡ Indicates Reviewers’ Choice Abstract The author listed is the first/presenting author that submitted the abstract. The letter following each poster number indicates the day that authors will be present at their posters. W=Wednesday; T=Thursday; F=Friday. Taking photographs or recording posters is strictly prohibited if the author has displayed the no photography symbol. You agreed to adhere to this policy when registering.
POSTER SESSIONS 107 423T Preliminary study on genome wide methylation profile of liver biopsies in HCV infected patients with severe hepatic fibrosis. L. R. S. Vasconcelos.
425T Set-based methods for DNA methylation analysis. Q. Yan. 426F Comprehensive identification of osteoblastspecific DNA methylation signatures. F. Yu. 427T Integration of DNA methylomic and transcriptomic changes in postmortem prefrontal cortex of subjects with alcohol use disorders. H. Zhang. 428F Epigenome-wide assoication in host genome for HIV infection. K. Xu. 429T Exploration of hydroxymethylation in KagamiOgata syndrome caused by hypermethylation of imprinting control regions. K. Yamazawa. 430F Peripheral blood DNA methylation markers associated with abstinence among chronic injection drug users in the ALIVE study. K. M. Bakulski. 431T Identification of housekeeping genes for DNA methylation study across different human ethnicities and tissues. D. P. Chen. 432F DNA methylation changes observed in rheumatoid arthritis joint tissue are detectable in CD4+ naive T cells from peripheral blood. C. Holingue. 433T Comparing variability in the SeqCap Epi CpGiant and the Illumina 450k methylation microarray for characterizing the human methylome. A. C. Just. 434F A DNA methylation signature of alcohol consumption. C. Liu. 435T‡ Genome-wide analysis of DNA methylation identifies a novel locus associated with bone mineral density. J. A. Morris. 436F Adjusting Infinium methylation profiles to suppress signals from varying cell proportion. G. W. Nelson. 437T Improvements to existing QC tools for methylation 450K arrays. J. Romm. 438F‡ Lifestyle and biological age in a cohort study: Methylation age vs telomere length. A. Russo. 439T Estimating and accounting for cell type composition in analysis of sequencing based methylation data. A. A. Shabalin.
441T Detection of differentially methylated regions using both mean and variance differences. Y. Wang. 442F Preliminary analysis of genome-wide methylation qualitative trait loci for HIV infection. X. Zhang. 443T Systematic identification of downstream transeffects for 1,900 known disease associated SNPs. M. J. Bonder. 444F Race Specific Differential DNA Methylation Marks of COPD. R. Busch. 445T Masculinizing gene expression and DNA methylation in XX neural stem cells and their differentiated progeny by a single exposure of testosterone: An in vitro approach of understanding hormonal organization. M. Bramble. 446F Integrative approach for functional methylation loci with next-generation sequencing. H. Xu. 447T Oxidative stress pathways implicated in comprehensive epigenetic and transcriptomic assessment of adult hippocampus from fetal ethanolexposed mice. E. J. Diehl. 448F High SUMO E3 ligase PIAS1 protein expression in Breast Cancer Luminal A molecular subtype. A. Mannermaa. 449T Histone Binding Strength is Quantitatively Associated with Gene Expression Across Individuals. K. Fletez-Brant. 450F Inter-species comparison of endothelial cell gene regulation reveals the conserved control of vascular disease genes. A. Medina Rivera. 451T Effect of natural variation in copy number on epigenetic patterning. J. Yu. 452F‡ Methylation alterations of LINE-1 and imprinting genes related to folate deficiency during embryo development. L. Wang. 453T Investigating Imprinting As A Mechanism For The Development Of Asthma and related phenotypes In Two Canadian Birth Cohorts. A. Eslami. 454F Somatic cell hybrids as a model system to evaluate genome editing and genomic imprinting of pig chromosomes in the development of pre-clinical large animal models. R. D. Nicholls. 455T‡ Analysis of monoallelic expression in 1084 human individual cells revealed novel putative imprinted genes. C. Borel.
‡ Indicates Reviewers’ Choice Abstract The author listed is the first/presenting author that submitted the abstract. The letter following each poster number indicates the day that authors will be present at their posters. W=Wednesday; T=Thursday; F=Friday. Taking photographs or recording posters is strictly prohibited if the author has displayed the no photography symbol. You agreed to adhere to this policy when registering.
POSTER SESSIONS
424F Epigenetic suppression of VEGF in retinal pigment epithelial cells by vitamin C. G. Wang.
440F Determining the DNA methylation landscape of human pancreatic islets using whole-genome bisulphite sequencing to characterise Type 2 Diabetes GWAS regions. M. Thurner.
108 POSTER SESSIONS 456F Tissue-specific maps of genomic imprinting across the mammalian phylogeny reveal causal evolutionary pressures. T. Babak.
472W Efficacy and Safety of Diazoxide Choline Controlled-Release Tablet in Patients with Prader-Willi syndrome. A. Surampalli.
457T Genome-wide DNA methylation profiles in twins with autism spectrum disorders. A. Anhalt.
473T Histone Deacetylase Inhibitor Reverses Promoter Silencing in Friedreich Ataxia. S. Bidichandani.
458F‡ Longitudinal differences in DNA methylation profile of twins reared apart and together. A. Ganna. 459T Is familial correlation in genome-wide DNA methylation level due to sharing the womb or genes? S. Li.
474W Phase 3 and long-term extension study with migalastat, a pharmacological chaperone, demonstrate stable renal function, reduced left ventricular mass and gastrointestinal symptom improvement in patients with Fabry disease. D. P. Germain.
460F‡ Integrative Methods to Characterize X Chromosome Inactivation Patterns in Epithelial Ovarian Cancer. S. Winham.
475T Hydroxyurea induces -globin expression through microRNAs-mediated actions in human hematopoietic and K562 erythroleukemia cells. D. G. Pule.
461T Oxytocin and Religious Brain. J. R. Korenberg.
476W High-content screening for small molecule inhibitors of facioscapulohumeral dystrophy. S. J. Palmer.
462F Val158Met polymorphism in COMT affects the brain’s white matter properties during second language immersion. P. Mamiya. 463T Significant transcriptional changes in 15q duplication but not Angelman syndrome deletion dental pulp stem cell derived neurons. N. Urraca. 464F FXN promoter silencing in the humanized mouse model of Friedreich ataxia. Y. Chutake. 465T Chromatin accessibility in the mammalian retina: Potential impact on studies of human retinal and macular degeneration. F. Giuste. 466F Locally adaptive comparison of DNase I profiles to detect fine scale differences in regulatory activity. J. Morrison. 467T ChIP-seq identifies the target genomic loci of the SMARCA6 helicase in human hematopoietic neoplasms. J. A. Welch.
Therapy for Genetic Disorders 468W Morpholino oligomers as a potential therapeutic option for correction of defective alternative splicing. S. Tantzer.
477T The small molecule aldehyde trap NS2 represents a pharmacological approach to enzyme replacement therapy for SSADH deficiency (SSADHD). G. R. Ainslie. 478W Effects of oral eliglustat on bone parameters in treatment-naïve patients with Gaucher disease type 1: results from the phase 3, randomized, placebocontrolled ENGAGE trial after 18 months. P. Mistry. 479T Stability is maintained in adults with Gaucher disease type 1 switched from velaglucerase to eliglustat or imiglucerase: a sub-analysis of the eliglustat ENCORE trial. R. Pleat. 480W Gene Expression Profiling of Whole Blood from TNF Receptor-Associated Periodic Syndrome (TRAPS) Patients to Understand Response to Canakinumab Treatment. R. I. Torene. 481T Impact of NGS in rare diseases: Identification of novel biological pathways and therapeutic development in nemaline myopathy. V. A. Gupta. 482W‡ Systemic induced loss of NF1 in adult mouse is lethal. A. N. Turner. 483T Caveolae-mediated uptake of a-galactosidase A in Fabry disease in vitro systems. E. Changsila.
469T Seeking drugs for Pelizaeus-Merzbacher disease using drug repositioning approach targeting a novel cellular pathology. K. Inoue.
484W Development of an Intrathecal Enzyme Replacement Therapy for Sanfilippo Syndrome Type D (Mucopolysaccharidosis IIID). D. R. Moen.
470W Rapamycin as a novel treatment for vascular malformations caused by somatic mutations that activate the PI3K>AKT signaling pathway. L. Boon.
485T Comparison of taliglucerase alfa 30 U/Kg and 60 U/Kg in treatment-naïve pediatric patients with Gaucher disease. M. P. Wajnrajch.
471T The Inflammasome: A Novel Concept in VCP Disease. A. Nalbandian.
486W Long-term safety and efficacy of taliglucerase alfa in pediatric patients with Gaucher disease who were treatment-naïve or previously treated with imiglucerase. A. Zimran.
‡ Indicates Reviewers’ Choice Abstract The author listed is the first/presenting author that submitted the abstract. The letter following each poster number indicates the day that authors will be present at their posters. W=Wednesday; T=Thursday; F=Friday. Taking photographs or recording posters is strictly prohibited if the author has displayed the no photography symbol. You agreed to adhere to this policy when registering.
POSTER SESSIONS 109 487T Eteplirsen, a Phosphorodiamidate Morpholino Oligomer (PMO) for Duchenne Muscular Dystrophy (DMD): Clinical Update. E. M. Kaye.
489T Promoterless gene-targeting using adenoassociated viral (AAV)-mediated homologous recombination to treat methylmalonic acidemia. R. J. Chandler. 490W Choroid plexus-targeted viral gene therapy in an alpha-mannosidosis mouse model increases brain LAMAN activity globally and eliminates brain pathology. E. Choi. 491T Development of a stem cell/gene therapy approach to treat Sanfilippo syndrome type B. D. Clarke. 492W‡ Rescue of Diamond-Blackfan Anemia haploinsufficiency by knock-up of the deficient protein. I. Dianzani. 493T CSF-directed AAV9 gene therapy plus subcutaneous copper provides superior rescue in a mouse model of Menkes disease. M. R. Haddad. 494W‡ CRISPR-Cas9 Mediated Genome Editing of Myocilin in Hereditary Glaucoma. A. Jain. 495T Spell-Checking Nature: Versatility of CRISPR/ Cas9 for the Treatment of Inherited Disorders. D. U. Kemaladewi. 496W Broad Therapeutic Window for Retinitis Pigmentosa. S. F. Koch. 497T Pre-clinical development of a geneticallymodified human dermal fibroblast (FCX-007) for the treatment of recessive dystrophic epidermolysis bullosa (RDEB). M. P. Marinkovich, MD. 498W‡ Gene therapy for a mouse model of glucose transporter-1 deficiency syndrome. S. Nakamura. 499T Engineering Recurrent, Reciprocal Genomic Disorders using CRISPR/Cas9 in Human iPS Cells. D. Tai.
504W Transcriptome Comparison of Rat and Human Schwann Cells. D. Sant. 505T The NIGMS Human Genetic Cell Repository at the Coriell Institute: A research participation opportunity for individuals with inherited diseases and chromosomal abnormalities. N. Turan. 506W Accelerate R&D in genetic diseases for diagnostic and therapy: Initiatives from the International Rare Disease Research Consortium (IRDiRC). S. Ayme. 507T The ketogenic diet rescues defects of hippocampal neurogenesis in a mouse model of Kabuki syndrome. J. S. Benjamin.
Cardiovascular Genetics 508W Genetic Modifiers in Women with Turner Syndrome and Bicuspid Aortic Valve: Chromosomal Microarray and Whole Exome Sequencing. P. S. Kruszka. 509T A comprehensive sequence analysis of 22 tRNA genes identified a critical role of mitochondrial defects in hypertension. M. Wang. 510F PNPLA3 rs738409 is associated with APRI, a clinical predictor of hepatic fibrosis that shows association with left ventricular mass: The Strong Heart Family Study. S. Cole. 511W Functional variants in a clinical setting: an example using APOC3 R19X and extreme triglyceride levels extracted from electronic health records. D. C. Crawford. 512T Striatin is a novel risk gene for human dilated cardiomyopathy. M. Dasouki. 513F Testing population-specific quantitative trait associations for clinical outcome relevance in a biorepository linked to electronic health records: LPA and myocardial infarction in African Americans. L. Dumitrescu.
500W Chimeric U2 small nuclear RNA-DMPK transsplicing molecule reverses pre-mRNA splicing defects in myotonic dystrophy type 1. P. S. Lai.
514W APOL1 risk allele is associated with early diagnosis of hypertension and a 2-3 mmHg increase in systolic blood pressure in young African American adults. G. Galarneau.
501T Silencing of Important Molecules Having Roles in Pathogenesis of Idiopathic Pulmonary Fibrosis via RNA interference and Development of New Therapeutic Modalities. O. F. Hatipoglu.
515T MyBPH acts as a modifier of hypertrophy in patients with hypertrophic cardiomyopathy. C. J. Kinnear.
502W Potential benefit of CSF1R mosaicism in a family with Hereditary Diffuse Leukoencephalopathy with Spheroids. F. S. Eichler.
516F Functional genomic analysis of blood and cardiac tissue during ischemia reperfusion (IR). D. McDaniel.
‡ Indicates Reviewers’ Choice Abstract The author listed is the first/presenting author that submitted the abstract. The letter following each poster number indicates the day that authors will be present at their posters. W=Wednesday; T=Thursday; F=Friday. Taking photographs or recording posters is strictly prohibited if the author has displayed the no photography symbol. You agreed to adhere to this policy when registering.
POSTER SESSIONS
488W CRISPR-Cas9 as a potential therapeutic tool for the Bardet-Biedl Syndrome (BBS) M390R mutation in vitro and in vivo. M. R. Cring.
503T Gluten-free diet is a cornerstone of Ehlers-Danlos syndrome management. K. Angione.
110 POSTER SESSIONS 517W Rare coding variants associated with blood pressure in ~13,000 individuals of African ancestry. P. Nandakumar.
533T Sequencing and Functional Validation Identifies Low Frequency Noncoding Variants at Chromosome 4q25 Underlying Atrial Fibrillation. S. Lubitz.
518T The contribution of common and low-frequency/ rare variants in ATP-binding cassette A1 (ABCA1) to lipoprotein-lipid traits. V. Niemsiri.
534F Identification of wide-spread allele-specific expression at lipid GWAS loci. M. Alvarez.
519F Diastolic blood pressure and intraocular pressure gene variants in relation to primary open-angle glaucoma. L. R. Pasquale. 520W Sequencing of PEAR1 to identify rare and novel genetic determinants of platelet aggregation. M. A. Taub. 521T Exome sequencing identifies a possible new candidate gene associated with thoracic aortic aneurysms and dissections. Y. Wan. 522F‡ Discovery of a deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion, uncovers a recessive condition characterized by severe congenital heart defects. H. Yu.
535W Identification of a homozygous mutation in PLXND1 in patients with a complex phenotype featuring truncus arteriosus and abnormal pulmonary venous return with predisposition to Hirschsprung disease and neuroblastoma. C. Gordon. 536T Mutations in TAX1BP3 cause Dilated Cardiomyopathy with Septo-Optic Dysplasia. E. Reinstein. 537F Impaired PIEZO1 function in patients with a novel autosomal recessive congential lymphatic dysplasia. B. Krock. 538W Contribution of CRELD1 novel mutations and polymorphisms in occurrence of AVSD among DS patients seen in North Indian population. A. Asim.
523W Rare variants in primary cilium genes may contribute to the risk of AVSD in children with Down syndrome. H. Corbitt.
539T Cost analysis and strategy in molecular diagnosis of familial hypertrophic cardiomyopathy: From Sanger to next generation sequencing. D. A. Coviello.
524T Prediction of causal regulatory DNA variants regulating the QT interval phenotype. D. Lee.
540F Implementation of diagnostic whole exome sequencing to improve diagnostic yield of genetic testing for patients with thoracic or abdominal aortic aneurysm. H. T. Bruggenwirth.
525F Familial Combined Hyperlipidemia Is a Genetically Heterogeneous Disorder. J. T. Rämä. 526W‡ Pathogenetic study at the intersection of Marfan syndrome and autosomal dominant polycystic kidney disease. D. Schepers. 527T STEM9, a novel non-coding RNA on chromosome 9p21, is downregulated in coronary artery calcification. S. K. Sen. 528F Novel MYLK gene mutation in a Large Family with Fatal Aortic Aneurysm and Dissection: Delineation of the Clinical phenotype. A. Shalata. 529W Genetic variants near IRS1, body fat percentage and metabolic traits in Hispanics/Latinos from the Hispanic Community Health Study/Study of Latinos (HCHS/SOL). Q. Qi. 530T‡ Inter-individual variation in DNA methylation levels in PLAT and STX2 genomic regions contribute to variation in Tissue Plasminogen Activator plasma levels. N. Zwingerman.
541W The genetics of inherited cardiac conditions. B. Chong. 542T Clinical and molecular lessons from targeted next generation sequencing of 51 genes involved in primary electrical disease. B. Loeys. 543F Target NGS extended panel for inherited cardiomyopathies: evaluating the increased diagnostic yield in hypertrophic cardiomyopathy. J. D. C. Marsiglia. 544W WES as a first and second-tier test for arrhythmia and cardiomyopathy. A. A. Singleton. 545T‡ Lack of specificity of ACMG classification rules decreases inter-curator concordance. ClinGen’s adaptation of ACMG’s framework to standardize interpretation of MYH7 related cardiomyopathy variants. C. Caleshu. 546F Whole genome sequencing is a clinically effective strategy for inherited cardiac disorders. P. A. James.
531F Novel homozygous BMP9 nonsense mutation causes pulmonary arterial hypertension. G. Wang.
547W Molecular diagnosis of generalized arterial calcification of infancy (GACI). K. Iravathy Goud.
532W Association of Glutathione S- transferase M1 and T1 gene polymorphisms in South Indian stroke patients. Usha. P.
548T APOE genotype influences acute phase lipid changes in response to intracerebral hemorrhage. C. D. Anderson.
‡ Indicates Reviewers’ Choice Abstract The author listed is the first/presenting author that submitted the abstract. The letter following each poster number indicates the day that authors will be present at their posters. W=Wednesday; T=Thursday; F=Friday. Taking photographs or recording posters is strictly prohibited if the author has displayed the no photography symbol. You agreed to adhere to this policy when registering.
POSTER SESSIONS 111 566T Functional Interrogation of an Intronic SNP in SMAD3 Linked to CAD (Coronary Artery Disease). A. Turner.
550W Response-eQTLs of human left ventricular tissue after ischemia. T. Chang.
567F Integrity of induced pluripotent stem cell (iPSC) derived megakaryocytes as assessed by genetic and transcriptomic analysis. K. Kammers.
551T Loss of Function Mutations in NNT Are Associated with Left Ventricular Noncompaction. E. E. Davis. 552F Genomic Subsets and Cell Types Contribute to the Polygenicity and Heritability of Coronary Artery Disease. R. Do. 553W Gene silencing and haploinsufficiency of Jag1 in GWAS locus 20p12.2 increase blood pressure. J. Kang. 554T The role of the anti-oxidant enzymes SOD2 and catalase in the pathogenesis of pulmonary arterial hypertension. R. D. Machado. 555F Mechanical Stability of the Aorta in a Col3a1 Mouse Model. J. Meienberg. 556W Cardiomyopathy in sialic acid deficient GNE myopathy. L. Mian. 557T Blood-Pressure Associated Variants in Natriuretic Peptide Receptor C Affect Human Vascular Smooth Muscle Cells Proliferation and Angiotensin IIStimulated Calcium Response. M. Ren. 558F Apolipoprotein L1 genetic variants are associated with incident chronic kidney disease but not incident cardiovascular events in a population referred for cardiac catheterization. H. Wang. 559W‡ Regulation of postprandial lipid homeostasis by TM6SF2 . N. Zaghloul. 560T Role of Genetic Variants in Cholesteryl Ester Transfer Protein in Risk of Myocardial Infarction and Response to Therapy. K. Hartmann. 561F Increased DNA damage and mutagen sensitivity: A new genetic modifier in pulmonary arterial hypertension? K. M. Drake. 562W SLC39A8 polymorphism influences cellular cadmium uptake and toxicity via signalling pathway activation in relation to hypertension. R. Zhang. 563T Genetics of gene expression regulation in a case-control study for acute myocardial infarction in a Pakistani population. N. I. Panousis. 564F A novel functional VKORC1 promoter polymorphism (rs397509427) and Warfarin resistivity in Indian patients. T. Shukla. 565W The Gly364Ser variant in the Catestatin domain of Chromogranin A enhances the risk for hypertension in Indian populations. M. Kiranmayi.
568W Elevated levels of oxidative DNA damage and folate gene polymorphisms in children with congenital septal defects and their mothers. S. B. Sunayana. 569T A Gene-by-Environment Interaction Informs Aortic Segment-Specific Vulnerability for Aneurysm Formation in Mendelian Aortopathies. N. Wilson. 570F Notch1 haploinsufficiency under the influence of maternal hyperglycemic environment increases risk of congenital heart defects by an epigenetic mechanism. M. Basu. 571W Common Genotype and Environmental Risk Factors of Myocardial Infarction and High Blood Cholesterol in a Retrospective Population Study. Y. Liang. 572T‡ Utilizing gene expression to uncover genotypedependent effects of BMI in multiple tissues. C. A. Glastonbury. 573F What next after GxE GWAS: A bioinformatic functional characterization of the EBF1 gene and stress interaction signal. A. Singh. 574W Comprehensive analysis of established dyslipidemia-associated loci in the Diabetes Prevention Program. T. V. Varga. 575T Understanding the Biological Basis of G×E Interactions in Cardio-metabolic Disease: Methylation Profiles, Genetic Variation and Caregiver Stress. R. Jiang. 576F‡ Genome-wide association study identifies variants that predict survivorship in individuals with coronary artery disease. J. R. Dungan. 577W Comprehensive characterization of the genetic architecture of sudden cardiac death. F. N. Ashar. 578T DNA methylation profiling identifies a locus near a HMG-CoA synthase gene associated with triglyceride levels and modified by BMI. F. Gagnon. 579F Coronary Collateralization Shows Sex and Ethnic Differences in the Presence of Obstructive Artery Disease. Z. Liu. 580W Exome chip meta-analysis identifies novel loci contributing to lipid levels in Asian population. X. Lu. 581T Molecular basis of regulatory variation at coronary heart disease associated loci. C. L. Miller.
‡ Indicates Reviewers’ Choice Abstract The author listed is the first/presenting author that submitted the abstract. The letter following each poster number indicates the day that authors will be present at their posters. W=Wednesday; T=Thursday; F=Friday. Taking photographs or recording posters is strictly prohibited if the author has displayed the no photography symbol. You agreed to adhere to this policy when registering.
POSTER SESSIONS
549F Knockout mice for the cardiac repolarization regulator Nos1ap display partial lethality and increased heart mass. D. R. Auer.
112 POSTER SESSIONS 582F‡ A genome-wide association study of ischemic stroke and its subtypes identifies a novel locus near TSPAN2. S. L. Pulit.
597F Simvastatin and RORα Ligands Increase AMPActivated Protein Kinase (AMPK) Level In Vitro. N. Coban.
583W Chromosome 22q11 microdeletion syndrome: Association of congenital heart disease with copy number variants. G. Repetto.
598W Better Characterization of Coronary Artery Disease Across Multiple Tissues Achieved through Improvement of Bayesian Networks Using Causal Inference Testing. A. Cohain.
584T Causal effect of blood plasminogen activator inhibitor type 1 level on increased risk of coronary heart disease. C. Song. 585F Genetic determinants associated with BP phenotypes. N. Vasudeva. 586W Genome-wide association study of CVDrelated loci with lipid traits in the Heart Strategies Concentrating on Risk Evaluation (Heart SCORE) study. X. B. Wang. 587T CETP genotype is associated with phenotypic variability of HDL among other loci identified in a lipid vQTL study. Y. Ma. 588F Genome-wide Association Studies Meta-analysis on Long Term Average Blood Pressure among Asian Population. C. Li. 589W PIK3CG rQTL for blood pressure (SBP & DBP) modifies CHD/LDL and CHD/DBP relationships among other rQTL and GxG found in a blood pressure rQTL screen. T. J. Maxwell. 590T A smoking and diabetes status stratified analysis of peripheral arterial disease (PAD) identifies new loci and variants that my interact with these risk factors to modify the risk of PAD. N. R. van Zuydam. 591F GDF-15 gene variants influence GDF-15 levels, an independent prognostic marker for cardiovascular events. N. Eriksson. 592W Population-specific genomics identifies predictor of venous thromboembolism in African Americans. W. Hernandez. 593T Genome-wide association study with 1000 Genomes imputation identifies 7 new loci associated with blood-pressure traits in African-American population. J. Liang.
599T From Death to Life/Back to the Future: Detailed premorbid clinical and family history can save the lifes and adress the final diagnosis in sudden unexplained deaths with negative autopsy. S. G. Temel. 600F Multivariate genome-wide association analysis of circulating cellular adhesion protein levels in the MultiEthnic Study of Atherosclerosis. N. B. Larson. 601W Differential mRNA and miRNA gene expression in hypertensive and non-hypertensive women is influenced by race. D. F. Dluzen. 602T Discovery of gene networks in monocytes with evidence of mediating the protective effects of HDLcholesterol on monocytes function. R. A. Verdugo. 603F Extensive Transcriptional Changes in Hypertrophied Cardiomyocytes Derived from Human iPSCs. W. Li. 604W Increased mutational burden is associated with more severe presentation in left ventricular noncompaction. M. Bainbridge. 605T Dilated cardiomyopathy-associated long intergenic non-coding RNAs in zebrafish cardiac transcriptome. L. Wang. 606F Heterozygous loss-of-function mutations in DLL4 cause Adams-Oliver Syndrome. J. A. N. Meester. 607W Recessive MYH6 mutations in hypoplastic left heart with reduced ejection fraction. J. Theis. 608T Novel FLNC truncation variants found in a large cohort of dilated cardiomyopathy cases. R. L. Begay. 609F A unique case of multisystemic smooth muscle dysfunction syndrome with expanding genotypephenotype correlations. G. Bhat.
594F Identification of genetic loci associated with heart rate variability by the VgHRV consortium. I. M. Nolte.
610W Genome-wide rare copy number variations contribute to genetic risk for transposition of the great arteries. G. Costain.
595W Genome-wide association analysis of selfreported blood clots in 6,135 research participants identifies 8 loci associated with thrombosis. M. Sabater-Lleal.
611T Analysis of rare variants and CNVs in nonsyndromic tetralogy of Fallot. J. Goodship.
596T Meta-analysis of exome chip for platelet count and mean platelet volume identifies novel common and rare loci. J. D. Eicher.
612F‡ Genetic Causes for Congenital Heart Disease with Neurodevelopmental and Other Deficits. J. Homsy. 613W Utilization of Whole-Exome Sequencing to Identify Causative Mutations in Familial Congenital Heart Disease. S. LaHaye.
‡ Indicates Reviewers’ Choice Abstract The author listed is the first/presenting author that submitted the abstract. The letter following each poster number indicates the day that authors will be present at their posters. W=Wednesday; T=Thursday; F=Friday. Taking photographs or recording posters is strictly prohibited if the author has displayed the no photography symbol. You agreed to adhere to this policy when registering.
POSTER SESSIONS 113 614T Search for Novel Mutations Predisposing to Ventricular Fibrillation Without Overt Cause. J. T. Leinonen.
616W Whole exome sequencing in 41 Czech families with inherited cardiovascular disorders: Initial data from a representative Central European population. M. Macek.
630F Possible pathological events involved in dilated cardiomyopathy. M. L. Satyanarayana. 631W Effects of rare coding variants at NOS1AP and other genes encoding intercalated disc proteins on the electrocardiographic QT interval. A. Kapoor.
617T Investigating the role of somatic mutation in congenital heart disease. D. E. Miller.
632T‡ Rare Exome Sequence Variants in CLCN6 Reduce Blood Pressure Levels and Hypertension Risk. B. Yu.
618F Exome Analysis in 36 Unrelated Patients with Pregnancy-Associated or Peripartum Cardiomyopathy Demonstrates a Rare Variant Basis. A. Morales.
633F First evidence of association between MTHFR C677T polymorphism and Rheumatic Mitral Value Disease. S. Justin Carlus.
619W Connective tissue disorders presenting severe arterial tortuosity in the perinatal period. H. Morisaki.
634W‡ A phenome-wide scan to detect pleiotropic effects of the loss of function R46L variant in PCSK9. M. S. Safarova.
620T Whole exome sequencing, blood lipids, and cardiovascular outcomes in 31,000 participants in the Regeneron Genetics Center – Geisinger Health System (DiscovEHR) human genetics collaboration. C. O’Dushlaine. 621F‡ Identification of Novel Risk Genes for Venous Thromboembolism using Rare Coding Variant Burden Analysis in the GIFT and ELATE/DODS Cohorts. A. Ozel. 622W‡ Loss-of-function LOX mutations cause thoracic aortic aneurysms and acute aortic dissections. E. S. Regalado. 623T Clinically relevant variants identfied in thoracic aortic aneurysm patients by research exome sequencing. J. A. Schubert. 624F Association of a single nucleotide polymorphism variant in the SCUBE1 gene with Coronary Artery Calcium score in the ClinSeq® Study. H. Sung. 625W Arterial tourtosity in two Turkish pediatric patients with novel homozygous missense mutations in the SLC2A10 gene. F. Uysal. 626T Genetic testing practices in pediatric cardiomyopathy: Identifying opportunities to positively impact diagnosis and family-based risk stratification. S. M. Ware. 627F Identification of Second-hit Mutations in Known CHDs Causative Genes in 22q11DS Patients with Conotruncal Heart Defects by Whole-exome Sequencing. T. Guo. 628W‡ Sequence Data Processing and Analysis of the first 20,000 Human Genomesin the NHLBI TopMed Program. G. R. Abecasis.
635T Leveraging the uniqueness of family studies in the search for coding variants for blood pressure: An exome array study in African American cohorts. X. Zhu. 636F Somatic/mosaic mutations are an important cause of sporadic vascular anomalies. M. Vikkula. 637W Large-scale analysis of population titin truncations reveals these variants are rarer than previously estimated. O. Akinrinade. 638T Association of variation in 82 pharmacogenes with low-density lipoprotein cholesterol levels in the eMERGE-PGx project. I. J. Kullo. 639F Defining the Genetic Landscape of Pulmonary Arterial Hypertension Using Whole-Genome Sequencing. S. Gräf. 640W Testing causality in the association of plasma cortisol with risk of coronary heart disease: a Mendelian randomisation study. A. A. Crawford. 641T Possibly Pathogenic Copy Number Variations Identified in Patients with Hemorrhagic Stroke. A. Donatti. 642F Concordance in classification of hypertrophic cardiomyopathy variants is markedly higher among expert centers than among clinical labs. A. Furqan. 643W Detection of eQTLs in Human Left Atrium and their association with Atrial Fibrillation Using Hidden Expression Factor Analysis. M. Heydarpour. 644T Co-Aggregation of Depression and Cardiovascular Diseases. S. Knight.
‡ Indicates Reviewers’ Choice Abstract The author listed is the first/presenting author that submitted the abstract. The letter following each poster number indicates the day that authors will be present at their posters. W=Wednesday; T=Thursday; F=Friday. Taking photographs or recording posters is strictly prohibited if the author has displayed the no photography symbol. You agreed to adhere to this policy when registering.
POSTER SESSIONS
615F Whole exome sequencing identified known and novel genetic causes for pulmonary arterial hypertension. L. Ma.
629T‡ Identifying low frequency and rare coding variation influencing cardiometabolic traits through whole exome sequencing of 20,000 Finns: The FinMetSeq Study. A. E. Locke.
114 POSTER SESSIONS 645F Gene frequencies of the GSTT1 and GSTM1 genes in Ramgarhia Sikh population of Amritsar District and association with coronary artery disease. N. Mahajan.
659T Investigating Genetic Variants of IL-1β, IL-2, IL-6, TSPO, and BDNF in Association with Treatment Response to Duloxetine and Placebo Treatment in Patients with Major Depression. V. S. Marshe.
646W Differential genetic expression in ECG characterized normokinetic and akinetic/dyskinetic myocardium zones in humans. O. A. Makeeva.
660W Spindle and Kinetochore Associated Complex Subunit 2 (SKA2) May Play a Role in Response to Citalopram. A. J. Lisoway.
647T Heritability of age of onset of cardiovascular disease using large-scale Finnish health registry and genome-wide data. C. Benner.
661T Genetic Risk, Smoking Cessation, and the Clinical Benefits of Pharmacotherapy. L. Chen.
Pharmacogenetics
662W‡ A common missense variant of LILRB5 is associated with statin intolerance: A GoDARTS study. M. K. Siddiqui.
648W Genetic polymorphism of P2RX7 can be a predictive biomarker for responsibility to long-term effect of infliximab against Crohn’s disease. M. Yoshimura.
663T Fucosyltransferase 2 polymorphism (FUT2, rs492602) associates with vitamin B12 deficiency, but may be independent with proton pump inhibitor or metformin usages, diabetes mellitus, and thyroid diseases. H. Mo.
649T Association between KCNJ6 (GIRK2) gene polymorphism rs2835859 and postoperative analgesia, pain sensitivity, and nicotine dependence. D. Nishizawa.
664W Applying genetics in inflammatory disease drug discovery. L. Folkersen.
650W Genetic polymorphisms in the neuroplasticityrelated genes contribute to the therapeutic effect of antidepressants for major depression. Y. Kawafuchi. 651T Genetic risk factors for -lactam antibioticinduced cutaneous adverse drug reactions in Japanese population. T. Ozeki. 652W‡ PCSK9 variants are associated with LDL-C response to statin therapy in African-Americans. Q. Feng. 653T Identification of genetic and environmental factors that influence time to achieve target INR and time in therapeutic range with warfarin. M. R. Botton. 654W SNP-based HLA tagging, imputation, and association in adverse drug reaction of epilepsy patients from Hong Kong. S. S. Cherny. 655T Differential allele and haplotype frequencies in the ADME genes ABCB1 and NAT2 in Mexican population. A. V. Contreras. 656W Molecular Markers of Blood Pressure Response to Thiazide Diuretics Identified Through Whole Transcriptome RNA-Seq Analysis. A. Costa Sa. 657T Distribution of allele frequencies for clinically relevant pharmacogenes in Mexican population. J. C. Fernandez-Lopez. 658W‡ Influence of genetic variability on platelet aggregation in clopidogrel-treated patients of the International Clopidogrel Pharmacogenomics Consortium (ICPC). J. Lewis.
665T Novel genetic loci for resistant hypertension discovered through a genome-wide association approach (GWAS) in the INternational VErapamil SR-Trandolapril STudy (INVEST) and the Secondary Prevention of Subcortical Strokes (SPS3) Study. N. El Rouby. 666W A Genome-wide Association and Admixture Mapping Study of Bronchodilator Response in African Americans with Asthma. M. L. Spear. 667T‡ Pharmacogenetics of Acute Coronary Syndrome. P. Yin. 668W Using polygenic risk scores to guide antipsychotic dosage in a geriatric schizophrenia population. N. Hettige. 669T Partitioning the polygenic inheritance of paclitaxel-induced peripheral neuropathy. E. A. Khramtsova. 670W A Variant in UGT2A1/2 is Associated with SexSpecific Clopidogrel Response. A. S. Fisch. 671T Prevalence of CYP2D6*4 allele in a Northern Mexican Mestizo population for the assessment of tamoxifen metabolism. J. E. Gaytán-Arocha. 672W A longitudinal genome-wide association study of anti-tumor necrosis factor response among Japanese patients with rheumatoid arthritis. D. Jawaheer. 673T‡ Meta-analysis of the genome wide association studies (GWAS) on the intolerance of angiotensin converting enzyme inhibitors (ACEIs). C. N. A. Palmer. 674W Identifying a Novel Hypertension Genetic Signature Influencing the Blood Pressure Response to Hydrochlorothiazide Treated Patients. M. H. Shahin.
‡ Indicates Reviewers’ Choice Abstract The author listed is the first/presenting author that submitted the abstract. The letter following each poster number indicates the day that authors will be present at their posters. W=Wednesday; T=Thursday; F=Friday. Taking photographs or recording posters is strictly prohibited if the author has displayed the no photography symbol. You agreed to adhere to this policy when registering.
POSTER SESSIONS 115 675T Robust Heritability Estimation of Anti-TNF Treatment Response Phenotypes in Rheumatoid Arthritis. K. A. Standish.
677T Assessment of Knowledge and Comfort of Healthcare Providers in the Development of a UserFriendly Pharmacogenomics Report. C. A. Campbell. 678W Development and comparison of warfarin dosing algorithms in stroke patients. S. Cho. 679T‡ The identification of hematologic adverse drug events using the electronic health record in the eMERGE PGx cohort, in relation to pharmacogenetic variation. D. Crosslin. 680W Automated CYP2D6 diplotype assignment using whole genome sequences. A. Gaedigk. 681T Comprehensive study of NAT2 acetylation status in the Greenlandic population. F. Geller. 682W Rapid implementation of a system-wide, highthroughput, EHR-integrated pharmacogenetics clinical service through cloud-based software automation. M. Landsverk. 683T‡ Exome sequencing outperforms chip-based testing for clinically useful pharmacogenetic variant interrogation: Implications for preemptive pharmacogenetic evaluation. D. Ng. 684W PGRN-seq v.2: A second-generation capturesequencing reagent for prospective targeted sequencing of clinically relevant pharmacogenetic loci. S. Scherer. 685T Pharmacogenetics of antipsychotic dosing. V. De Luca. 686W A Missense Mutation in SVEP1 Influences OnClopidogrel Platelet Aggregation in a Sex-Specific Manner. J. Backman. 687T Effect of SLCO2B1 Gene Polymorphism on the Lipid Lowering Effect of Rosuvastatin in Hypercholesterolemic Patients. T.-E. Kim. 688W Genotyping of New ADME Variants in a Phase 2 Axitinib Trial to Understand Exposure Variations. J. C. M. Marshall. 689T Profiling of miRNA expression in Immune thrombocytopenia patients before and after Qishunbaolier (QSBLE) treatment. B. Borjigin. 690W Rare variants in ALOX5 may be associated with the risk of hypersensitivity reaction to penicillin. R. Pellegrino.
692W Comprehensive exploration of the high-risk rare variants for the cold medicine–related StevensJohnson syndrome/ toxic epidermal necrolysis (CMSJS/TEN) with severe ocular complications. Y. Hitomi. 693T Investigation of the role of rare variation in eighty-two pharmacogenes in the risk of vincristineinduced peripheral neuropathy in children. B. Almoguera. 694W Deep Sequencing of Genes Associated with Glucocorticoid Response in Asthma. Q. L. Duan. 695T Influence of common and rare genetic variation on warfarin dose among African Americans and European Americans using the exome-array. N. Liu. 696W Rescuing the un-sequenceable: Using exome sequencing and HRM to reliably and cost-effectively genotype non-trivial loci. M. D. Napier. 697T Novel genotyping algorithms for multiallelic and copy number ADME variants. J. P. Schmidt. 698W Variable read-through by small molecule drugs in Leber Congenital Amaurosis (LCA16) suggests need for personalized approach to read-through strategies. D. M. Pillers. 699T In silico analyses of complex systems for the development of novel therapeutics in rare and orphan diseases. K. Nguyen. 700W Variation in transcriptional response to Vitamin D and LPS in monocytes. S. N. Kariuki. 701T Association of gene polymorphism in detoxification enzymes and urinary 8-OHdG levels in traffic policemen exposed to vehicular exhaust in Telangana State. P.Reddy Penagaluru. 702W Molecular Modelling and Docking Analysis of katG and rpoB Genes in Clinical Isolates of Multi Drug Resistant Tuberculosis Patients from Sahariya Tribe of North Central India. R. Prakash. 703T Preliminary analysis of polymorphisms in the ABCB1 and ABCC1 genes associated to virological failure to antiretrovirals in a Mexican Mestizo population. F. F. González-Galarza.
Complex Traits and Polygenic Disorders 704W X-linked genes with novel rare variants identified by WGS in ASD patients are involved in neurodevelopment. V. Chini.
‡ Indicates Reviewers’ Choice Abstract The author listed is the first/presenting author that submitted the abstract. The letter following each poster number indicates the day that authors will be present at their posters. W=Wednesday; T=Thursday; F=Friday. Taking photographs or recording posters is strictly prohibited if the author has displayed the no photography symbol. You agreed to adhere to this policy when registering.
POSTER SESSIONS
676W CYP2D6 Gene Variants and Effectiveness of Adjuvant Tamoxifen in Breast Cancer: A PopulationBased Case-Control Study. C. S. Richards.
691T Next generation sequencing technologies improve pharmacogenetic-guided drug dosing. I. Cohn.
116 POSTER SESSIONS 705T Inherited missense variation in Pfam protein domains contributes to autism risk. S. Fu. 706F Whole genome sequencing of pedigrees with a high burden of autoimmune disease. P. Bronson. 707W The exome sequencing identified the YARS2 mutation as a nuclear modifier for the phenotypic manifestation of Leber’s hereditary optic neuropathyassociated mitochondrial DNA mutation. M. Guan.
721F Quality Control (QC) and Multi-Pipeline Genotype Consensus Calling Strategies for 578 whole genomes and 10,692 whole exomes in the Alzheimer’s Disease Sequencing Project (ADSP). A. C. Naj. 722W Genome-wide analysis of stuttering susceptibility. L. E. Petty. 723T Genome-wide rare variant association study of extreme phenotypes of emphysema. J. E. Radder.
708T Exome analysis of rare and common variants within the NOD receptor pathway. G. Andreoletti.
724F Comparing genetic, proteomic and clinical profiles of discordant monozygotic twins. N. Vadgama.
709F Identification of novel disease-causing genes expands molecular genetic diagnosis of Osteogenesis Imperfecta. S. Fahiminiya.
725W Sequencing Analysis of Interferon Lambda loci In Individuals with Spontaneous Hepatitis C Virus Clearance and Persistence. C. Vergara.
710W Utility of VAAST in targeted case-control sequencing of candidate genes in childhood onset Crohn disease. J. Chen.
726T Systematic screening of known associated genes confirms Congenital Hypogonadotropic Hypogonadism is characterized by oligogenicity. D. Cassatella.
711T LONP1 is A Novel Gene for Congenital Diaphragmatic Hernia. L. Yu.
727F Exome sequencing identifies SLC36A4 and SLC4A8 as novel genes influencing the distribution of HDL-cholesterol in West Africans and African Americans. A. R. Bentley.
712F A Patient with Beaulieu-Boycott-Innes Syndrome, Illustrating the Utility of Whole Exome Sequencing. J. Amos. 713W Searching for rare variants involved in fulminant hepatitis B virus infection using exome sequencing. N. Chaturvedi. 714T Sharing of sequence variants in multiple genes within and across multiplex nonsyndromic cleft lip/ palate families supports a multifactorial model. S. H. Blanton. 715F Whole genome sequencing in families to find new Alzheimer Disease genes: The analysis and current results from the Family Analysis Working Group of the Alzheimer’s Disease Sequencing Project. E. Blue. 716W Common and Rare Exonic Variants Associated with Type 2 Diabetes in Han Chinese. G. Chen. 717T Genetics of normal cognitive and neurosensory variation in humans. E. T. Cirulli. 718F‡ Rare variation association testing in inflammatory bowel disease, using low coverage whole genome sequences. K. M. de Lange. 719W Genetic epidemiology of ocular health and disease in the Jirel ethnic group of eastern Nepal: the Jiri Eye Study (JES). M. P. Johnson. 720T GRHL3 mutation screening identifies truncating mutations in patients with apparently nonsyndromic cleft palate. E. Mangold.
728W Intraocular pressure and exome sequencing variation in the Beaver Dam Eye Study. F. Chen. 729T Whole-exome sequencing identifies mutations in SQSTM1 and VCP genes in a series of 205 inclusion body myositis cases. Q. Gang. 730F Identification of Novel Candidate Genes in Primary Congenital Glaucoma by Whole Exome Sequencing. M. Kabra. 731W Understanding genetics of glucose and insulin dynamics in Mexican American individuals from Starr County, Texas. M. Karhade. 732T Whole-exome sequencing identifies novel candidate genes for early-onset Alzheimer disease. B. W. Kunkle. 733F Exome sequencing for identification of potential causal variants for diffuse cutaneous systemic sclerosis. A. C. Y. Mak. 734W Whole exome sequencing of probands from 158 idiopathic pulmonary fibrosis families identifies a telomere related gene network carrying potentially damaging mutations. R. Mitra. 735T Whole exome sequencing analysis of HIV-1 African American elite controllers. M. Montasser. 736F Identification of novel candidate genes for tuberculosis susceptibility by identifying diseasecausing mutations in individuals with PIDs. M. Möller.
‡ Indicates Reviewers’ Choice Abstract The author listed is the first/presenting author that submitted the abstract. The letter following each poster number indicates the day that authors will be present at their posters. W=Wednesday; T=Thursday; F=Friday. Taking photographs or recording posters is strictly prohibited if the author has displayed the no photography symbol. You agreed to adhere to this policy when registering.
POSTER SESSIONS 117 737W Exome sequencing reveals GNE, DYSF and CAPN3 as the major contributors of muscular dystrophy with potential roles of other genes in mediating disease progression. B. Nallamilli.
739F Exome sequencing in families affected with agerelated macular degeneration identifies rare variants in Complement Factor H associated with extramacular drusen and lower serum factor H levels. E. Wagner. 740W Exome sequencing of a family–based cohort with polycystic ovary syndrome highlights variants in known and novel genes. S. G. Wilson. 741T Analysis of exome array markers with quantitative lung function measurements in the COPDGene study. M. M. Parker. 742F Exome chip meta-analysis identifies novel lowfrequency variants contributing to central body fat distribution. K. L. Young. 743W Whole Exome Sequencing in Families with Chronic Lymphocytic Leukemia Detects a Mutation in ITGB2 (Integrin Beta 2) associated with Disease Susceptibility. L. R. Goldin. 744T Assessment of rare loss of function variants in previously healthy children with pediatric sepsis. A. Bittencourt Piccini. 745F‡ Large-Scale Association Study of 4,898 AgeRelated Macular Degeneration via Whole-Genome Sequencing. A. Kwong. 746W‡ Targeted deep sequencing of 28 SLE risk loci reveal regulatory haplotypes that potentiate systemic autoimmunity in Caucasians. P. Raj. 747T Polymorphism of gene PNPLA3 in Brazilian patients infected with HCV with severe steatosis. P. Moura. 748F‡ Whole Exome Sequence Meta-analysis of 13 White Blood Cell, Red Blood Cell, and Platelet Traits. L. M. Polfus. 749W Association of several genes and prostate cancer susceptibility using the Exome-Chip genotyping array. A. Amin Al Olama. 750T Rare variants in the functional domains of Complement Factor H are associated with age-related macular degeneration. E. D. O. Roberson. 751F Stop gain mutation in the ZNF528 gene co-segregates with familial early onset spinalosteoporosis. S. Skarp.
753T Identification of Polymorphisms Associated with Extrapulmonary Dissemination of Coccidioidomycosis (Valley Fever). M. Yourshaw. 754F Mutation in the chromatin-remodeling factor BAZ1A is associated with intellectual disability. A. Zaghlool. 755W Whole exome sequencing in a family with early onset primary angle-closure glaucoma. B. B. Souza. 756T Detection of somatic genetic variation at the LMNA locus in non-progeroid individuals. R. R. Palla. 757F Somatic mutation calling in lung tissue of exsmokers with different degrees of airway obstruction. G.-A. Thun. 758W Genetics of Obesity and Diabetes Related Quantitative Traits in Omani Arabs. N. N. Al Kharusi. 759T Identification of Rare Variants in Schizophrenia Families. Z. Brkanac. 760F Whole-genome sequencing reveals schizophrenia risk mechanisms in humans with 22q11.2 deletion syndrome. M. Zarrei. 761W A whole exome study identifies novel candidate genes for vertebral bone marrow signal changes (Modic changes). M. Kraatari. 762T Low-frequency germline variants across 6p22.2-6p21.33 are associated with non-obstructive azoospermia in Han Chinese men. Y. Jiang. 763F Exome sequencing to detect rare variants associated with biliary atresia. O. Migita. 764W Rare variants in sporadic Hirschsprung disease patients. C. Tang. 765T Gene variants associated with spherical equivalent in the Beaver Dam Eye Study. K. E. Lee. 766F Testing the neuronal carnitine hypothesis for autism using whole exome sequencing in SSC families. D. Zhang. 767W‡ Distinct genetic variants in the vitamin D pathway contribute to risk of multiple sclerosis and vary by presence of HLA-DRB1*15:01: Results from the Kaiser Permanente MS Research Program. A. Mok. 768T Fine-mapping major histocompatibility complex association in systemic lupus erythematosus identifies a novel association of HLA-DPB1 in three Asian populations. J. E. Molineros.
‡ Indicates Reviewers’ Choice Abstract The author listed is the first/presenting author that submitted the abstract. The letter following each poster number indicates the day that authors will be present at their posters. W=Wednesday; T=Thursday; F=Friday. Taking photographs or recording posters is strictly prohibited if the author has displayed the no photography symbol. You agreed to adhere to this policy when registering.
POSTER SESSIONS
738T Exome sequencing analysis in a Primary Open Angle Glaucoma Brazilian Family. P. V. Svidnicki.
752W The Helmsley Inflammatory Bowel Disease Exome Sequencing Program (HIESP) – Whole Exome Sequencing of 20,000 Samples. C. R. Stevens.
118 POSTER SESSIONS 769F Genetics of sarcoidosis determined by polygenic risk score analysis derived from CD4:CD8 ratio T-lymphocytes genetic variants. N. V. Rivera.
784F Rs738409 Polymorphism in PNPLA3 gene is associated with lower insulin resistance in Korean Men. J. Park.
770W Focused HLA Analysis in Idiopathic Inflammatory Myopathy Identifies Significant Associations of Classical HLA Alleles with Autoantibody and Clinical Subgroups. S. Rothwell.
785W Genetic Associations between Human Leukocyte Antigen-DQA1 Typing and Gallstone Disease in Han Chinese. H. Yang.
771T A cross-ethnic survey of CFB and SLC44A4, novel Indian ulcerative colitis GWAS hits, identifies allelic heterogeneity and underscores their potential role in disease biology. B. K. Thelma. 772F‡ Epigenetic marks are strongly enriched in IBD fine-mapped variants. M. Umićević Mirkov. 773W Dissection of HLA class II in Japanese primary biliary cirrhosis: epistasis of protective HLA-DQ allele and additional contribution of HLA-DP allele. M. Yasunami. 774T Identifying autosomal variants that differ in frequency between males and females and implications for sex-based differences in disease. S. M. Raj. 775F Targeted sequencing of familial idiopathic scoliosis regions of interest on chromosomes 1, 6, 9 and 16. C. M. Justice. 776W Candidate gene polymorphisms as risk factors for primary knee osteoarthritis in Asian Indians. S. Poornima. 777T Identification of genetic variants in Wnt-1induced secreted protein 1 gene associated with bone mineral density in Old Order Amish. X. Wang. 778F‡ A regulatory variant in the dopamine β-hydroxylase (DBH) gene is associated with nicotine dependence, smoking cessation, and pulmonary function. D. B. Hancock. 779W Ultra-deep sequencing to identify somatic genetic variations in the brain in Alzheimer disease and during aging. H. T. Helgadottir. 780T Genetic Susceptibility for Asthma in Two Resource-Limited Settings in Peru. W. Checkley. 781F SLC2A9 sequence variants and serum uric acid concentrations in American Indians: The Strong Heart Family Study. G. Chittoor. 782W Association of long intergenic non-coding RNA SNP near MYLIP (6p23-p22) with Healthy Aging Index: The Long Life Family Study (LLFS). M. F. Feitosa. 783T Variation in kidney structure-related genes in African Americans with type 2 diabetes-associated end-stage kidney disease. M. Guan.
786T Genotyping the Nord-Trøndelag Health Study (HUNT) Cohort Using an Exome+GWAS Array with All Stop-gain Variants in 96 Genes. W. Zhou. 787F Coding variants in RREB1 are associated with type 2 diabetes and fasting glucose levels. H. Kitajima. 788W Identifying Candidate Genes Associated with Non-syndromic Orofacial Cleft Risk in Puerto Rican Hispanics. C. J. Buxó-Martínez. 789T Rare Variants in Previously Identified Linkage Region on Chromosome 7p Associated With Carotid Bifurcation Intima-Media Thickness in Dominican Families. N. D. Dueker. 790F Association of APOE E3/E4 With A Convex Facial Profile in Individuals diagnosed with Obstructive Sleep Apnea (OSA). J. K. Hartsfield. 791W‡ Large-scale integrative fine-mapping over 22 complex traits with over 3.3 million phenotypic measurements. G. Kichaev. 792T Single nucleotide polymorphisms in the APCS gene influence geographic atrophy secondary to VEGF inhibition therapy in neovascular macular degeneration. G. J. McKay. 793F Identification of a p.Arg138Trp variant in TM6SF2 associated with triglyceride and total cholesterol levels in American Indians. A. Nair. 794W Mesocorticolimbic Genetic Variants are Associated with Scores on Opioid Risk Screening Tools. T. Onojighofia. 795T IBD associated SNP rs4256159 at chromosome 3p24 gene desert is correlated with increased colonic expression of SATB1. A. Onoufriadis. 796F Gender-specific association of ADIPOQ gene polymorphisms with adiponectin levels and the influence of genetic ancestry on the association with obesity in the Jackson Heart Study cohort. P. Riestra. 797W Fine-scale mapping of genomic heritability using summary association statistics. H. Shi. 798T Lack of Association Between Leptin T-2549G and Adiponectin C-11377G Genotype in Asthmatic-Obese Children. H. Verdi.
‡ Indicates Reviewers’ Choice Abstract The author listed is the first/presenting author that submitted the abstract. The letter following each poster number indicates the day that authors will be present at their posters. W=Wednesday; T=Thursday; F=Friday. Taking photographs or recording posters is strictly prohibited if the author has displayed the no photography symbol. You agreed to adhere to this policy when registering.
POSTER SESSIONS 119 799F The impact of known type 2 diabetes associated variants on circulating levels of GLP-1, GIP and glucagon during an oral glucose tolerance test. A. Jonsson.
801T Genetic Variation in the Maltase-Glucoamylase Gene (MGAM) Associates with Measures of Body Mass Index in American Indian Adults and Children. Y. Muller. 802F Analysis of common variants in SLC19A2 identifies a modest association with type 2 diabetes in Pima Indians. M. Traurig. 803W The genetic and regulatory architecture of the ERBB3-type 1 diabetes susceptibility locus. S. Kaur. 804T Impact of APOL1 genetic variation on HIV-1 infection and opportunistic infections in AfricanAmerican patients with HIV-1. P. An. 805F Immunochip analysis identifies amino acid residues in five separate HLA genes driving the association between the MHC and primary biliary cirrhosis. R. Darlay. 806W Identification and characterization of functional genetic variants in Dupuytren’s disease. J. Du. 807T Improved methods for multi-trait fine mapping of pleiotropic GWAS risk loci. M. Roytman. 808F Devising an imputation reference panel for finemapping regulatory variants in autoimmune diseases. H. Westra. 809W Genetic modifiers of age at onset of Alzheimer disease in PSEN1 mutation carrier families. J. H. Lee. 810T Genotype and phenotype diversity of Indian populations. A. Mishra. 811F Hypospadias and SRD5A2 gene: Haplotype frequency estimation and mutation in Iranian patients. M. Rahimi. 812W The association of HLA-DQA1 gene alleles frequencies and Kawasaki Diseases. H. Chi. 813T Fine-mapping analyses to identify additional variants influencing fasting metabolite concentrations. R. Li-Gao. 814F White matter tract laterality indices as endophenotypes to assess genetics of brain asymmetry. M. S. Naslavsky. 815W TPH2 variants are associated with metabolic syndrome and obesity. V. Causer.
817F Association of rs6967330, a functional variant of CDHR3, with asthma exacerbation and rhinovirus infections in African Americans. M. March. 818W Tissue and sex-specific gene expression patterns during pubertal development. H. Hou. 819T Polymorphisms of genes involved in extracellular matrix homeostasis of tendons and the risk of rotator cuff tears. M. F. Leal. 820F HLA association analysis and haplotype analysis identify susceptible alleles of HLA class II to tuberculosis. L. Toyo-oka. 821W Survey of Rare and Common Genetic Variation in Putative Risk Loci for Primary Open-angle Glaucoma. R. P. Igo. 822T Variants in the HLA-DQB1 region confer susceptibility to age-related macular degeneration. E. Jorgenson. 823F Heterogeneity in expression of HLA class II genes provides evidence for unexpected functions of their products. E. Hesselberg. 824W Identification and functional analysis of chronic pancreatitis-associated deep intronic variants in the SPINK1 gene. WB. Zou. 825T Modeling Autism by Candidate Gene Editing in Human Induced Pluripotent Stem Cells. E. Deneault. 826F Prevalence of HLA-DQ alleles, PTPN22 gene functional variant R620W, and three autoantibodies in Kuwaiti Arab children with Type-1 Diabetes Mellitus. M. Z. Haider. 827W Revealing the functional effect that relates PTPN2 SNPs to rheumatoid arthritis. M. Houtman. 828T Uncommon PGRN deletion and FTD responsible for phenotype variability in three familial cases. E. Vitale. 829F Role of endothelial nitric oxide synthase (eNOS) G894T polymorphism in ischemic stroke susceptibility: A case-control study in North Indian population. A. Kaur. 830W The type 1 diabetes susceptibility gene CLEC16A restrains NK cell function by modulating expression of NK receptors via C Vps-HOPS complex, CART and autophagy. R. Pandey. 831T‡ Capture Hi-C reveals a novel causal gene, IL20RA, in the pan-autoimmune genetic susceptibility region 6q23. G. Orozco.
‡ Indicates Reviewers’ Choice Abstract The author listed is the first/presenting author that submitted the abstract. The letter following each poster number indicates the day that authors will be present at their posters. W=Wednesday; T=Thursday; F=Friday. Taking photographs or recording posters is strictly prohibited if the author has displayed the no photography symbol. You agreed to adhere to this policy when registering.
POSTER SESSIONS
800W Assessing a genetic risk score for type 2 diabetes with abdominal obesity in a Korean population. J. Lee.
816T Metabochip study of body composition measures in black South Africans reveals novel insights into obesity risk loci. Z. Lombard.
120 POSTER SESSIONS 832F The genetic architecture of human ear morphology. K. Adhikari. 833W Genetic variants associated with gene expression in the lung and asthma susceptibility. J. C. Berube. 834T Temporal Expression Profiling Identifies Pathways Mediating Effect of Causal Variant on Phenotype. S. Gupta. 835F Lung disease-associated SNPs and lung eQTLs in the major histocompatibility complex (MHC). M. Lamontagne. 836W Impact of common variation at diabetes locus MTNR1B on sleep, circadian, and melatonin physiology. J. M. Lane. 837T The role of conditional genetic effects in determining human longevity. S. Ukraintseva. 838F Integrative In-Silico Functional Characterization of Celiac Disease Susceptibility Variants. N. A. Shaik. 839W Examining the causal effect of Vitamin D on childhood caries: A Mendelian Randomization study. T. Dudding. 840T Allele-specific enhancers mediate associations between LCAT and ABCA1 polymorphisms and HDL cholesterol levels. A. D. Howard. 841F A functional regulatory variant associated with type 2 diabetes and fasting glucose levels at the ADCY5 locus. T. S. Roman. 842W Understanding the genetic involvement in retinopathy of prematurity by a functional genomics and protein profiling. I. Kaur. 843T A Lupus-associated variant in purine nucleoside phosphorylase (PNP) causes cell cycle abnormalities. Y. Ghodke-Puranik. 844F Deciphering the biological role of C1orf106, a susceptibility gene in inflammatory bowel disease. C. Levesque. 845W Characterising the causal mechanism at the 5q11 susceptibility locus associated with rheumatoid arthritis. K. McAllister. 846T To determine the biological role of GPR65, a gene associated to chronic inflammation. V. Mercier. 847F In Vivo Modeling Implicates APOL1 in Nephropathy: Evidence for Dominant Negative Effects and Epistasis under Anemic Stress. B. R. Anderson. 848W Association analysis of TNF (-308G>A) polymorphism in Polycystic Ovary Syndrome cases. R. Kaur.
849T Regulatory variant alters expression of CRISPLD2, a nonsyndromic cleft lip and palate gene. L. Maili. 850F Identification of Genotype Driven Gene Expression Changes in Human Kidneys. Y. Ko. 851W A polymorphic transposable element regulates FADS1 expression. C. Wadelius. 852T Novel human DNA Identikit using SNVs in the Fluidigm Nano fluidic Dynamic Arrays. D. Bercovich. 853F Functional characterisation of the osteoarthritis susceptibility locus marked by the polymorphism rs10492367 at chromosome 12p11.22. K. Johnson. 854W Long-range modulation of PAG1 expression by 8q21 allergy risk variants. C. T. Vicente. 855T On the Prediction of Risk for Autism from Common Variants. L. Zhu. 856F Genomic variation in neuron-specific cell adhesion molecule “bar codes”: candidate mechanims for disease and phenotype influences on the brain connectome. G. R. Uhl. 857W Genetic interaction analysis of reported longevity-associated epistatic effects in healthy oldest old super-seniors. L. C. Tindale. 858T Crispld2 plays a role in neural crest cell migration and cell viability during zebrafish craniofacial development. Q. Yuan. 859F Integrative analysis for identification of shared markers from various functional cells/tissues for rheumatoid arthritis. S. Lei. 860W‡ Identification of Novel Metabolic Syndrome Loci by Combining Univariate GWAS Summary Statistics of Multiple Phenotypes. R. M. Salem. 861T Effect of RANK/RANKL/OPG gene polymorphisms on left ventricular diastolic dysfunction in thalassemia major patients. M. M. Singh. 862F Whole exome sequencing in families at high risk for Hodgkin lymphoma: identification of a predisposing mutation in the KDR gene. M. Rotunno. 863W Sequencing reveals novel, germline variants in BRIP1: an analysis of 1300 women diagnosed with breast cancer before age 40. C. Moyer. 864T Novel rare and common genetic variants associated with red blood cell traits identified in > 130,000 individuals genotyped on an exome array. N. Chami. 865F Heritability of Normal Human Facial Shape. J. B. Cole.
‡ Indicates Reviewers’ Choice Abstract The author listed is the first/presenting author that submitted the abstract. The letter following each poster number indicates the day that authors will be present at their posters. W=Wednesday; T=Thursday; F=Friday. Taking photographs or recording posters is strictly prohibited if the author has displayed the no photography symbol. You agreed to adhere to this policy when registering.
POSTER SESSIONS 121 866W Genetic Sharing and Heritability of Pediatric Age of Onset Autoimmune Diseases. Y. R. Li.
868F‡ Novel method to estimate regional genetic associations improves genetic scores performance. G. Pare. 869W Dissecting genetic and environmental contributors to asthma and allergy in two founder populations. M. Stein. 870T Maternal filaggrin mutations increase the risk of atopic dermatitis in children: an effect independent of mutation inheritance. J. Esparza Gordillo. 871F A meta-analysis of atopic dermatitis reveals novel loci. L. Vazquez. 872W‡ Chromatin regulatory circuitry defines inherited disease risk. O. Corradin. 873T‡ The Inheritance of human lifespan in 20th Century Scotland. P. K. Joshi. 874F Genome-wide heritability estimates of sporadic brain arteriovenous malformations. H. Kim. 875W Defining Endophenotypes of Age-related Macular Degeneration in the Amish. R. J. Sardell.
886F Polymorphisms in SLC6A3 and DBH genes of the dopaminergic pathway associated with resistance to M. tuberculosis infection. K. R. Fluegge. 887W UK BiLEVE: Novel loci and genetic architecture of FEV1 extremes in the first genetic study in UK Biobank. R. J. Allen. 888T The International Psoriasis Council Exome Chip Project: Exome arrays reveal known and novel coding variant associations. N. Dand. 889F A genome-wide association study of uterine fibroids confirmed by imaging in eMERGE. T. L. Edwards. 890W Clinical and genetic characteristics of novel emphysema distribution subtypes identified by unsupervised learning analysis. A. El Boueiz. 891T Y chromosome variation and complex traits: the Ygen consortium. I. Gandin. 892F Electronic health records empower the first genome wide association study of developmental dysplasia of the hip. K. Hatzikotoulas.
876T Missing heritability may be explained by the common household environment and its interaction with genetic variation. N. Wang.
893W Assessing the Shared Genetic Basis of Benign Prostate Hyperplasia and Prostate Cancer; The Kaiser Permanente Genetic Epidemiology Research on Adult Health and Aging (GERA) Cohort. J. D. Hoffman.
877F‡ Bayesian analysis of polygenic effects on BMI. J. H. Zhao.
894T GWAS of Urinary Metabolites within the Framingham Heart Study. J. E. Huffman.
878W‡ Comparison of Predictive Value of Genetic and Transcriptional Risk Scores. U. Marigorta.
895F Genome-wide association studies of upper airway microbial composition in a founder population. C. Igartua.
879T Identifying genes associated with maternal nondisjunction of chromosome 21. J. M. Chernus. 880F Genome-wide association study of 41 circulating cytokines. A. V. Ahola-Olli. 881W Analysis of pathways associated with Body Mass Index in individuals with multiple sclerosis. M. G. Durrant. 882T A comprehensive framework for fine-mapping disease loci across autoimmune diseases. A. Hadjixenofontos. 883F Genome-wide Study of Late-Onset Myasthenia Gravis: Confirmation of TNFRSF11A, and Identification of ZBTB10 and Three Distinct HLA Associations. M. F. Seldin. 884W‡ Multi-level Genome-wide Association Study on Bone Geometry and Microstructures. X. Fu.
896W Identifying genetic associations with waist-tohip ratio in Hispanic/Latino ancestral background groups: the HCHS/SOL Study. A. Justice. 897T Genome-wide association meta-analysis identifies novel variants associated with fasting plasma glucose in East Asians. B. Kim. 898F‡ Identification of four novel risk loci and functional causative elements in nonsyndromic cleft lip with or without cleft palate. K. U. Ludwig. 899W Copy number variation in FCGBP gene is associated with endometriosis development. F. A. Mafra. 900T Exome array-based genome-wide association study of fasting glucose level in Korean population. s. Moon.
‡ Indicates Reviewers’ Choice Abstract The author listed is the first/presenting author that submitted the abstract. The letter following each poster number indicates the day that authors will be present at their posters. W=Wednesday; T=Thursday; F=Friday. Taking photographs or recording posters is strictly prohibited if the author has displayed the no photography symbol. You agreed to adhere to this policy when registering.
POSTER SESSIONS
867T Height-specific polygenic score using common alleles predicts extreme height rank. R. H. Miller.
885T Identification of 10 novel uterine leiomyomata susceptibility loci by genome-wide association analysis in population-based conventional and directto-consumer cohorts. C. S. Gallagher.
122 POSTER SESSIONS 901F Replication study of whole genome association for caries in a Guatemalan population. N. Mukhopadhyay. 902W Identification of three additional susceptibility loci for ulcerative colitis through an Immunochip analysis in Koreans. H. Oh. 903T Investigation of genetic risk factors of very low birth weight infants within the German Neonatal Network. M. Preuss. 904F Novel genetic loci and Alzheimer’s disease genes influence retinal nerve fibre layer thinning: an European ancestry meta-analysis of 10,502 individuals. C. Venturini. 905W‡ Discovery of genetic associations underlying metabolically healthy obesity (MHO) and metabolically obese normal-weight (MONW). N. Y. Yang. 906T Reanalysis of 15 Genome-wide Association Data Sets Revealed Novel Inflammatory Bowel Disease Loci. Y. Zhang. 907F Copy Number Variations in CTNNA3 and RBFOX1 Associate with Pediatric Food Allergy. M. Bakay. 908W Burden Analysis of Copy Number Variation in Gallstone Disease. E. E. Perez-Palma. 909T The Contribution of Glycemic and Non-Glycemic Genetic Variants Identified Through a Trans-Ethnic Discovery Meta-Analysis of A1c to Type 2 Diabetes Prediction and Reclassification. E. Wheeler. 910F Genome-wide association study for Gallstone disease in Latin Chilean population. B. I. Bustos. 911W AS3MT, Other Genes and Arsenic Metabolism Biomarkers in American Indians: the Strong Heart Family Study. P. Balakrishnan. 912T Mega-analysis versus meta-analysis: On the gain of jointly imputing and analyzing 33,976 subjects compared to meta-analyzing study-specific aggregated genome-wide association statistics on the example of age-related macular degeneration. M. M. Gorski. 913F Epigenetic susceptibility and novel biomarkers for severe influenza A virus infection. A. Wenneström. 914W Functional linear models extensions uncover pleiotropic effects of chronic pain phenotypes. D. V. Zaykin. 915T A trans-ethnic meta-analysis of genome wide association studies reveals new loci associated with childhood obesity. J. P. Bradfield. 916F Genome-wide association study identifies EFEMP1 as a new candidate biliary atresia susceptibility gene. Y. Chen.
917W A genome-wide investigation of food addiction. M. C. Cornelis. 918T‡ Novel rare and low frequency variants associated with lipoprotein subclasses and triglyceride measures. J. P. Davis. 919F Genome-Wide Meta-Analysis on the Sense of Smell among US Older Adults. J. Dong. 920W Genome-wide association analysis for chronic vein insufficiency identifies two genes as the first susceptibility loci. D. Ellinghaus. 921T Trans-ethnic GWAS of pelvic organ prolapse among European American, African American and Hispanic post-menopausal women from the Women’s Health Initiative. A. Giri. 922F Genomewide Association of Polycystic Ovary Syndrome Implicates Alterations in Gonadotropin Secretion in European Ancestry Populations. M. Hayes. 923W The Netherlands Twin Register Axiom Biobank platform for GWAS. J. Hottenga. 924T Discoveries from platelet count genome-wide association study in the Hispanic Community Health Study: Study Of Latinos (HCHS/SOL). D. Jain. 925F Genome-Wide Association Study of HIVAssociated Neurocognitive Disorder (HAND): a CHARTER Group Study. P. Jia. 926W Genome-wide meta-analysis of histological phenotypes provides insights into the genetic architecture of human skeletal muscle. T. Karaderi. 927T Genome-wide association study of spontaneous preterm birth. M. Karjalainen. 928F Uncovering novel genes contributing to phenotypic heterogeneity in a common birth defect. E. J. Leslie. 929W Genome-wide association study of acute otitis media in children. J. Li. 930T Findings from the Initial Phase of the GSCAN Exome Chip Project. M. Liu. 931F A cis-eQTL near the ZNF682 gene is associated with risk for diabetic nephropathy in Pima Indians. I. Masindova. 932W Genome-wide association study of clinicallydefined gout identifies multiple risk loci: a clue for future companion diagnostics of gout. H. Matsuo. 933T Genome-wide meta-analysis of polycystic ovary syndrome in women of European ancestry identifies new loci in hormone pathways. C. Meun.
‡ Indicates Reviewers’ Choice Abstract The author listed is the first/presenting author that submitted the abstract. The letter following each poster number indicates the day that authors will be present at their posters. W=Wednesday; T=Thursday; F=Friday. Taking photographs or recording posters is strictly prohibited if the author has displayed the no photography symbol. You agreed to adhere to this policy when registering.
POSTER SESSIONS 123 950W Preliminary Genetic Association Analysis of Obstructive Sleep Apnea (OSA) and Obesity in Patients from Colombia. L. A. Morford.
935W Genome-wide association study to identify variants predisposing to severe bronchiolitis. A. M. S. Pasanen.
951T Phenome Wide Association Study of Human MHC Region in Marshfield Clinic PMRP. J. Liu.
936T A genome-wide association study using a custom genotyping array identifies variant in GPR158 associated with reduced energy expenditure and increased body mass index in American Indians. P. Piaggi. 937F Genetic variants associated with facial shape across continents. L. Qiao. 938W Genome-wide association study of complication of diabetes mellitus (DM) in Korean populations. SY. Rhee. 939T Genome-wide association studies of vitiligo implicate 100 loci in disease risk. S. Santorico. 940F Common Variants in PTGES Associated with Asthma Susceptibility in African Americans. P. Sleiman. 941W Genome-wide association study of urinary electrolytes-adjusted blood pressure. B. Tayo. 942T A scalable Bayesian method for integrating functional SNP annotations in genome-wide association studies. J. Yang. 943F GWAS of 25(OH) Vitamin D concentrations in Punjabi Sikhs: Results of the Asian Indian Diabetic Heart Study. B. R. Sapkota. 944W A Genome-Wide Association Study of MultiComorbidities: Towards a Genomic-Decision Aid for Health and Wellness Forecasting. K. Shameer. 945T‡ Meta-analysis of exome chip variants identifies common and rare variant associations for white blood cell counts in more than 132,000 participants. U. Schick.
952F‡ Pervasive pleiotropy between psychiatric disorders and immune disorders revealed by integrative analysis of multiple GWAS. Q. Wang. 953W Common susceptibility variants are shared between schizophrenia and psoriasis in the Han Chinese population. XY. Yin. 954T Meta-analysis of exome array data identifies two novel regions associated with lung function. V. E. Jackson. 955F‡ Genome-wide association analysis of a custom Pima Indian genotyping array identifies a female specific effect of common variation near TH/MIR4686 on risk for type 2 diabetes and reduced insulin secretion. L. Baier. 956W Analysis of sex-by-SNP interaction among geographically distinct cohorts reveals novel suggestive loci for IgA nephropathy. N. Mladkova. 957T Do myopia genes vary with age? J. W. L. Tideman. 958F Common genetic variants associated with thyroid function may be risk alleles for Hashimoto’s disease and Graves’ disease. P. Campbell. 959W DQA1 gene and type 1 diabetes. Y. Lee. 960T Estrogen receptor alpha gene (ESR1) variant is associated with specific clinical features of systemic lupus erythematosus patients in a Brazilian population. S. E. Lofgren. 961F Association of WNT pathway gene polymorphisms with nonsyndromic oligodontia. N. Dinckan.
946F Genome-wide interaction with insulin secretion risk score reveals novel loci contributing to type 2 diabetes etiology in African Americans. J. M. Keaton.
962W Meta-analysis of genome-wide imputed GWAS confirms known significant loci and identifies new suggestive loci in patients with Dupuytren´s disease. K. Becker.
947W‡ Amino acid variation in HLA class II proteins is a major determinant of humoral response to common viruses. C. Hammer.
963T Association of PLEKHA7, COL11A1, ST18 -PCMTD1 and ABCC5 polymorphisms with primary angle-closure glaucoma. J. Chen.
948T Integrative analysis of a GWAS for amino acids and acylcarnitines in whole blood and gene-expression data identifies six novel loci and reveals insight into regulatory mechanisms. M. Scholz.
964F Polymorphisms in Macrophage Migration Inhibitory Factor (MIF) And Disposition To Biliary Atresia Among Children. k. Sadek.
949F‡ Genetic association in narcolepsy suggests autoimmune origin. HM. Ollila.
965W Interactive analyses of INS (rs689), INSR (rs1799816) and PPP1R3A (rs1799999) polymorphisms with Type 2 Diabetes risk in Brahmin group of NorthWest India. A. Bhanwer.
‡ Indicates Reviewers’ Choice Abstract The author listed is the first/presenting author that submitted the abstract. The letter following each poster number indicates the day that authors will be present at their posters. W=Wednesday; T=Thursday; F=Friday. Taking photographs or recording posters is strictly prohibited if the author has displayed the no photography symbol. You agreed to adhere to this policy when registering.
POSTER SESSIONS
934F A common polymorphism in HIBCH is a cobalamin-independent determinant of methylmalonic acid concentrations in blood. F. Pangilinan.
124 POSTER SESSIONS 966T Genetic Risk Score Based on Type 2 Diabetes Variants Predicts Longitudinal Decline in -cell Function in Mexican Americans at Risk for Type 2 Diabetes. M. Black.
982F Genome-wide gene by disease interaction analysis identifies common SNPs at 17q21.2 that are associated with increased body mass index only among asthmatics. L. Wang.
967F Interaction Analysis of CAPN10 and PGC-1 Genes with Type 2 Diabetes in Three Unrelated Endogamous Groups of North-West India (Punjab): A Case-Control and Meta-Analysis Study. R. Sharma.
983W Metabolites of the one-carbon metabolism and the beneficial effects of the gene-Mediterranean diet interaction. A. Hadjisavvas.
968W The mechanism of cleft palate after palatal fusion. S. Suzuki. 969T An investigation of toll-like receptors in tuberculosis susceptibility reveals sex-specific associations for TLR8 polymorphisms. M. Salie. 970F Genetic associations with non-fasting metabolite concentrations. D. O. Mook-Kanamori. 971W Rare genomic variants in PARD3 are potential risk factors for human cranial neural tube defects. X. Chen. 972T Replication of GWAS findings for cleft lip/palate in a Han Chinese population. Z. Jia. 973F Genotyping analysis of 3 RET polymorphisms demonstrates low somatic mutation rate in Chinese Hirschsprung disease patient. Q. Jiang. 974W Targeted next generation sequencing identifies genetic regions influencing the development of chronic obstructive pulmonary disorder in a population from northern Sweden. J. Klar. 975T Genetic variant near PLXDC2 gene influences the risk of primary open-angle glaucoma by increasing intraocular pressure. F. Mabuchi. 976F Gene-hormone therapy interaction and fracture risk in postmenopausal women. Y. Wang. 977W Exploring interactions between genetic variation under linkage peaks and cigarette smoking on body weight in families. K. L. Edwards. 978T Genome-wide analysis of gene interactions with an environmental risk score for colorectal cancer risk. M. Du. 979F Interaction between variants in CLU and MS4A4E modulates Alzheimer’s disease risk. M. Ebbert. 980W A Genome-Wide Gene-Environment Interaction Study on Dyslipidemia between Genes and Obesity Traits. M. Kang. 981T Interaction between genotypes at OPRM1 and CHRNA5 and an adolescent substance prevention intervention on smoking during high school. D. J. Vandenbergh.
984T African ancestry is associated with intraocular pressure in Latinos. X. Gao. 985F Reproductive Performance and PON1 L55M Gene Polymorphism in Women Occupationally Exposed to Organophosphate Pesticides. M. Hema Prasad. 986W Obesity-mediated eQTLs identify sex-hormone effects in obese Finnish men. A. Ko. 987T Evidence for a causal association between obesity and multiple sclerosis through direct and indirect pathways: Results from the Kaiser Permanente MS Research Program. L. F. Barcellos. 988F Identification of novel candidate genes and pathways for Parkinson Disease through genebased association tests of rare sequence variants. K. Nuytemans. 989W Mitochondria haplogroup analysis in primary open angle glaucoma suggests an association with haplogroup T2. J. L. Wiggs. 990T Cytochrome P450 and Matrix Metalloproteinase Genetic Modifiers of Disease Severity in Cerebral Cavernous Malformation Type 1. H. Choquet. 991F Identification of NSCL/P candidate genes following knockdown of crispld2. B. Chiquet. 992W SNPs, Linkage Disequilibrium and Transcriptional Factor Binding Sites Associated with Acute Mountain Sickness among Han Chinese at the Qinghai-Tibetan Plateau. N. Buroker. 993T Neural tube defect candidate genes are associated with a fumonisin B1 biomarker among atrisk Guatemalan women. M. Garrett. 994F Regulatory annotations implicate thousands of independent disease-associated variants. A. K. Sarkar. 995W Cholesterol transport and beta-amyloid regulation polygenic risk scores as predictors of beta-amyloid levels in a sample at increased risk for Alzheimer’s disease. B. F. Darst. 996T Genome-wide gene-set analysis identifies different patterns of genetic sharing across complex phenotypes. H. Gui. 997F Integrated molecular phenotyping in chondrocytes identifies genes and pathways disrupted in osteoarthritis. J. Steinberg.
‡ Indicates Reviewers’ Choice Abstract The author listed is the first/presenting author that submitted the abstract. The letter following each poster number indicates the day that authors will be present at their posters. W=Wednesday; T=Thursday; F=Friday. Taking photographs or recording posters is strictly prohibited if the author has displayed the no photography symbol. You agreed to adhere to this policy when registering.
POSTER SESSIONS 125 1013W Study of the genetic architecture of diabetic retinopathy in African Americans from a de-identified medical records system. N. Restrepo.
999T A cell type specific gene expression signature of Alzheimer’s disease pathogenesis from meta-analysis of publically available microarray data. J. Chen.
1014T Bioinformatics Infrastructure for the Partners Biobank Initiative. E. A. Tsai.
1000F Promoter polymorphisms in Wnt signaling pathway are associated with tuberculosis risk in Chinese subjects. X. Hu. 1001W‡ Mining Longitudinal BMI, as a Cachexia Proxy, for Common Genetic Determinants among COPD and Cancer Cases in the Framingham Heart Study. M.-L. N. McDonald. 1002T Novel pathways identified from blood-based transcriptomic profiling of kidney function and chronic kidney disease in the Framingham Heart Study. A. Y. Chu.
1015F Possibilities in Unbiased Population Based Research Using Neonatal Screening Biobanks. J. Grauholm. 1016W‡ Correlation Between Genetic Ancestry Proportions and Thousands of Common Disease States in Admixed Populations. J. Jeff. 1017T Discovery of disease-specific eQTLs aids interpretation of GWAS results in systemic lupus erythematosus. A. Wuster. 1018F Enhanced methods for gene expression imputation from genetic variation data. N. Mancuso.
1003F Whole exome sequencing of very early-onset inflammatory bowel disease shows both family-based and case/control associations with CCDC40 and MAPK12. C. J. Cardinale.
1019W Metabolomic profiles during an oral glucose challenge in 470 non-diabetic community residents: Associations with clamp-evaluated insulin sensitivity. C. Nowak.
1004W Mutational burden in candidate genes for Chiari Type I Malformation is associated with the cooccurrence of connective tissue disorders. K. Soldano.
1020T‡ Assessing the Genetic Predisposition of Education on Myopia: a Mendelian Randomization Study. G. Cuellar-Partdia.
1005T Identifying genetic variants underlying selfreported composing and arranging. J. Oikkonen.
1021F Bone marrow mesenchymal stem cell molecular signatures in multiple sclerosis. F. B. S. Briggs.
1006F Combined Linkage and Association Analyses Identify ANGPT2 Associated with Nocturnal Oxygen Saturation. H. Wang.
Psychiatric Genetics, Neurogenetics and Neurodegeneration
1007W Association of asthma with innate immune genetic variants and interactions with early life viral infections. L. Akhabir. 1008T Whole genome linkage study for caries risk in Guatemalans identifies novel genetic regions. M. Govil. 1009F‡ Child’s HLA-DRB1 genotype increases maternal risk of systemic lupus erythematosus (SLE): results from the Mother-Child Immunogenetic Study in Autoimmunity (MCIS). G. I. Cruz. 1010W‡ Gene-based analysis in a family-based sample using Generalized Least Square (GLS) approach identified novel IBD locus supported by strong eQTL evidence. D. Li. 1011T Analysis of Comorbidities of Multiple Sclerosis Patients using an Electronic Medical Record-linked DNA Biobank. S. Frodsham. 1012F The Role of Mendelian Genes in Complex Disease Risk. K. P. Shah.
1022W A recurrent missense mutation in CACNA1G/ Cav3.1 S4 segment alters channel activity in autosomal dominant cerebellar ataxia. M. Coutelier. 1023T Identification of candidate genes for IQ discrepancy in extended families with autism using whole exome sequencing data. A. Q. Nato. 1024F Language impairment in autism spectrum disorder: a sensitive indicator of functioning in genomic copy number changes? C. W. Bartlett. 1025W Two microdeletions that segregate independently in a family, suggesting three candidate genes for autism and motor delay at 12q12 and two candidate genes for cerebral palsy at Xp22.13. JDJ. Labonne. 1026T Integrative Analysis of Human Protein Complexes Reveals Biochemical Activities and Convergent Mechanisms of Action in Autism Spectrum Disorders. J. Li.
‡ Indicates Reviewers’ Choice Abstract The author listed is the first/presenting author that submitted the abstract. The letter following each poster number indicates the day that authors will be present at their posters. W=Wednesday; T=Thursday; F=Friday. Taking photographs or recording posters is strictly prohibited if the author has displayed the no photography symbol. You agreed to adhere to this policy when registering.
POSTER SESSIONS
998W Identification of disease-specific eQTLs in asthma and COPD cases but not healthy controls. D. C. Croteau-Chonka.
126 POSTER SESSIONS 1027F Effect of Vitamin D supplementation on NFE2L2 or Nrf2 gene expression in multiple sclerosis patients. R. Amirinejad. 1028W Association analysis of rs823144 polymorphism of RAB7L1 gene in Parkinson’s disease in Iranian population. B. Emamalizadeh. 1029T Mapping Genes Using a Hidden Markov Model for Bipolar Affective Disorder in Consanguineous Families. R. S. Harripaul. 1030F Analysis of rs1572931 polymorphism of RAB7L1 gene in Parkinson’s disease in Iranian patients. A. Khaligh. 1031W Small CNVs in Major Depressive Disorder. DL. Nuñez Ríos.
1043W Targeted neurogenesis pathway-based gene analysis identifies ADORA2A associated with hippocampal volume in mild cognitive impairment and Alzheimer’s disease. E. Horgusluoglu. 1044T Don’t lose the forest for the trees: New insights into juvenile psychosis from chromosomal microarrays. C. A. Brownstein. 1045F Genetic Association Study Suggests FOXA1 Could Be a Common Regulator of Epilepsy Electroencephalogram Endophenotype and Reading Disability Comorbidity. N. Panjwani. 1046W Exome sequencing in a cohort of patients with microcephaly and related conditions: Identification of known and novel disease genes and the lessons learned. A. T. Pagnamenta.
1032T A novel neurogenetic disorder with STARD9 mutation. N. Okamoto.
1047T Gene-gene interaction analysis of mitochondriarelated genes in the risk of Parkinson’s disease and Alzheimer’s disease. S. J. Chung.
1033F Copy Number Change (CNC) in chromosomal region 3p26.3, is consistently associated with the ADHD phenotype in a large sibship. N. Kapalanga.
1048F‡ Deletion in ABCA7 associated with Alzheimer’s disease in African Americans. H. N. Cukier.
1034W Missense mutations in GPT2 are associated with autosomal recessive nonsyndromic intellectual disability. T. Lobo-Prada. 1035T Effects of DCDC2 and KIAA0319 in a casecontrol sample for reading disability in African American and Hispanic American children. D. T. Truong. 1036F Genetic susceptibility loci for late-onset Alzheimer’s disease and the prevalence of subjective memory loss in healthy, older adults. D. A. Carere. 1037W Aging-related miRNAs are associated with schizophrenia and verbal memory impairment. E. Quillen. 1038T Neurodevelopmental Copy Number Variants and Clinical Risk: a Pediatric Medical Record Population Study. K. Ahn. 1039F Using a tiered cross-disorder approach to identify and confirm candidate genes for brain disorders. A. Gonzalez-Mantilla.
1049W Towards the identification of new genes in recessive Parkinson’s disease. V. Drouet. 1050T Molecular study of PMP22 gene duplication by MLPA and point mutations of MPZ and MFN2 genes in Charcot–Marie–Tooth patients in northwest of Iran. P. Aob. 1051F A LRRK2 haplotype provides protection for Korean multiple system atrophy. E. Scott. 1052W Parkinson’s disease and genetic variability in a French Canadian isolate. L. Sellmer. 1053T Association between serotonin transporter VNTR and depression at 12 months post aneurysmal subarachnoid hemorrhage. A. Stanfill. 1054F Childhood Maltreatment Associates with Long Non-Coding RNAs Differentially Expressed in the Rostral Anterior Cingulate Cortex. Y. Zhou.
1040W Association analysis of polymorphisms in the dopaminergic pathway and cognitive measures in the Diabetes Heart Study. S. E. Martelle.
1055W Follow-up of the SNP rs1156026 association with schizophrenia in a Quebec sample reveals a complex interplay with DNAJC15 deletions in predicting schizophrenia and bipolar disorder. A. Bureau.
1041T Epigenetics of serotonin 1B receptor: analysis of suicidal behavior in mood disorder and schizophrenia. A. Bani-Fatemi.
1056T Genetic and functional analysis of neurodevelopmental genes associated with schizophrenia in Indian population. A. Jajodia.
1042F Exploration of a multiplex family with synesthesia and autism using whole genome sequencing. A. Mathieu.
1057F Follow-up of linkage signals in the Quebec Kindred sample of schizophrenia and bipolar disorder using RNA expression and large scale SNVs analysis reveals potential candidate genes. Y. Chagnon.
‡ Indicates Reviewers’ Choice Abstract The author listed is the first/presenting author that submitted the abstract. The letter following each poster number indicates the day that authors will be present at their posters. W=Wednesday; T=Thursday; F=Friday. Taking photographs or recording posters is strictly prohibited if the author has displayed the no photography symbol. You agreed to adhere to this policy when registering.
POSTER SESSIONS 127 1074T A polymorphism in CRAT is associated with HLA-DQB1*06:02 negative essential hypersomnia. T. Miyagawa.
1059T Quantitative trait loci analysis of the serotoninNAS-melatonin pathway in Autism Spectrum Disorders. M. Benabou.
1075F Search for new susceptibility genetic factor associated with panic disorder-pathway analyses based on genome-wide association study. M. ShimadaSugimoto.
1060F Function-based GWAS identifies novel candidate genes in autism spectrum disorder. L. K. Davis. 1061W Linkage analysis revisited: three regions of potential risk found in extended multiplex Autism Spectrum Disorder (ASD) families. S. Luzi. 1062T The burden of Multiple Sclerosis variants in continental Italians and Sardinians. S. Sanna. 1063F Identification of pleiotropic loci involved in the comorbidity of addiction with major depression and anxiety using randomly ascertained extended pedigrees. K. Hodgson. 1064W Genome-wide association study for facet-level traits of neuroticism in a health study cohort of Korean adults. S. Kim. 1065T Genetic loci in periodic hypersomnia/KleineLevin syndrome type. E. Mignot. 1066F‡ An international, collaborative genomewide association study of Tourette Syndrome in 13,000 individuals identifies a non-coding RNA expressed early in human brain development as a TS susceptibility gene. J. M. Scharf. 1067W ADHD risk loci identified by genome-wide association meta-analysis. D. Demontis. 1068T A novel oligogenetic framework identifies age of onset modifying mutations in Alzheimer’s disease. J. I. Vélez. 1069F Genome wide association in families identifies a genetic basis for two components of speech, phonological processing and articulation. H. VossHoynes. 1070W Genome-wide linkage and family-based association in the Western Australian Family Study of Schizophrenia (WAFSS). N. S. McCarthy. 1071T UK BiLEVE, the first genetic study in UK Biobank, identifies 5 novel regions associated with smoking behaviour. M. D. Tobin. 1072F Investigation into the Genetics Underlying Receptive Vocabulary Processing. A. K. Adams. 1073W Cross disorder analyses in attention deficit hyperactivity disorder and autism spectrum disorder: An update. M. Mattheisen.
1076W Genome-Wide Association Study Implicates Protein Kinase N2 as a Risk Factor in Persistent Drug Abuse in Intravenous Drug Users. S. C. Wang. 1077T Genetic risk variants converge in NMDAR interactome underlying schizophrenia. Z. Wei. 1078F Population-level identity-by-descent haplotype sharing provides insight into demographic history and autism spectrum disorder. A. R. Martin. 1079W‡ Cross-disorder analysis of 23 brain diseases and 200,000 patients using shared heritability methods reveals novel patterns in the genetic susceptibility to brain diseases. V. Anttila. 1080T Genome-wide parametric multipoint linkage analyses of extended Alzheimer’s disease (AD) families identifies a Chromosome 1 risk locus for familial lateonset AD. J. Jaworski. 1081F Identification of chromosomal regions interacting with susceptibility loci for Alzheimer’s disease. M. Kikuchi. 1082W A variant in Sarcolemma Associated Protein (SLMAP) achieves genome-wide significance in African Americans with Alzheimer’s disease using informed conditioning on clinical covariates. J. Mez. 1083T Novel risk variants and the genetic architecture of amyotrophic lateral sclerosis. W. van Rheenen. 1084F Variants in CNTN5 Associated with ADHD Susceptibility: A Meta-Analysis of Two Pediatric Cohorts. J. J. Connolly. 1085W Identifying Genetic Modifiers of an Inherited Peripheral Neuropathy in a GWAS Design. F. Tao. 1086T‡ Investigating the Genetic Architecture of Major Depression and Body Mass Index in 10649 Han Chinese Women using Sparse Whole Genome Sequencing and Molecular Signatures of Stress. R. Peterson. 1087F‡ Sparse whole genome sequencing identifies two loci for major depressive disorder. T. B. Bigdeli. 1088W Cross-Disorder Genome-Wide Analyses and Genetic Relationship between ASD and OCD. W. Guo. 1089T Identification of novel genetic variants of DSM-5 alcohol use disorder: Exome Array analyses in NESARC-III. J. Jung.
‡ Indicates Reviewers’ Choice Abstract The author listed is the first/presenting author that submitted the abstract. The letter following each poster number indicates the day that authors will be present at their posters. W=Wednesday; T=Thursday; F=Friday. Taking photographs or recording posters is strictly prohibited if the author has displayed the no photography symbol. You agreed to adhere to this policy when registering.
POSTER SESSIONS
1058W Next-generation profiling to identify the molecular etiology of Parkinson’s dementia. A. Henderson-Smith.
128 POSTER SESSIONS 1090F Genome-wide Linkage on Chromosome 10q26 for a Dimensional Scale of Major Depression. E. E. M. Knowles. 1091W Bivariate linkage and association for recurrent major depression and right hippocampal volume. S. R. Mathias. 1092T Genome-Wide Association Study of Smoking Quantity in American Populations: Identification of Novel Risk Loci in Both African- and EuropeanAmericans. J. L. Montalvo-Ortiz. 1093F Genetics of depression across adolescence. H. M. Sallis. 1094W Schizophrenia Polygenic Risk Score is Strongly Associated with Bipolar 1 Disorder in a Multi-ethnic Sample. C. Schaefer.
1106W‡ No Evidence That Differences In Cortical DNA Methylation Contribute to Autism. S. Ellis. 1107T Distinct biomolecular modules group and distinguish autism genes. F. Hormozdiari. 1108F Utilizing whole-exome sequencing in a multiplex family with autism spectrum disorder. E. Koparir. 1109W One in three de novo variants seen in Autism Spectrum Disorder probands are present as standing variation in a cohort of more than 60,000 non-ASD individuals. J. A. Kosmicki. 1110T Investigating Somatic Mosaicism in Simplex Autism Spectrum Disorder. D. Krupp. 1111F CNV Burden in ASD and its Association with Developmental and Behavioral Impairment. J. M. Lee.
1095T Genetics of Alcohol Drinking Behaviors for Koreans: a Population with One Third of Slow Metabolizers. S. Son.
1112W Genetic analysis for circadian rhythm abnormality in autism spectrum disorder. A. Matsumoto.
1096F Genome-wide meta-analyses identify copy number variation associated with alcohol dependence in African and European populations. A. Sulovari.
1113T Rare loss-of-function mutations in ASD individuals. D. P. Moreira.
1097W Cooperativeness Character Domain of Temperament and Character Inventory (TCI) is Associated with 15q26.3 region in General Korean Population. S. Yang. 1098T Exome-wide rare variant analyses reveal NT5DC1 gene as a new candidate gene for adult ADHD. T. Zayats.
1114F Mitochondrial Variants in Autism Spectrum Disorder through off target exome read analysis. A. Patowary. 1115W A 1.5Mb terminal deletion of 12p associated with autism spectrum disorder. S. Raskin. 1116T‡ Autism gene discovery in rare female-enriched multiplex families (FEMFs). J. M. Tilghman.
1099F RNA-sequencing identifies differentially expressed novel gene isoforms in bipolar disorder. N. Akula.
1117F Whole exome sequencing in autism spectrum disorder: confirmation of ASD-risk genes and identification of new candidates. J. Van-Gils.
1100W A search for novel causative genes for autosomal recessive hereditary spastic paraplegia based on exome sequencing of singletons from individual families. H. Ishiura.
1118W A case of Autism Spectrum Disorder with a novel SRCAP mutation. S. Walker.
1101T Characterization of the transcriptome of vestibular dysfunction associated with SLC26A4 mutations. Y. H. Chan. 1102F The genetic architecture of Autism Spectrum Disorders in the Faroe Islands. C. Carton. 1103W Whole exome sequencing of parent-proband trios to identify genes implicated in hyperserotonemia and autism spectrum disorder. R. Chen.
1119T Identification of rare disruptive variants in voltage-gated channel genes (CACNA1C, CACNA1D, CACNA1S, CACNA1I) in Japanese samples of schizophrenia and autism spectrum disorder using Ion Torrent PGM platform. C. Wang. 1120F Rare bi-allelic mutations in autism spectrum disorder illuminate gender differences and highlight novel genes. T. W. Yu. 1121W‡ Genome-wide de novo mutation landscape in Autism Spectrum Disorder. R. K. C. Yuen.
1104T Assessing the impact of inherited and de novo CNVs in Autism Spectrum Disorder in high-risk infant siblings using high-resolution microarrays. L. D’Abate.
1122T‡ The Alzheimer’s Disease Sequencing Project (ADSP) Discovery Phase: Data Production, Management, and Availability. A. B. Partch.
1105F Identification of de novo and rare inherited mutations in autism spectrum disorder by whole genome sequencing. H. El-Shanti.
1123F Identification of candidate genes in familial early-onset essential tremor: whole exome sequencing study. L. Clark.
‡ Indicates Reviewers’ Choice Abstract The author listed is the first/presenting author that submitted the abstract. The letter following each poster number indicates the day that authors will be present at their posters. W=Wednesday; T=Thursday; F=Friday. Taking photographs or recording posters is strictly prohibited if the author has displayed the no photography symbol. You agreed to adhere to this policy when registering.
POSTER SESSIONS 129 1124W Rare susceptibility variants for familial bipolar disorder: a role for G protein-coupled receptors. C. Cruceanu.
1126F PCDH19-related Epileptic Encephalopathy: An unusual case of an affected male with mosaic de novo truncating variant in PCDH19 gene. I. Thiffault. 1127W Young Northern Finnish founder population reveals enrichment of rare recessive and dominant gene variants in neurodevelopmental disorders. M. I. Kurki. 1128T Exome and genome sequencing in Irish multiplex schizophrenia families. B. P. Riley. 1129F The Diverse Landscape of Structural Variation Contributing to Autism. R. L. Collins. 1130W Structural variation in 111 families at risk for Alzheimer’s disease from heterogenous whole-genome sequencing data. N. Zhang. 1131T Exome-based analysis of cardiac arrhythmia, respiratory control and epilepsy genes in sudden unexpected death in epilepsy. R. D. Bagnall. 1132F LGI2 heterozygous variant identified in a Japanese family with autosomal dominant cryptogenic West syndrome. N. Ishihara. 1133W Evaluation of variants from epilepsy patients referred for genetic screening. K. A. McCarty. 1134T Identification of non-coding RNAs related to familial mesial temporal lobe epilepsy by whole exome sequencing and Sanger validation. R. Secolin. 1135F SORL1 mutations and Parkinsonian features in early onset Alzheimer’s disease families. M. L. Cuccaro. 1136W Analysis of linkage and whole exome sequencing to identify novel alcohol dependenceassociated variants in extended European and African American families. M. Kapoor. 1137T Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome. A. Kikuchi. 1138F Identification of rare variants associated with age-related macular degeneration by whole exome sequencing in 41 extended families. R. Priya. 1139W Aggregated analysis of developmental disorders reveals novel risk genes and improves genetic diagnosis. K. Retterer.
1141F Whole genome sequencing of autism spectrum disorder extended families reveals risk genes and variants missed by exome sequencing. A. J. Griswold. 1142W Comprehensive genomic analysis and quantitative functional assays in model systems provides evidence for the “two-hit” model in genomic disorders. L. Pizzo. 1143T Meta-analysis of rare exome chip variants in 12,493 individuals identifies novel genes for white matter hyperintensities. X. Jian. 1144F Allelic diversity of human disease genes in a large multigenerational Old Order Amish pedigree. R. L. Kember. 1145W Combining autism and intellectual disability exome data yields insight into both disorders. K. Roeder. 1146T Mitochondrial genome sequence variation, mutation accumulation, heteroplasmy, and haplogroups associated with Alzheimer’s Disease. X. Wang. 1147F Using zebrafish to model the role of GEMIN5 in neurological disease. K. Schaffer. 1148W Mutation analysis of the WNT7A and interaction study with the DISC1 in schizophrenia. M. Cheng. 1149T‡ The Alzheimer’s Disease Sequencing Project Discovery Phase: Case-Control Study Design, Progress, and Preliminary Results. J. C. Bis. 1150F Novel ABCC1 variant associated with frontotemporal dementia. M. De Both. 1151W Rare Loss of Function Variants from Immune System Genes and Brain Over-expressed Genes are Enriched in Alzheimer’s Disease Patients Compared to Centenarians. Y. Freudenberg-Hua. 1152T Exome sequencing identifies novel genes associated with Multiple System Atrophy. A. Siniard. 1153F Rare coding mutations identified by sequencing of Alzheimer’s disease GWAS loci. B. N. Vardarajan. 1154W The percentage of sporadic amyotrophic lateral sclerosis patients with a known genetic etiology of disease is less than previously described. J. M. Downie. 1155T Identification of SPG11/KIAA1840 mutations in patients with autosomal recessive axonal CharcotMarie-Tooth disease. L. Pedace.
‡ Indicates Reviewers’ Choice Abstract The author listed is the first/presenting author that submitted the abstract. The letter following each poster number indicates the day that authors will be present at their posters. W=Wednesday; T=Thursday; F=Friday. Taking photographs or recording posters is strictly prohibited if the author has displayed the no photography symbol. You agreed to adhere to this policy when registering.
POSTER SESSIONS
1125T Exome sequencing in multiplex synaesthesia families identifies rare coding variants in genes within candidate linkage regions. K. S. Kucera.
1140T Identification of a Nonsense Mutation in PIDD in Pakistani Families with Non-Syndromic Autosomal Recessive Intellectual Disability Using Exome Sequencing. J. B. Vincent.
130 POSTER SESSIONS 1156F Uniparental disomy causing hereditary spastic paraplegia: Paternal disomy in FA2H causing homozygous SPG35 in two non-consanguine families. A. S. Soehn. 1157W A study on the Association of monoamine and glutamate gene polymorphisms with alcohol dependence in patients from North India. R. Gupta. 1158T Identification of ADHD candidate genes in large pedigrees combining linkage analysis and wholeexome sequencing. J. Corominas-Galbany. 1159F Novel L1 retrotransposon discovery in schizophrenia exomes. C. E. Krebs. 1160W Exome Sequencing Points to Roles of De Novo and Rare Transmitted Mutations in Bipolar Disorder. N. Matoba. 1161T CNTN6 mutations are risk factors for abnormal neurite outgrowth and autism spectrum disorders. O. Mercati. 1162F‡ Identification of five obsessive-compulsive disorder genes utilizing animal models, evolutionary constraints and regulatory information. H. Noh. 1163W Exome Sequencing in Multiplex Families with Bipolar Disorder Reveals Circadian Signaling Pathways. S. Ramdas. 1164T Unique Psychiatric and Non-Psychiatric Phenotypic Characterizations in relation to Copy Number Variants (CNVs) in a Schizophrenia Cohort. V. Sriretnakumar. 1165F Using exome sequencing to identify rare, de novo mutations in Tourette Syndrome families. D. Yu. 1166W Novel gene identification in familial Alzheimer’s disease. J. Rehker. 1167T Mutations in PTRH2 cause infantile-onset multisystem neurologic, endocrine, and pancreatic disease (IMNEPD). C. Hu. 1168F Modeling the association between loss-offunction GBA1 mutations and synucleinopathies with in vivo mouse models. N. Tayebi. 1169W‡ Transcriptomic analysis reveals convergent molecular pathways during the development of neurons derived from patients with idiopathic autism. B. A. DeRosa. 1170T‡ Dynamic regulation of RNA-editing in human brain development. T. Hwang. 1171F Longitudinal RNA-seq analysis of Parkinson’s disease patient-derived dopaminergic neurons. K. C. Belle.
1172W Disruptions to the miRNA regulatory pathway may cause an increased rate of schizophrenia in individuals with 22q11.2 DS. W. Manley. 1173T Neurodevelopmental disorders linked to damages in ARX-KDM5C path. A. Padula. 1174F‡ Human neuronal stem cell line validated as in vitro genomic model for studying neurodevelopmental disorders. A. P. S. Ori. 1175W‡ BRAINCODE: How does the Human Genome Function in Specific Brain Neurons? X. Dong. 1176T The expression of long non-coding RNA ANRIL do not affected by Vitamin D treatment in Multiple Sclerosis patients. M. Pahlevan Kakhki. 1177F Oligogenic inheritance in families with amyotrophic lateral sclerosis and frontotemporal dementia. S. M. K. Farhan. 1178W Duplication of 1q21.3-q22 in a child with developmental delay, dysmorphic features and obesity. I. O. Focsa. 1179T Targeted analysis of whole exome sequencing in early onset epilepsy. I. Guella. 1180F The NINDS Repository collection of patientderived biospecimens available for neurological disorders research. C. A. Pérez. 1181W The alternative expression of GAD1 in human prefrontal cortex. R. Tao. 1182T Functional impact of SNX14 mutations that cause cerebellar atrophy and intellectual disability. D. T. Bryant. 1183F Use of mutant mice to explore a hypothesis of neuronal/synaptic carnitine deficiency as a cause of autism. J. Ge. 1184W Glutamate receptor interacting proteins modulate AMPA receptor phosphorylation and social behaviors in mice. M. Han. 1185T‡ Functional Analysis of the Autism and Intellectual Disability Gene PTCHD1 Reveals Hedgehog Receptor-Like Functions and PDZ-Binding DomainSpecific Regulation of CNTNAP1 and NLGN1. K. Mittal. 1186F‡ Chromatin remodelers in autism: deciphering regulatory networks that contribute to autism risk. R. A. Muhle. 1187W Sonic hedgehog signaling involvement in bipolar disorder is supported by linkage disequilibrium near the EVC and HHIP genes for haplotypes of the D4S2949, D4S397 genotypes according to EVC genotypes among the Old Order Amish. Y. E. Song.
‡ Indicates Reviewers’ Choice Abstract The author listed is the first/presenting author that submitted the abstract. The letter following each poster number indicates the day that authors will be present at their posters. W=Wednesday; T=Thursday; F=Friday. Taking photographs or recording posters is strictly prohibited if the author has displayed the no photography symbol. You agreed to adhere to this policy when registering.
POSTER SESSIONS 131 1204F Identifying enhancer variants at the POU3F2 locus associated with both cognition and neuropsychiatric disease. S. Q. Shen.
1189F Role of ANK2 in autism. J. Li.
1205W A polymorphism in human -synuclein affects 3’UTR mRNA isoform expression. E. S. Barrie.
1190W Fine-mapping of regulatory variants in schizophrenia. K. Farh. 1191T Pathway analysis of genome-wide SNP data for Gilles de la Tourette Syndrome shows enrichment in genes expressed in nervous system tissues. F. Tsetsos. 1192F‡ A CT-rich intronic haplotype in the SNCA gene confers risk for Lewy Body pathology in Alzheimer's disease and affects SNCA expression profiles. O. Chiba-Falek. 1193W Layered genetic control of DNA methylation and gene expression: locus of multiple sclerosis in healthy individuals. J. Shin. 1194T‡ De novo BCL11A variants in neurodevelopmental disorder disrupt multiple aspects of protein function. S. B. Estruch. 1195F‡ Deciphering the genetic basis of intellectual disability using 1000 knockouts. B. Yalcin. 1196W Disassembly of MICOS complex by CHCHD10 mutations promotes loss of mitochondrial cristae with defectsin mitochondrial genome maintenance and apoptosis. E. Genin. 1197T Polr3a KI and KI/KO mice do not develop hypomyelinating leukodystrophy. K. Choquet. 1198F Evaluating the expression of the long non coding RNA lnc-IL7R and two isoforms of IL7RA gene in the PBMCs of relapsing-remmiting multiple sclerosis patients. P. Bina. 1199W Divergent transcription of the BDNF gene in human and mouse brain: relevance for schizophrenia. G. Ursini.
1206T Elucidating the molecular pathways in X-linked dystonia-parkinsonism (XDP): Expression profiling in blood and fibroblasts followed by target transcript analysis in iPSC-derived neurons. K. Freimann. 1207F Transcriptional networks disentangle cognitive decline from Alzheimer’s neuropathology. S. Mostafavi. 1208W Transcriptome analysis of human induced pluripotent stem cells and neural progenitor cells in Tourette’s Disorder. N. Sun. 1209T Gene expression profiling in LRRK2-G2019S purified iPSC-derived dopaminergic neuronal models of Parkinson’s disease. C. Webber. 1210F The effects of perinatal Fluoxetine (FLX) exposure in the modulation of neurodevelopment using the Shank3 e4-9/+ mutant mouse model. J. Murry. 1211W Multimodal twin research approach to identify genetic and environmental factors in neurodevelopmental disorders. K. Tammimies. 1212T An integrative disease-relevant multi-omics analysis to predict risk for stress-related psychiatric disorders. J. Arloth. 1213F Snus use is not associated with variation in the CHRNA5-CHRNA3-CHRNB4 gene cluster in Sweden, Norway and Finland. P. A. Lind. 1214W Toxicogenetic approach reveals strong genetic control of environmental toxicant levels and surprising relationship with autism susceptibility. M. Traglia. 1215T The role of translational control in schizophrenia. A. Dang Do.
1200T Gene expression profiles of cultured neural progenitor cells from patients with schizophrenia provide insight into the disease. C. Armoskus.
1216F Expression Profiles of miRNA in Peripheral Blood Associated with Post-Traumatic Stress Disorder in Military Service Members. C. Martin.
1201F Regulatory Function of SchizophreniaAssociated Variants in CACNA1C. N. Eckart.
1217W Lower Extremity Skeletal Muscle DNA Methylation in Chronic Stroke. H. Xu.
1202W A human-specific isoform of AS3MT regulated by a human-unique VNTR explains susceptibility to psychiatric illness associated with the 10q24.32 locus. M. Li.
1218T Sp1 modulation of APP and BACE1 activity as a drug target in Alzheimer’s disease. B. L. Bayon.
1203T Comparative transcriptomic and metabolomic profiling of psychiatric disorders across three brain regions. R. Ramaker.
1219F Extracellular RNA sequencing to identify RNA biomarkers of head impact in college athletes. R. Richholt. 1220W L-type voltage-sensitive calcium channel subunit (LVSCC)-A1C is associated with increased Parkinson disease risk only when plasma vitamin D concentration is deficient. L. Wang.
‡ Indicates Reviewers’ Choice Abstract The author listed is the first/presenting author that submitted the abstract. The letter following each poster number indicates the day that authors will be present at their posters. W=Wednesday; T=Thursday; F=Friday. Taking photographs or recording posters is strictly prohibited if the author has displayed the no photography symbol. You agreed to adhere to this policy when registering.
POSTER SESSIONS
1188T Genetic ablation of the long non-coding RNA Pantr2 affects cortical neuron migration and striatal gene expression in mice. M. Feyder.
132 POSTER SESSIONS 1221T Characterization of a missense variant in the fatty acid amide hydrolase gene (FAAH) in pharmacodynamic response to alcohol in nondependent social drinkers and alcohol-related traits in non-treatment-seeking drinkers and individuals seeking treatment for alcohol dependence. J. Yan. 1222F Brain-derived neurotrophic factor genetic polymorphism Val66Met does not interact with stress in Colombian MDD individuals. A. M. Gaviria-Manrique. 1223W The identification of novel genes in anxiety disorders: a gene x environment correlation and interaction study. N. W. McGregor.
1236T The Neurodevelopmental Spectrum Associated with SHANK-3 Mutations. P. Lawson. 1237F Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay. H. Saitsu. 1238W VarDB: a catalog of genetic variability in neurodegenerative disease. D. M. Evans. 1239T Genome-wide Association Study of Clinical Features in the Schizophrenia Psychiatric Genomics Consortium: Confirmation of Polygenic Effect on Negative Symptoms. A. Fanous.
1224T The interplay between risky sexual behaviors and alcohol dependence: a genome-wide investigation. R. Polimanti.
1240F C9ORF72 repeat expansions that cause frontotemporal dementia are detectable among patients with psychosis without dementia. V. Nimgaonkar.
1225F Genetic vulnerability of the 5-HTTVNTR (STin2) variant of the SLC6A4 gene in major depressive disorder and childhood stressors in a Colombian population. M. Tovar.
1241W An open-label trial in Friedreich ataxia suggests clinical benefit with high-dose resveratrol, without effect on frataxin levels. M. Delatycki.
1226W RNA-Seq uncovers specific genetic mechanisms in the hippocampus that are associated with behavioural and cognitive amelioration after environmental enrichment in a mouse model of prenatal alcohol exposure. A. Chokroborty Hoque. 1227T Large causal network analysis of transcriptional specialization in the brains of humans. M. Yang. 1228F Integrative Causal Network Analysis of Imaging and Genetic Data in Schizophrenia Studies. N. Lin. 1229W The use of genetic risk factors to assess prodromal brain changes in Alzheimer’s disease. M. K. Lupton. 1230T Investigating the non-linear association of anxiety-depression score with right lingual surface area. B. Couvy-Duchesne. 1231F A practical grading definition for the diagnosis of autosomal recessive spastic ataxia of CharlevoixSaguenay. I. Coupry. 1232W Animal model module of AutDB catalogues the effects of rescue agents on ASD phenotypes. I. Das. 1233T Phenotype-genotype associations in concordant and discordant monozygotic and dizygotic twins based on quantitative trait and case-control association analyses. V. Hu.
1242T Cell-free microRNA (miRNA) deregulation in the plasma of Friedreich’s Ataxia patients. D. Subrahamanyam. 1243F A neuronal/synaptic carnitine deficiency hypothesis for prevention of 10-20% of autism. A. Beaudet. 1244W A Mendelian randomization investigation of the causal relationship between atopic dermatitis and psychobehavioral outcomes. L. Paternoster. 1245T Using genetic information to predicting response to treatment in patients with epilepsy. I. Lopes-Cendes. 1246F Characterization of APOE and TOMM40 Allele Frequencies in a Japanese Population. H. Nonomura. 1247W Progression rate from intermediate to advanced age-related macular degeneration varies with the number of risk alleles at the CFH locus. P. J. Persad. 1248T Identification of IKAP responsive-genes as biomarkers for therapy of Familial Dysautonomia. E. Morini. 1249F Cancer frequency among Machado-Joseph disease/Spinocerebellar Ataxia Type 3. L. B. Jardim. 1250W Genetic aspects of sporadic spinocerebellar degeneration in the Japanese population. Y. Takahashi.
1234F Genetic involvement in progression of MS disease course. M. F. Davis.
1251T RAN Translation in Huntington disease. M. Banez-Coronel.
1235W Novel mutations in SPTAN1: expanding the neurological phenotype. V. Gartner.
1252F C9orf72 repeat expansion detection using shortread whole-genome sequencing data. M. A. Eberle.
‡ Indicates Reviewers’ Choice Abstract The author listed is the first/presenting author that submitted the abstract. The letter following each poster number indicates the day that authors will be present at their posters. W=Wednesday; T=Thursday; F=Friday. Taking photographs or recording posters is strictly prohibited if the author has displayed the no photography symbol. You agreed to adhere to this policy when registering.
POSTER SESSIONS 133 1269W Conditioning Adaptive Combination of P-values to Analyze Case-Parent Trios with or without Population Controls. W. Lin.
Statistical Genetics and Genetic Epidemiology
1270T Kernel-Based Association Mapping on the X Chromosome in Samples with Complex Structure. C. McHugh.
1254W‡ Can rare variants account for signals from common variants? F. Begum.
1271F Family-based rare variant association analysis: a fast and efficient method of multivariate phenotype association analysis. L. Wang.
1255T A Comparison Study of Fixed and Mixed Effect Models for Gene Level Association Studies of Complex Traits. C. Chiu.
1272W Prevalence of Allelic Heterogeneity in Genotype-Tissue Expression (GETx) data. F. Hormozdiari.
1256F A Statistical Approach for Testing Pleiotropic Effects of Rare Variants. M. P. Epstein.
1273T EIGEN: A spectral approach for the integration of functional genomics annotations for both coding and noncoding sequence variants. I. Ionita-Laza.
1257W‡ Functional Regression Models for Gene-based Association Studies of Complex Traits. R. Fan. 1258T A heterogeneity sequence association test identified novel genes of alcohol addiction in African Americans. W. Ouyang. 1259F Human Population Classification Based on Common and Rare Variants Using Random Forests, Artificial Neural Networks, and Support Vector Machines. M. Rao. 1260W A New Method for Detecting Associations with Rare Copy-Number Variants. J. Szatkieiwcz. 1261T An extended variance-component score test for association of multivariate phenotypes and gene-level rare variants. I. Patanam. 1262F A unified powerful set-based test for sequencing dataanalysis of GxE interactions of rare variants. Y. Su. 1263W Generalized linear Mixed Model Association Tests (GMMAT) for rare variants to control for population stratification and relatedness in sequencing studies with continuous and binary phenotypes. H. Chen. 1264T Robust association testing for quantitative traits and rare variants. P. Wei. 1265F High-dimensional genotypes and phenotypes in rare variant association studies. M. Pirinen.
1274F denovolyzeR : an R package for the interpretation of de novo variation in human disease. J. S. Ware. 1275W DISSECT: A new tool for analyzing extremely large genomic datasets. O. Canela-Xandri. 1276T Cost-effective omnibus meta-analysis of massive studies. H. Qin. 1277F Phasing using rare variants and large haplotype reference panels. K. Sharp. 1278W Minimac4: A next generation Imputation Tool for Mega Reference Panels. S. Das. 1279T Beyond homozygosity mapping: Family-control analysis based on Hamming distance for prioritizing variants in exome sequencing. A. Imai. 1280F Web application for statistical power calculations in genotype-based recall randomized controlled trials. N. Atabaki Pasdar. 1281W Structural equation modeling of tuberculosis immune response using genetic data and pedigree structure. N. B. Hall. 1282T FastPop: a rapid principle component derived method to infer intercontinental ancestry using genetic data. Y. Li.
1266W Rare Variants Association Analysis in LargeScale Sequencing Studies at the Single Locus Level. J. Y. Tzeng.
1283F Individualized Coherent Absolute Risk Estimator (iCARE): A Flexible Tool for Absolute Risk Estimation Using Genetic and Environmental Risk Factors. P. Maas.
1267T Evaluating Power and Sample Size Considerations for Gene Discovery in Rare Diseases. M. H. Guo.
1284W Doing better than best in linear mixed model association testing. J. A. Mefford.
1268F Rare variant association tests for pleiotropic traits in family studies. Y. Chiu.
1285T Analyzing case-parent trio data with the R package trio. H. Schwender.
‡ Indicates Reviewers’ Choice Abstract The author listed is the first/presenting author that submitted the abstract. The letter following each poster number indicates the day that authors will be present at their posters. W=Wednesday; T=Thursday; F=Friday. Taking photographs or recording posters is strictly prohibited if the author has displayed the no photography symbol. You agreed to adhere to this policy when registering.
POSTER SESSIONS
1253W Large-scale single-molecule sequencing of tandem repeats on the human X chromosome. A. Zablotskaya.
134 POSTER SESSIONS 1286F A new method for ancestry specific association mapping in admixed populations (asaMap). L. Skotte. 1287W Assessing mitochondrial DNA variation and copy number in lymphocytes of ~2,000 Sardinians using tailored sequencing analysis tools. J. Ding. 1288T PODKAT: a software package implementing the position-dependent kernel association test. U. Bodenhofer. 1289F An extension of Conditional Inference Forest methodology for predictive biomarkers and personalized medicine applications. B. Dizier. 1290W Axiom™ HLA Analysis – a tool to impute HLA types. Y. Lu. 1291T‡ Tag SNP selection for low frequency variant imputation in populations of diverse ancestry. G. L. Wojcik. 1292F A unifying method for multiple phenotype, multiple variance component mixed models. A. Dahl. 1293W MEGSA: A powerful and flexible framework for analyzing mutual exclusivity of tumor mutations. X. Hua. 1294T An improvement of the funNorm normalization method for methylation data from multiple cell or tissue types: funtooNorm. C. M. T. Greenwood. 1295F Leveraging the diploid genome to increase power in *QTL studies. M. Subramaniam. 1296W Firth Logistic Regression Reduces Estimation Bias for Rare Variant Analysis or Small-Sample Studies. H. Zhou. 1297T Longitudinal Gaussian graphical model integrating gene expression and sequencing data for autism risk gene detection. K. Lin. 1298F Allele Frequencies of Metabolic Syndromerelated SNPs in a Mexican Mestizo population. R. Arguello. 1299W Allele Frequencies of childhood-onset Acute Lymphoblastic Leukemia-associated SNPs in a Mexican Mestizo Population and their relationship with disease presentation. H. M. Arredondo. 1300T Deep learning and the prediction of human disease risk. N. Furlotte. 1301F Summary Statistics Imputation Utilizing Finemapping Approach. Y. Wu. 1302W The causal effect of adiposity on vascular dysfunction in healthy adolescents. K. H. Wade.
1303T Estimating aggregate penetrance of actionable genomic findings in European American and African American exomes. R. C. Green. 1304F Improved Association Testing with Linear Mixed Models by Modeling Non-Genetic Phenotypic Covariance Structures. M. Conomos. 1305W Using multi-way admixture mapping to elucidate TB susceptibility in the South African Coloured population. M. Daya. 1306T Multivariate genome-wide association study for metabolic syndrome. Y. Lee. 1307F Meta-analysis of genome-wide association studies with correlated individuals: application to the Hispanic Community Health Study / Study of Latinos (HCHS/SOL). T. Sofer. 1308W GWAS-based Mendelian-Randomization and Path Analyses of Causal Effects of Lipid Risk Factors on Coronary Artery Disease. Y. Tan. 1309T A Mendelian Randomization Study of the Effect of Type-2 Diabetes on Bone Mineral Density. O. S. Ahmad. 1310F Contribution of variants at genes expressed in fetal and adult pancreatic islets to type 2 diabetes risk. K. Gaulton. 1311W Single-variant and Gene-based Tests to Detect Genetic Loci Associated with Diabetic Retinopathy: 1000G Imputation and Whole Exome Sequencing Data. J. Kim. 1312T‡ Identification of Causal Mechanisms in Diabetes Pathophysiology in the Risk of Primary OpenAngle Glaucoma. L. Shen. 1313F Playing musical chairs in multi-phenotype studies improves power and identifies novel associations. H. Aschard. 1314W Reducing false-negative exclusion of GWAS by using redescription and computational topological analysis to identify complex phenotypes describing pathways. D. E. Platt. 1315T Using imputed genotype data in joint score tests for genetic association and gene-environment interactions in case-control studies. M. Song. 1316F Statistical properties of spatial regression based longitudinal analysis. T. Schwantes-An. 1317W Exploring genetic variants for anthropometric traits in Hispanic/Latino populations. M. Graff. 1318T A recall-by-genotype study linking ZNF804A variants to sleep neurophysiology phenotypes. L. J. Corbin.
‡ Indicates Reviewers’ Choice Abstract The author listed is the first/presenting author that submitted the abstract. The letter following each poster number indicates the day that authors will be present at their posters. W=Wednesday; T=Thursday; F=Friday. Taking photographs or recording posters is strictly prohibited if the author has displayed the no photography symbol. You agreed to adhere to this policy when registering.
POSTER SESSIONS 135 1337F A unified framework of association mapping for admixed samples. Y. Guan.
1320W‡ Genetically elevated fasting glucose levels and risk of hypertension in African Americans: a Mendelian randomization analysis. S. Tajuddin.
1338W Impact of gene-environment correlation on genome-wide analysis. C. Chen.
1321T Test of Genotypic Association Allowing for Sequencing Misclassification. L. Zhou. 1322F Novel Association Testing Based on Genetic Heterogeneity in GWAS. W. Pan. 1323W Admixture Mapping with Mixed Models. L. Brown. 1324T Novel Genetic Risk Prediction Model using Multiple Secondary Traits. W. Chung. 1325F Functional-Trait GWAS—Going Beyond SingleValue Traits. N. Fusi. 1326W‡ A general and flexible framework for metaanalyzing dependent studies with overlapping subjects in association mapping. B. Han. 1327T Semi-parametric Allelic Tests For Mapping Multiple Phenotypes: Binomial Regression And Mahalanobis Distance. A. Majumdar. 1328F Evaluation of GWAS-identified 55 SNPs for association with body mass index (BMI) in north Indian population. B. Mittal. 1329W The use of Complimentary Pairs Stability Selection as an approximation to analysis with replication data. J. A. Sabourin. 1330T‡ Using the Coriell Personalized Medicine Collaborative to illustrate the challenges in translating GWAS results to clinical care. L. B. Scheinfeldt. 1331F Identification of a possible susceptibility locus for UVB-induced skin tanning phenotype in Korean females using genome-wide association study. YA. Shin.
1339T Assortative mating causes biases in SNPheritability estimates. R. Tahmasbi. 1340F Multi-trait analysis of genomic heritability and genomic correlations in the Training Interventions and Genetics of Exercise Response (TIGER) study. A. I. Vazquez. 1341W Bivariate Analysis and Prediction of AMD progression Using Genetic Scores. Y. Ding. 1342T A novel gene-based analysis method based on MB-MDR. R. Fouladi. 1343F Identification of significant genetic variants via SLOPE and Group SLOPE. A. Gossmann. 1344W Allele Specific Expression Can Substantially Limit Genotype/Phenotype Associations. J. Dannemiller. 1345T Improved fine mapping using generalized likelihood ratios. W. Li. 1346F A new and scaleable Bayesian framework for joint re-analysis of marginal SNP effects. P. J. Newcombe. 1347W Test rare variants for multiple traits in admixed populations. X. Wang. 1348T Investigation of heterogeneity of genetic effects in severe malaria sub-phenotypes across sub-Saharan Africa, Asia and Oceania. G. M. Clarke. 1349F A High-Throughput Platform for Functional Validation of CFTR Variants. A. A. Sockell. 1350W The Prevalence of Nonclassic Congenital Adrenal Hyperplasia Mutations in the Ashkenazi Jewish Population. M. S. Elman.
1332W Joint analysis of multiple traits using optimal principal components of heritability. Z. Wang.
1351T Risk Prediction Modeling of Sequencing Data Using Random Field. Y. Wen.
1333T Privacy Leaks in Quality Control for Metaanalysis and Effective Countermeasures. W. Xie.
1352F Evaluation of stepwise and penalized regression methods in selecting a set of genetic predictors explaining quantitative trait variation. A. J. M. Sorant.
1334F Bayesian large-scale regression with GWAS summary statistics. X. Zhu. 1335W Genetic determined lipoprotein cholesterol levels and age-related macular degeneration. C. Y. Cheng. 1336T Detecting allele specific expression in large scale genetic expression studies using overdispersed Poisson linear models. G. Gliner.
1353W Characterizing power of adjusted-trait regression in GWAS with quantitative traits. P. Yajnik. 1354T Estimates of genetically regulated gene expression and associated genetic predictors explain variance of type 2 diabetes. J. Torres. 1355F Genetic Risk Score for Essential Hypertension and Risk of Preeclampsia. C. Smith.
‡ Indicates Reviewers’ Choice Abstract The author listed is the first/presenting author that submitted the abstract. The letter following each poster number indicates the day that authors will be present at their posters. W=Wednesday; T=Thursday; F=Friday. Taking photographs or recording posters is strictly prohibited if the author has displayed the no photography symbol. You agreed to adhere to this policy when registering.
POSTER SESSIONS
1319F A practical guide for GWAS based Mendelian randomization analysis. Y. Hu.
136 POSTER SESSIONS 1356W Isovaleryl-CoA dehydrogenase as a drug target for fibrotic idiopathic interstitial pneumonias. S. Ross.
1373F‡ Methodology for the analysis of multi-ethnic genome-wide association studies. J. P. Cook.
1357T Polygenic risk prediction model based on winner’s curse correction and multidimensional thresholding. N. Chatterjee.
1374W The LASER server: a web-based tool for tracing individual ancestry in a reference principal component space. D. Taliun.
1358F Impact of Surrogate Variable Analysis on eQTL Discovery and Application to RNA-Seq Data. C. Lu.
1375T Unified tests for fine scale mapping and identifying sparse high-dimensional sequence associations. S. Cao.
1359W‡ Estimating clinical outcomes and classifying CFTR variants of unknown significance in children with a positive newborn screening for Cystic Fibrosis. D. Conti.
1376F Evidence for Further Colorectal Cancer Susceptibility Genes in Addition to the Mismatch Repair Genes and MUTYH. M. Jenkins.
1360T Associations of high-risk genetic factors with dementia in the Korean elderly population. J. J. Lee.
1377W Methods for detecting modifier genes responsible for phenotypic heterogeneity. J. C. Carlson.
1361F A generalized joint location-scale association test for uncertain genotypes and related individuals. D. Soave.
1378T An effective approach to identify rare variants associated with common diseases utilizing large families. J. Sul.
1362W‡ Meta-Analysis for Discovering Rare-Variant Associations: Statistical Methods and Software Programs. Z. Tang.
1379F A family-based rare variant association test for time-to-event data based on the frailty model. W. Qi.
1363T Non-Parametric Analysis reveals Novel Genetic Associations with variation in Plasminogen Activator Inhibitor-1 levels. M. J. White. 1364F Evaluation of alternative imputation strategies for mega-analysis of multiple genotyping cohorts: maximizing imputation yield while minimizing artifacts. S. C. Nelson. 1365W Finding and characterizing latent genetic sub-structure for imprecisely defined phenotypes. H. Finucane. 1366T Implications of the Co-Dominance Model for Hardy-Weinberg Testing in Genetic Association Studies. S. Wellek. 1367F An approach combining the construction of haplotype collection and the design of populationoptimized SNP array on the large-scale whole genome-sequencing project in Japan. Y. Kawai.
1380W An approach to high resolution IBD mapping under a linkage peak. J. E. Hicks. 1381T Linkage Analyses Reveals Significant Association for Myopia. A. Musolf. 1382F Power of Single Extended Pedigrees to Classify Rare Variants of Uncertain Significance in BRCA1 and BRCA2. B. H. Shirts. 1383W Large-scale phenome-wide scan in twins using electronic health records. S. Hebbring. 1384T Detection of Gene-Gene Interaction and Genomic Imprinting in Affected Sib Pairs. C. C. Wu. 1385F Association and Meta-analysis Methods for X Chromosome. S. Feng. 1386W PSEUDOMARKER-WGS: Family-based association tests for whole genome sequence data. T. Hiekkalinna.
1368W Detecting the source of DNA contamination in genotyping arrays. G. J. M. Zajac.
1387T Statistical testing for rare variant associations using affected family members. K. Lin.
1369T Genetic architecture and disease prediction. E. Ziv.
1388F A Quasi-likelihood Approach To Detect Transmission Bias Using Sibship Data. H. S. Kulkarni.
1370F Plan a large-scale genetic association study for predictive modelling. C. Kuo.
1389W Increased power for detection of parent-oforigin effects via the use of haplotype estimation. R. A. J. Howey.
1371W The Alzheimer Disease Sequencing Project: Design and Sample Selection. G. Beecham. 1372T PMAD: Precision Medicine Adaptive Designs for Validation of Genetic Biomarker Information for Targeted Therapeutics. Q. Wu.
1390T The LRRK2 gene is a shared genetic regulator among three clinically divergent common inflammatory disorders. V. M. Fava.
‡ Indicates Reviewers’ Choice Abstract The author listed is the first/presenting author that submitted the abstract. The letter following each poster number indicates the day that authors will be present at their posters. W=Wednesday; T=Thursday; F=Friday. Taking photographs or recording posters is strictly prohibited if the author has displayed the no photography symbol. You agreed to adhere to this policy when registering.
POSTER SESSIONS 137 1391F The use of composite bi-allelic markers revisited: Creating highly informative multi-allelic markers from SNP and next generation sequence data. A. F. Wilson.
1393T Using genealogy clusters to find high-penetrant disease variants in the Danish population. A. Rosengren. 1394F‡ A two-stage rare variant association test for family data with quantitative traits. Y. Jiang. 1395W‡ Three networks comprised of both multiple sclerosis and obesity-associated genes demonstrate strong evidence of protein-protein interaction and significantly increase disease susceptibility: Results from the Kaiser Permanente MS Research Program. M. Gianfrancesco. 1396T‡ Sovereignty Hypothesis: Strong effect of HLA shared epitope alleles in developing risk for rheumatoid arthritis is due to massive gene-gene interactions. L. Padyukov. 1397F Construction and inference of large-scale biological network using Gaussian graphical model. W. Chen. 1398W Data-Driven Genetic Encoding: A robust approach for detecting diverse action in main effect models and genetic interactions. M. A. Hall. 1399T Sparse Functional Structural Equations for Causal Genotype-Phenotype Network Analysis with Next-Generation Sequencing Data. M. Rahman.
1409F Using Bayes model averaging to identify GxE interactions in genome-wide association studies. L. C. Moss. 1410W Integration of text mining and epistasis analysis identifies new genes underlying atopy. P.-E. Sugier. 1411T Pathway analysis of next generation sequencing data based on a linear score test. S. Wang. 1412F A stochastic search algorithm for finding multiSNP effects using nuclear families. C. R. Weinberg. 1413W Detecting 3-way G x AGE x SEX interaction effects for obesity traits: Methodological evaluation of approaches and results from the GIANT consortium. T. W. Winkler. 1414T Multivariate functional regression model for gene-gene interaction analysis of highly correlated gene expressions. K. Xu. 1415F A comparison of methods for inferring causal relationships between genotype and phenotype using multi-omics data. H. F. Ainsworth. 1416W Pathway Analysis of Genome-Wide Glaucoma Data. J. N. Cooke Bailey. 1417T A Highly Adaptive Test for Gene- or PathwayMultivariate Trait Association with Application to Neuroimaging Data. J. Kim. 1418F Covariate-selection approach in Genome Wide Association Studies for multivariate data. Y. A. Tsepilov.
1400F Modelling the IGF-Axis as a gene-network to identify early predictors of elevated blood pressure in children and adolescents. P. G. Parmar.
1419W Identifying ethnic-group and SNP interaction in meta-analysis for sequencing association studies. S. Wu.
1401W Genome-wide search for gene-gene interactions in asthma susceptibility. W. Murk.
1420T New disease susceptibility loci identified by a multiple SNPs interaction search in GWAS. Y. Yasui.
1402T A novel gene-level test of association using common variants. P. Nakka.
1421F‡ A Statistical Approach for Testing Gene by Microbiome Interactions. N. Zhao.
1403F Causal gene-gene and gene-environment interaction network analysis- A new generation of genetic interaction studies. M. Xiong.
1422W Efficient heritability partitioning via controlled down-sampling with the Haseman-Elston approximate regression. X. Zhou.
1404W Multivariate Functional Regression Models for Epistasis Analysis. F. Zhang.
1423T Causal Genomic Network Analysis emerges as a New Generation of Genetic Studies of Complex Diseases. Y. Zhu.
1405T Genetic interaction networks reveal novel Type 2 Diabetes networks in the Marshfield PMRP. R. Li. 1406F Testing for gene-by-environment interaction using a kernel-based score test. F. Chen. 1407W Detecting Interactions By Leveraging Genetic Ancestry. D. S. Park.
1424F Genetic modifiers of immune reactivity to a human pathogenic mycobacterium. J. Manry. 1425W A variable selection method for identifying complex genetic models associated with human traits. E. R. Holzinger.
‡ Indicates Reviewers’ Choice Abstract The author listed is the first/presenting author that submitted the abstract. The letter following each poster number indicates the day that authors will be present at their posters. W=Wednesday; T=Thursday; F=Friday. Taking photographs or recording posters is strictly prohibited if the author has displayed the no photography symbol. You agreed to adhere to this policy when registering.
POSTER SESSIONS
1392W Regional IBD Analysis (RIA): a new method for linkage analysis in extended pedigrees using genomewide SNP data. H. J. Cordell.
1408T Extracting socioeconomic data from electronic health records for gene-environment studies of blood pressure. B. Hollister.
138 POSTER SESSIONS 1426T Bayesian Kernel Based Modeling and Selection of Genetic Pathways and Genes for Cancer. Z. Wang. 1427F Modified Random Forest Algorithm to Identify Gene-Gene Interaction in Case-Parent Trios Studies of Oral Cleft. Q. Li. 1428W Causal Inference for Integrative Analysis of Genetic and micro RNA variation. P. Wang. 1429T Comparison and optimization of different centrality measures algorithms used in human gene network analysis. T. Zhang. 1430F Differential expression of transcript isoforms in schizophrenia. E. Drigalenko. 1431W A HMM-based method to harmonize discordant genotypes obtained from DNA sequencing and genotyping experiments in the same samples. C. LowKam. 1432T Imputing LoF variants in Finnish founder population using population-specific reference panels. A. Sarin. 1433F Chinese population allele frequency estimations based on large-scale non-invasive prenatal testing samples. H. Xu. 1434W‡ Joint whole-genome analysis of associations between host and hepatitis C virus diversity in a patient cohort. V. Pedergnana. 1435T The KOPS Registry: A unique cohort for the study of the genetics of obesity and weight loss. A. G. Comuzzie. 1436F A population-specific reference panel empowers genetic studies of Anabaptist participants through improved imputation and variant filtering. L. Hou. 1437W Measuring the value of GWAS results in a clinical trial setting. P. Patil.
1443W Heritability and genetic correlations among hormone and cytokine levels related to type 2 diabetes. R. L. Hanson. 1444T A simple yet accurate correction for winner’s curse can predict signals discovered only in larger genome scans. S.-A. Bacanu. 1445F Study the effects of multiple mediators using DNA methylation. J. Shen. 1446W Genetic susceptibility to higher insulin secretion is associated with obesity. J. N. Todd.
Evolutionary and Population Genetics 1447W Genetic determinants of multiple sclerosis susceptibility in US minority populations. A. Beecham. 1448T Comparisons of Genetically Inferred and Selfreported Race/Ethnicity in US Adults: Results from the National Epidemiologic Survey on Alcohol and Related Conditions – III. H. Zhang. 1449W A New Approximate Bayesian Computation (ABC) framework based on Local Ancestry to Infer Admixture Events. M. H. Gouveia. 1450T Demographic inferences from 447 complete human genome sequences from 148 populations worldwide. M. Metspalu. 1451W Reconstructing the Genetic History of Indigenous Caribbean Populations. T. Schurr. 1452T Strong selection at MHC in Mexicans since admixture. Q. Zhou. 1453W Genetic origins and admixed ancestry characterization of Japanese people. W. Ko. 1454T The genetic structure of the Saudi Arabian population. H. Al-Saud.
1438T Equivalence tests for the analysis of genotyping data: Assessing equality of SNPs in study cohorts. Z. Talebizadeh.
1455W Recent genetic history of Denmark. G. Athanasiadis.
1439F Integrating genome-wide meta-analyses of binary and continuous phenotypes. R. K. Walters.
1456T Assessing the benefits of priors that encourage sparsity for estimating ancestral admixture from genome-wide data. P. Carbonetto.
1440W Assessing models for genetic prediction of complex traits: visualization and quantitative methods. S. A. Gagliano. 1441T Measuring the rate and heritability of aging in Sardinians using pattern recognition. D. Schlessinger. 1442F The Kaiser Permanente/UCSF Genetic Epidemiology Research Study on Adult Health and Aging: Imputing rare variants in ~100,000 individuals. T. J. Hoffmann.
1457W Whole Genome Sequence Identity by Descent Segment Sharing Across Diverse Populations. N. Chambwe. 1458T Characterizing Brazilian sickle cell anemia patients. P. R. S. Cruz. 1459W Ancient European haplotype enrichment in modern Eurasian populations. D. Harris. 1460T Refining the South Asian origin of the Roma people. B. Melegh.
‡ Indicates Reviewers’ Choice Abstract The author listed is the first/presenting author that submitted the abstract. The letter following each poster number indicates the day that authors will be present at their posters. W=Wednesday; T=Thursday; F=Friday. Taking photographs or recording posters is strictly prohibited if the author has displayed the no photography symbol. You agreed to adhere to this policy when registering.
POSTER SESSIONS 139 1478T mQRF: A random forest model on meQTL detection by using chromatin states, haplotype structure and chromatin interaction information. Y. Liu.
1462T Sex-Biased Admixture in the Americas. S. Musharoff.
1479W The genomic and epigenomic properties of sexual dimorphism in human meiotic recombination. C. Bhérer.
1463W A novel approach to developing an ancestry informative marker panel for individual identification and population admixture characterization based on common population-specific SNPs. D. Sengupta. 1464T The Demographic Patterns Revealed by New World African Diaspora Genome. W. Song. 1465W The genetics of Bene Israel from India reveals both substantial Jewish and Indian ancestry. Y. Waldman. 1466T The Population Structure of Nunavik Inuit People. S. Zhou. 1467W A genetic and socio-economic study of mate choice in Latinos reveals novel assortment patterns. J. Y. Zou.
1480T‡ Insights into meiotic recombination from characterization of non-crossover and crossover events in a mouse humanized at PRDM9. R. Li. 1481W Estimating Rates, Tract Lengths and Contributing Factors to Non-Allelic Gene Conversion. A. Harpak. 1482T Geometry of ancestral links: Pathogenic clues. M. Jeanpierre. 1483W Whole genome sequences are required to fully resolve the linkage disequilibrium structure of human populations. R. J. Pengelly. 1484T Regulation of crossover placement in human meiotic recombination. C. L. Campbell.
1468T Population Structure Analysis of Few Northwest Punjabi Populations based on Microsatellites and Alu Insertion Elements. M. Kaur.
1485W Inferring the parental haplotype source of germline-transmitted de novo duplications from population genotype data. Y. Liu.
1469W A new population structure analysis approach specifically designed for whole genome sequence data. M. Robinson.
1486T Pleiotropic constraint in the Human Transcription Factor Network. K. Chesmore.
1470T PCA-seq: Population Structure Inference with Rare Variants from Sequencing Data. T. Thornton. 1471W Population analysis of INDELS markers in a sample of individuals from Santander, Colombia. N. A. Trujillo. 1472T Personalized genomic medicine challenges due to ancestry: disparities in the African Diaspora. M. D. Kessler. 1473W Percent African admixture is associated with telomere length in a healthy adult population. L. R. Yanek. 1474T Comparative analysis of transcriptome of different neurons in the human brain. L. Yang. 1475W Sequence and Amplicon Diversity Among Chimpanzee Y Chromosomes. M. T. Oetjens. 1476T Trends in DNA methylation with age replicate across diverse human populations. S. Gopalan. 1477W On estimating the shared genetic basis of complex phenotypes between populations. B. C. Brown.
1487W The birth of a human-specific neural gene by incomplete duplication and gene fusion. M. L. Dougherty. 1488T‡ An unsteady molecular clock in primates. P. Moorjani. 1489W Long-term survival of duplicate genes despite absence of subfunctionalized expression. X. Lan. 1490T‡ The effect of life history on the rate of the molecular clock and implications for great apes. G. Amster. 1491W Linked selection dominates the genomic landscape of Great Apes. A. Woerner. 1492T The genetic handicap principle: a severely deleterious mutation can be tolerated if the genomewide mutation load is sufficiently low. K. Popadin. 1493W Prevalence of Ebola viral entry resistance in a diverse population. P. F. Cherukuri. 1494T Chromosome-wide scan to identify rapidly mutating Y-STRs. T. Willems. 1495W The Qatari Genome: A Population-Specific Tool to Facilitate Precision Medicine in the Middle East. KA Fakhro.
‡ Indicates Reviewers’ Choice Abstract The author listed is the first/presenting author that submitted the abstract. The letter following each poster number indicates the day that authors will be present at their posters. W=Wednesday; T=Thursday; F=Friday. Taking photographs or recording posters is strictly prohibited if the author has displayed the no photography symbol. You agreed to adhere to this policy when registering.
POSTER SESSIONS
1461W Admixture and ancestry patterns of three Brazilian quilombo remnants communities. C. T. Mendes-Junior.
140 POSTER SESSIONS 1496T Association of polymorphism ADIPOQ rs2241766 (45 T/G) and ADIPOQ rs1501299 (276 G/T) with obesity in breast cancer patients. A. MendezHernandez. 1497W‡ Exploring variation in mosaicism and the mutation rate over time in the mammalian genome. S. J. Lindsay. 1498T A genome-wide association study revealed an association between HLA locus and positivity of rheumatoid factor in Japanese patients with rheumatoid arthritis. T. Hosozawa.
1513W Global diversity in the TAS2R38 bitter taste receptor: revisiting a classic evolutionary PROPosal. D. Risso. 1514T Clarifying the disputed role of FOXP2 in modern human origins. E. G. Atkinson. 1515W Adaptation via gene flow in Africa: a novel approach using ancestry to identify regions of the genome under natural selection. G. B. J. Busby. 1516T Joint Analysis of Natural Selection and Disease Association. K. A. Hartman.
1499W Contributions of short tandem repeats to the phenotypic variation and heritability of a simulated gene expression trait. E. C. Glassberg.
1517W Reintroduction of a Homocysteine Level-related Allele into East Asians by Neanderthal Introgression. Y. Hu.
1500T Human Mitochondrial Indel Discovery via de novo Assembly and its Applications. M. Su.
1518T OCA2 confers convergent skin lightening of East Asians during recent human evolution. B. Su.
1501W An overview of the HLA-C promoter and 3’ untranslated region variability and haplotype structure. E. C. Castelli.
1519W Human nose shape differentiation is due in part to adaptation to local temperature. A. A. Zaidi.
1502T Characterization of the microsatellite mutation process at every locus in the genome. M. Gymrek. 1503W Gender-based differences on SNP polymorphisms in candidate genes to obesity: study of the general Mexican Mestizo population. E. A. Hernández-Tobías. 1504T Influence of deleterious and disease variants on gene expression in human populations. D. Lu. 1505W The Impact of Promoter Polymorphisms on Infant Outcomes and Cytokine Concentration in Preterm Breast Milk. K. L. Baumgartel. 1506T Profile of pathogenic alleles in healthy Lithuanian population. V. Kucinskas. 1507W The effects of single nucleotide polymorphisms on the function of HSPA1A, a key regulator of the cellular stress response in humans. R. M. Oliverio. 1508T Whole-genome reference panel of Tohoku Medical Megabank Organization (ToMMo) and variant annotations. Y. Yamaguchi-Kabata. 1509W Novel validated Alu elements insertions from Mobile-Element Scanning. J. Feusier. 1510T Detecting signatures of positive selection associated with musical aptitude in the human genome. I. Jarvela. 1511W Understanding high-altitude adaptations in Tibetans using population genetic and genetic association analyses. C. Jeong. 1512T A population genetics perspective on quantitative traits. Y. B. Simons.
1520T Identifying the target of selective sweep. A. Akbari. 1521W A new measure of positive selection reveals genome-wide polygenic adaptation for complex traits in humans’ recent evolutionary past. E. A. Boyle. 1522T‡ Estimating The Selective Effect For Each Gene Using Large Scale Population Data. C. A. Cassa. 1523W The lingering load of archaic admixture in modern human populations. K. Harris. 1524T Pleiotropic effects of immune responses explain variation in the prevalence of fibroproliferative diseases. M. Huang. 1525W Signatures of positive natural selection targeting human microsatellites and estimation of relevant mutational and selective parameters. R. Johnson. 1526T Evolution of the ‘fused’ gene family’s repeat region in primates. V. Romero. 1527W Signals of Selection in Genes Associated with Autoimmune Diseases. R. Rothwell. 1528T Natural Selection on HFE in Asian Populations Contributes to Enhanced Non-heme Iron Absorption. K. Ye. 1529W Prevalence of an archaic high altitude adaptive EPAS1 haplotype in the Himalayas. Q. Ayub. 1530T Genetic Basis of Polygenic Adaptation in Indigenous Siberian Populations Inferred using Exome Sequencing Data. P. Hsieh.
‡ Indicates Reviewers’ Choice Abstract The author listed is the first/presenting author that submitted the abstract. The letter following each poster number indicates the day that authors will be present at their posters. W=Wednesday; T=Thursday; F=Friday. Taking photographs or recording posters is strictly prohibited if the author has displayed the no photography symbol. You agreed to adhere to this policy when registering.
POSTER SESSIONS 141 1531W Population structure analysis in a Southwest American Indian population: potential for understanding natural selection in disease susceptibility. P. Kumar.
1548T A comprehensive, diachronic and comparative picture of the mitogenome variation along the Americas. A. Achilli. 1549W The relative effective population size of chromosome X and the autosomes along distinct branches of the human population tree. L. Arbiza.
1533W Analyzing Nonsynonymous SNPs in their Protein Structural Context Reveals Novel Signatures of Population Differentiation in Humans. R. M. Sivley.
1550T Accurate non-parametric estimation of recent effective population size from segments of identity by descent. S. R. Browning.
1534T Novel probabilistically interpretable methods for identifying and localizing genomic targets of selective sweeps. L. A. Sugden.
1551W Past demography revealed from rare variants with population specific FST values. J. Goudet.
1535W‡ Adaptation in global human populations has been hard, soft and polygenic. Z. A. Szpiech. 1536T A 3.4-kb copy number deletion near EPAS1 is significantly enriched in high-altitude Tibetans but absent from the Denisovan sequence. S. Xu. 1537W Purifying selection governs the evolution of the major chaperone sub-network in humans. K. Hess. 1538T Strong evolutionary constraint on human genes escaping X-inactivation is modulated by their expression breadth and level in both sexes. A. Slavney.
1552T Historical mating patterns in the U.S. revealed through admixture and IBD patterns from genomewide data from over 800,000 individuals. J. M. Granka. 1553W Discovery of a previously unknown ancestral origin of the modern Taiwanese population that is distinct from the north-south gradient seen in other Han Chinese populations using the Taiwan Biobank. C. W. Lin. 1554T Estimation of growth rates for populations and haplogroups using full Y chromosome sequences. F. L. Mendez.
1539W‡ Evolving ancestry: The shift in individual ancestry composition over time. D. R. Velez Edwards.
1555W‡ Bayesian Nonparametric Inference of Population Size Changes from Sequential Genealogies. J. Palacios.
1540T Estimation of inbreeding and substructure levels in African-derived Brazilian quilombo populations. R. B. Lemes.
1556T Modeling SNP array ascertainment with Approximate Bayesian Computation to improve demographic inference. C. Quinto.
1541W The Recent History of Human Population Size. A. Rogers.
1557W Selective constraint and sex-biased demography of human populations from X chromosome-autosome comparisons. M. H. Quiver.
1542T Y-chromosome diversity suggests southern origin and Paleolithic backwave migration of AustroAsiatic speakers from eastern Asia to the Indian subcontinent. XM. Zhang.
1558T Genetic, Geographic and Cultural Reconstruction of an Ancient Endogamous Community. D. K. Sanghera.
1543W‡ Historical migrations and mating patterns affect the genetic landscape of the United States population today. R. Curtis.
1559W Unique autosomal STR heterogeneity among three traditional populations from historical Tibet. T. Tsering.
1544T Mitochondrial DNA analysis suggests a Chibchan migration into Colombia. M. C. Noguera.
1560T Geographic patterns of identity-by-descent recapitulate fine-scale migration history of the African Americans. Y. Wang.
1545W Ancient mitochondrial genetic diversity across time and space in the Iñupiat populations of North Alaska. J. Tackney.
1561W Reconstructing genetic history of Siberian and Northeastern European populations. E. Wong.
1546T Mitochondrial DNA Haplogroup C Phylogeny for Altaian Populations and its Implications for the Peopling of Siberia and the Americas. A. Askapuli. 1547W Structured mating and its genetic consequences in the multi-ethnic Kaiser Permanente (KP) Genetic Epidemiology Research on Adult Health and Aging (GERA) cohort. Y. Banda.
1562T Ages of mitochondrial DNA lineages coincides with the agriculture spread in Finland. S. Översti. 1563W Fine scale population structure of Spain and the genetic impact of historical invasions and migrations. C. Bycroft.
‡ Indicates Reviewers’ Choice Abstract The author listed is the first/presenting author that submitted the abstract. The letter following each poster number indicates the day that authors will be present at their posters. W=Wednesday; T=Thursday; F=Friday. Taking photographs or recording posters is strictly prohibited if the author has displayed the no photography symbol. You agreed to adhere to this policy when registering.
POSTER SESSIONS
1532T A Genomic Map of Positive Selection in Sardinia. J. H. Marcus.
142 POSTER SESSIONS 1564T Polygenic Adaptation Regression Analysis. Y. Field.
1581W Rare variants: The key to decipher cryptic relatedness in diverse population structures. A. C. Shetty.
1565W Patterns of IBD (identity-by-descent) sharing among 780,000 present-day Americans reveal geography and recent settlement history in the United States. E. Han.
1582T Path analysis and structural equation modeling for traditional cardiovascular risk traits in Punjabi adolescents. S. K. Brar.
1566T Identity by descent analysis reveals fine-scale population structure in Crete. A. M. Plantinga.
1583W Privacy leaks from genomic data-sharing beacons. S. Shringarpure.
1567W The fine-scale genetic structure of the Japanese population: estimation of genetic materials derived from Asians and the basis of genetic differentiation. F. Takeuchi.
1584T Using DNA methylation data to test heritabilitybased predictions of evolutionary models of aging. C. Robins.
1568T Recent polygenic adaptation in Europe. N. Telis. 1569W‡ Insights on modern human migration and rare variation spread using ten of millions of genealogical profiles. M. Wahl. 1570T‡ ‘Human Knockout Project’ in a Pakistani population with high levels of consanguinity. P. Natarajan. 1571W Homozygous loss-of-function variants in European cosmopolitan and isolate populations. J. Wilson. 1572T Harnessing the power of exome sequencing and isolated populations to identify risk factors for inflammatory bowel disease. M. A. Rivas. 1573W Rare coding and regulatory noncoding variants in the Saguenay-Lac-Saint-Jean founder population. A. Morin. 1574T Whole genome view of the Finnish bottleneck effects using 2926 whole genome sequences from Finland and UK. H. Chheda. 1575W A genetic population isolate in The Netherlands showing extensive haplotype sharing and long regions of homozygosity. L. Olde Loohuis. 1576T Recessive disease gene mapping in India: extraordinary opportunities for understanding health and disease. N. J. Nakatsuka. 1577W Using Y chromosome diversity to investigate the origin and the formation of the Taiwanese. J. Loo. 1578T Characterization of 20,000 clinically relevant variants in 50,000 non-European individuals. E. E. Kenny. 1579W‡ Understanding germline mutation from multisibling families. R. Rahbari. 1580T Most Rare and Common Variants in the MAP3K1 Gene Have Neutral Phenotypic Effects. M. Groden.
1585W The NHGRI Sample Repository: A Collection of DNA and Cell Lines for Human Genetic Research. A. M. Resch. 1586T The effect of SNP array ascertainment bias on the distribution of runs of homozygosity lengths. A. Gladstein. 1587W Anthropometric and cardiovascular trait variation among sub-Saharan African populations: the impact of subsistence practice and genetic ancestry. M. E. B. Hansen.
Bioinformatics and Genomic Technology 1588W Splice site mutation in the key cytoskeletal gene TLN1 causes systemic capillary leak syndrome in a first reported familial case. D. Oz-Levi. 1589T Splice-EMASE: Quantifying allele-specific alternative splicing in diploid genomes. N. Raghupathy. 1590F A system for gene ranking through variant annotation in Autism Spectrum Disorders. E. Larsen. 1591W Typing of PRDM9 genotypic class from next generation sequencing data in early onset childhood cancer. A. Ang Houle. 1592T Genomic Crowdsourcing: Allele Frequency Community Provides Expansive, Ethnically Diverse, Freely Available Community Resource for Allele Frequency Annotation. D. Bassett. 1593F Robust Classification of Protein Variation Using Structural Modeling and Large-Scale Data Integration. E. H. Baugh. 1594W Big Data Warehouse for Large Scale Genomics. B. Bernard. 1595T‡ Increased Statistical Power Using Informed Conditioning in Case-Control Studies. M. Bilow.
‡ Indicates Reviewers’ Choice Abstract The author listed is the first/presenting author that submitted the abstract. The letter following each poster number indicates the day that authors will be present at their posters. W=Wednesday; T=Thursday; F=Friday. Taking photographs or recording posters is strictly prohibited if the author has displayed the no photography symbol. You agreed to adhere to this policy when registering.
POSTER SESSIONS 143 1596F A resampling-based method for comparison of location parameters in multivariate datasets. M. Borges.
1598T‡ An automatic next-generation sequencing analysis pipeline for family-based disease studies. R.-H. Chung. 1599F An automated, differences-based model for retrospectively applying dynamic annotation data to static whole exome sequencing result sets. D. Corsmeier. 1600W Gene and pathogenic variant discovery for Mendelian and Complex Familial Traits. H. Dai. 1601T The ClinGen Interface for Curating the Clinical Validity of Gene-Disease Associations: Specifications and Implementation. S. Dwight. 1602F Efficient testing of multiple phenotypes in genome-wide association studies. L. Gai. 1603W In silico Construction of Personalized DNA Methylation Biomarkers. E. Gatev. 1604T‡ Leveraging tumor lineage trees to predict and genotype somatic structural variations using pairedend sequencing. I. Hajirasouliha. 1605F Bior_annotate and VCF-Miner: An annotation and visualization framework designed for a constantly evolving genomic landscape. S. Hart. 1606W EpiCenter2: a powerful tool for RNA-seq and ChIP-seq data analysis. W. Huang. 1607T‡ FOAM: avoiding misleading variants in genomic regions Frequently Observed As Mutated. C. Humphries. 1608F‡ FIRE: functional inference of genetic variants that regulate gene expression. N. M. Ioannidis. 1609W Turning Publicly Available Gene Expression Data into Discoveries Using Gene Set Context Analysis. Z. Ji. 1610T An automatic end-to-end solution for diseasecausing variant detection in rare and hereditary diseases with a high case solve rate and a much reduced false positive rate. A. Joecker. 1611F HITseqClust: Analysis of HIV-1 Integration Targeting-sequencing (HIT-seq) data to identify gene clusters targeted by specific transcription factors. R. C. Johnson. 1612W Model selection via iterative hard thresholding for genome-wide association studies. K. L. Keys.
1614F SoloDel: A probabilistic model for detecting low-frequent somatic deletions from unmatched sequencing data. S. Kim. 1615W FMAP: Functional Mapping Analysis Pipeline for Comparative Metagenomics and Metatranscriptomics. J. Kim. 1616T‡ Improving haplotype phasing accuracy using many short IBD segments. A. Kleinman. 1617F coalescentSTR: a statistical approach for short tandem repeat number estimation based on coalescent theory from high-throughput sequencing data. K. Kojima. 1618W Bayesian learning of risk variants and functional enrichments in pleiotropic traits. Y. Li. 1619T Improving Specificity in Ion Proton Data. D. S. Lieber. 1620F Low-cost ancestry inference using targeted sequencing. B. Liu. 1621W Improved Algorithm for Amplicon Sequencing Assay Designs. G. Liu. 1622T Normalization for correcting systematic variation in microarray genotyping. J. Liu. 1623F APIGenome: A public library for big data genomic analysis tools. A. Liu. 1624W WGSA: an annotation pipeline for human genome sequencing studies. X. Liu. 1625T Slippage-Associated Repeat Identification and Analysis (SARIA) in silico at Sites of Chromosomal Structural Change. S. Ma. 1626F A pairwise genomic distance measure to evaluate the effect of donor/recipient genomic proximity on unrelated stem cell transplantation. A. Madbouly. 1627W SPRITE: A Fast Parallel SNP Detection Pipeline. K. Madduri. 1628T Alignment, phasing and structural variant detection with linked reads. P. Marks. 1629F Geisinger GenomeFIRST™ and Targeted Family History Collection. S. A. Martin. 1630W Massively Parallel Demultiplexing of Raw Illumina Sequencing Data. B. R. Myers. 1631T CANNOTATE: A Genomic Sequencing and Annotation Database. J. D. Newcomer.
‡ Indicates Reviewers’ Choice Abstract The author listed is the first/presenting author that submitted the abstract. The letter following each poster number indicates the day that authors will be present at their posters. W=Wednesday; T=Thursday; F=Friday. Taking photographs or recording posters is strictly prohibited if the author has displayed the no photography symbol. You agreed to adhere to this policy when registering.
POSTER SESSIONS
1597W Multilevel Regression Approach for CrossPlatform Transformation of Gene Expression Data. Y. Cheung.
1613T Automated Identification, Prioritization and Visualization of Large-Scale Genomic Data. M. J. Kiel.
144 POSTER SESSIONS 1632F Integrated Genome Mapping in Nanochannel Arrays and Sequencing for Better Human Genome Assembly and Structural Variation Detection. A. W. C. Pang. 1633W An accurate and sensitive approach to detecting source of variance in DNA methylation Beta values. Y. Park. 1634T Discovering combinatorial patterns of histone modification regulating gene expression. S. Park. 1635F GenomeWhiff and DigitalKindred: Ultra-Fast Similarity Search, Clustering and Classification of Very Large Number of NGS Samples Using Bitwise Operations. J. Patel. 1636W Software for the visualisation of genetic variation and its implication on protein sequences and 3D structures. A. Prlic. 1637T Improved Transcription Factor Binding Site Prediction using DNase-seq Footprinting in a Supervised Discriminatory Machine Learning Framework. B. C. Quach. 1638F Authorial: An author list management system for scientific papers. N. W. Rayner. 1639W Best practices for deploying a high throughput pipeline for variant calling in an extremely large cohort of whole genome sequenced samples. N. Rustagi. 1640T VarAFT: A variant annotation and filtration system for exome sequencing data. D. Salgado. 1641F cnvScan: a CNV screening and annotation tool to improve the clinical utility of computational CNV prediction. P. S. Samarakoon. 1642W Benchmarking Strand NGS RNA aligner against TopHat2 and other common splice aligners. A. Sathyanarayanan. 1643T Accurate somatic mutation detection at low allelic frequency and low copy number applied to liquid biopsy samples. M. Schwartz. 1644F COSMOS: accurate detection of complex somatic structural variations through asymmetric comparison between tumor and normal samples. J. Sese. 1645W A tool for developing and validating supervised learning risk prediction models. S. Shankaracharya. 1646T QuicK-mer: A rapid paralog sensitive CNV detection pipeline. F. Shen. 1647F GENALICE MAP: efficient and accurate population genomics. B. Tolhuis.
1649T Computational Framework for Heterogeneity Assessment and Characterization in Single Cell Sequencing Data. K. Volyanskyy. 1650F Deconvolution for Mixed Cancer Transcriptomes from Heterogeneous Tumor Samples with Immunal Infiltration. Z. Wang. 1651W Correcting nucleotide-specific biases in highthroughput sequencing data. J. R. Wang. 1652T HGSC Variant warehouse, a scalable, variantedcentered database running in hadoop. S. J. White. 1653F NGS-SWIFT: A Cloud-Based Variant Analysis Solution Using Control-Accessed Sequencing Data. C. Xiao. 1654W A hidden Markov random field based Bayesian method for the detection of long-range chromosomal interactions in Hi-C Data. Z. Xu. 1655T Pathway analysis of genomic loci using the seq2pathway bioconductor package. X. H. Yang. 1656F Development of an effective clinical interpretation solution for genomic data. P. Yu. 1657W Introducing Awsomics: a cloud-based bioinformatics toolbox. Z. Zhang. 1658T Sequence Analyzer (SeqA): a computationally efficient large-scale sequence data quality control pipeline and analysis framework. D. Zhang. 1659F Speciman: A new low-frequency variant caller with significantly increased specificity. J. Zhang. 1660W Zodiac: A Comprehensive Information System of Genetic Interactions in Cancer Based on Statistical Models of TCGA Data. Y. Ji. 1661T Genomic analysis of multiple data types in cancer patient cohorts in GenePool platform allows fast and efficient multi-dimensional view of biological mechanisms. A. Vladimirova. 1662F Decoding the code of chromosomal translocation: a computational approach. R. M. Rawal. 1663W Design and Implementation of an CloudBased Graphical Interface for Variant Exploration and Classification. X. Xu. 1664T Run Smarter, Not Harder: Scalable Joint Variant Discovery with GATK. S. Chandran. 1665F Risk Allele Distribution Visualizer (RADViz-QT): A novel computational tool to estimate continentspecific differences in Cumulative Genetic Risk (CGR) for quantitative traits and diseases. A. Choudhury.
1648W Applying compressed sensing to genome-wide analysis of qualitative traits. S. Vattikuti. ‡ Indicates Reviewers’ Choice Abstract The author listed is the first/presenting author that submitted the abstract. The letter following each poster number indicates the day that authors will be present at their posters. W=Wednesday; T=Thursday; F=Friday. Taking photographs or recording posters is strictly prohibited if the author has displayed the no photography symbol. You agreed to adhere to this policy when registering.
POSTER SESSIONS 145 1666W Characterizing transcriptional heterogeneity through pathway and gene set overdispersion analysis. J. Fan.
1668F A novel approach to genome-wide association analysis: SNP Pairs In Neighboring Distance and Linkage Equilibrium (SPINDLE). A. P. Khawaja. 1669W Genvisis: Visualization and batch correction of copy number variation at the population level leads to higher accuracy and the ability to analyze data on sex chromosomes. J. Lane.
1684W A virtuous cycle of large cohort research, personal genome analysis, and clinical deployment. N. Veeraraghavan. 1685T Multiple Testing Correction in Linear Mixed Models. J. W. Joo. 1686F‡ Fast genome-wide assessment of the likelihood for variants being causal using only summary statistics. D. Lee.
1670T KeBABS: an R/Bioconductor package for kernel-based analysis of biological sequences. J. Palme.
1687W ZGP: a novel method for detecting candidate genes and pathways by integrating genome-wide association studies with pathway analysis. H. Zhao.
1671F HPMV: Human Protein Mutation Viewer. W. A. Sherman.
1688T‡ OpenCB: a scalable and high-performance platform for big data analysis and visualization in genomics. J. Coll.
1672W The ENCODE Analysis Pipelines: Tools for Repeatable, Standards-Based Analysis and Quality Control of Chromatin, Expression, and Methylation Experiments. J. S. Strattan. 1673T PhASTESt, a user friendly tool for power calculations in pharmacogenomic studies with “time to event” outcomes. H. Syed. 1674F‡ Homozygous and hemizygous deletion CNV detection from exome sequence in a Mendelian disease cohort. T. Gambin. 1675W Detection, validation and visualization of copy number variations in targeted panels without matched normal samples using next generation sequencing data. R. Gupta. 1676T CNValloc: a Bayesian approach for identifying copy unit alleles of CNVs from population-scale highthroughput sequencing data. T. Mimori. 1677F BAM Consensus: Copy Number Data Analysis for Targeted Panel NGS. A. O’Hara. 1678W‡ A Multiple Feature Approach for Robust and Accurate Structural Variation Discovery for Whole Genome Sequencing Data of Varied Designs. L. C. Xia. 1679T molQTL, an integrated NCBI resource for molecular QTL results. N. Sharopova. 1680F Random Walk on Ontology for Rare Disorder Diagnosis. C. Wu. 1681W Virtual progeny analytics provides a multidimensional view of phenotype expectations for couples prior to conception. A. J. Silver. 1682T Geneious R9: CRISPR design tool. C. Olsen.
1689F‡ Global expression patterns and key regulators in epithelial to mesenchymal transition. P. Parsana. 1690W‡ In silico validation of allelic imbalance by assessments of SNP arrays, whole-exome sequencing and haplotype matching. S. Sivakumar. 1691T Identification of possible pleiotropic genetic variants using ClinVar and hospital discharge data. A. Donahue. 1692F GRIPT: A novel method to identify disease causing genes in a cohort of patients using next generation sequencing data. L. Zhao. 1693W SNP-Chip Sibling Ranker: Using SNPChip Data to Inform Next Gen Sequencing Choices. B. N. Pusey. 1694T miRge: A rational, ultrafast, multiplexed method of processing small RNA-seq data for microRNAs. A. S. Baras. 1695F Nonparametric tests for differential expression in paired tumor-normal microRNA data with imputation-induced dependence. A. A. Suyundikov. 1696W SPARS: Sequencing-based pipeline for annotating novel small non-coding RNAs. P. P. Kuksa. 1697T Contrasting Association Results between Existing PheWAS Phenotype Definition Methods and Five Validated Electronic Phenotypes. J. B. Leader. 1698F Text-mined phenotype annotation and vectorbased similarity improve automated classification of Mendelian phenotypes. J. R. Saklatvala. 1699W A Coalescent-Based Shotgun Sequence Simulator for Evolving Microbial and Tumour Cell Populations. K. Liao.
‡ Indicates Reviewers’ Choice Abstract The author listed is the first/presenting author that submitted the abstract. The letter following each poster number indicates the day that authors will be present at their posters. W=Wednesday; T=Thursday; F=Friday. Taking photographs or recording posters is strictly prohibited if the author has displayed the no photography symbol. You agreed to adhere to this policy when registering.
POSTER SESSIONS
1667T BDQC: a general-purpose analytics validation tool for Big Data Discovery Science. G. Glusman.
1683F Apollo: A Production Tested, Vertically Integrated, Operations Enhanced, Science Aware Framework for Launching Large Cohorts of Genomics Pipelines. R. Z. Castellanos.
146 POSTER SESSIONS 1700T Accurately inferring imbalanced allele expression using logistic regression models. K. C. Olney.
1718T Ferret: a user-friendly Java tool to extract data from the 1000 Genomes Project. S. Limou.
1701F Online human population genetics simulator: a tool for genetics/genomics education and research. J. R. Shaffer.
1719F GAMETES 2.0: Expanding the complex model and data simulation software to generate heterogeneous datasets, custom models, and quantitative traits. J. H. Moore.
1702W Benchmarking of splice isoform quantification methods for RNA sequence data. F. Aguet.
1720W Gene: a gene-centered information resource at NCBI. T. Murphy.
1703T‡ Accurate quantification of allele-specific expression from single cell RNA-Seq data. K. Choi.
1721T BioBin: A comprehensive tool for the biologically-inspired binning and association analysis of low frequency variants in sequence data. A. Okula.
1704F derfinder: Software for annotation-agnostic RNA-seq differential expression analysis. L. ColladoTorres.
1722F Geneious R9: a bioinformatics platform for biologists. K. Qaadri.
1705W SplineAdjust: Correcting length bias in differential expression analysis of RNA-Seq data. L. Wang.
1723W‡ Novel Approach for Correction of Cell-Type Heterogeneity Improves Power of Epigenome-Wide Association Studies. E. Rahmani.
1706T Reveel2: an efficient and accurate method for large-scale population genotyping from low-coverage sequencing data. L. Huang.
1724T Network-assisted Method of Genome-wide DNA Methylation Association Studies in Cancers. P. Ruan.
1707F SplicER: A novel analytic scheme for the analysis of Splicing Efficiency in RNA-seq data. L. Simon. 1708W‡ Pleiotropic Variability Score: Quantifying Phenomic Associations of Genetic Variants. M. A. Badgeley. 1709T A generalized non-parametric genotype caller using an EM-like Algorithm. T. Benaglia. 1710F AIPS: Ancestry Inference of Subpopulations using Scores from Principal Component Analysis in Genome-Wide Association Studies. J. Byun. 1711W Processing microarray data using alternative annotations through the Bioconductor oligo package. B. Carvalho.
1725F Comparison of preprocessing methods for the Luminex xMap® technology. A. Schillert. 1726W‡ LAMPLINK: An additional function for PLINK to detect statistically significant genetic interactions. A. Terada. 1727T Calcordance: A Genotyping Concordance Tool. B. D. Tibbils. 1728F A web portal for rapid imputation of summary statistics in association studies. J. N. Torres. 1729W A new ‘front’ in rule-based data mining for complex, heterogeneous, and noisy association analyses. R. J. Urbanowicz. 1730T A new change-point model based method for copy number variation detection. F. Xiao.
1712T Gaussian processes for medical time-series extrapolation and event prediction. L. Cheng.
1731F‡ Varpipe: Whole Genome Variant Analysis in Minutes. A. Yao.
1713F‡ Realistic simulation of mutations for improving mutation assessment. A. D. Ewing.
1732W FASTQuick: Comprehensive real-time quality assessment of ultra-high-throughput sequence data. F. Zhang.
1714W‡ Evolutionarily Derived Networks to Inform Disease Pathways. B. E. Graham. 1715T Rapid Generation of Illumina Infinium Genotyping Release Data. S. M. L. Griffith. 1716F Integration of Bina RAVE for genomic data analysis at the Center for Inherited Disease Research. K. N. Hetrick. 1717W Efficient approach to correct read alignment for pseudogene abundance estimates. C. J.-T. Ju.
1733T‡ Identifying the underlying causal variants in associated regions in multiethnic meta-analysis. A. B. Zhu. 1734F Challenges in variant annotation for clinical genomic testing. J. Yen. 1735W Improving the annotation of splice-disrupting loss-of-function variants. D. P. Birnbaum.
‡ Indicates Reviewers’ Choice Abstract The author listed is the first/presenting author that submitted the abstract. The letter following each poster number indicates the day that authors will be present at their posters. W=Wednesday; T=Thursday; F=Friday. Taking photographs or recording posters is strictly prohibited if the author has displayed the no photography symbol. You agreed to adhere to this policy when registering.
POSTER SESSIONS 147 1736T Sequencing depth of coverage as a quality control metric in whole exome sequencing fails to identify multiple regions in which variant calling and genotyping cannot be accurately performed. A. Naik.
1738W Heterogeneity of Exome Methodology Causes Variability in CNV Predictions. C. S. Hong. 1739T Comparison of a Literature Search Algorithm and Curated Publication Database with the Literature Content of Other Locus Specific Databases. L. Esterling.
1754T‡ Smart multiple testing correction in eQTL studies. D. B. Duong. 1755F‡ Kaviar: a comprehensive public catalog of human variant and genotype frequencies. T. Farrah. 1756W Single Sample Imputation from Next Generation Sequencing (NGS) Exome data can improve genotypes in low-coverage regions. H. Sicotte. 1757T Genetic and clinical predictors for asthma risk assessment among children in Taiwan. J. Tseng.
1740F‡ Augmenting public databases with ultra-deep clinical targeted sequencing data. E. A. Evans.
1758F A cloud based in-silico research platform for disease genomics: G-DOC Plus. K. Bhuvaneshwar.
1741W From genes to functional elements - enriching RefSeq annotation of the human genome. C. M. Farrell.
1759W Can functional data assess genetic risk? A polygenic risk score approach. M. Butkiewicz.
1742T Curation of reference sequence (RefSeq) standards to support clinical applications and basic research. K. Pruitt.
1760T Polycomb Repressive Complex 2 epigenomic signature defines age-associated hypermethylation and gene expression changes. M. Dozmorov.
1743F n1n2TrackAnnotator: Software for detection and annotation of tracks comprising user-defined two different nucleotides in genome sequence . H. N. Singh.
1761F Population scale human genome analysis on the cloud. J. Fitch.
1744W A Bayesian test to identify variance quantitative trait loci. B. Dumitrascu.
1762W Functional long-range regulatory interactions harbor co-occurring ancestry specific variants. D. L. Gibbs.
1745T An improved infrastructure and user interface for the NHGRI-EBI Genome-Wide Association Study (GWAS) Catalog. J. A. L. MacArthur.
1763T Network-based meta-analyses of multiple gene expression profiles with BMD variations in females. H. He.
1746F‡ Meta-analysis of Complex Diseases at Gene Level by Functional Regression. Y. Wang.
1764F AnthOligo: Automated design of hybridization oligonucleotides for region-specific extraction of large contigious DNA fragments. P. Jayaraman.
1747W Churchill 2.0: Making the Ultra-Fast Analysis Pipeline for Clinical and Population-Scale Genomics Faster, More Efficient, and More Comprehensive. B. Kelly. 1748T NCBI resources for taking advantage of the GRCh38 reference genome assembly. V. A. Schneider. 1749F High-accuracy imputation for HLA class I and II genes based on high-resolution SNP data of Japanese references and its application on Steven-Johnson Syndrome and Narcolepsy with cataplexy. S. Khor. 1750W PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseases. O. J. Buske. 1751T NCBI’s database of Genotypes and Phenotypes: dbGaP. M. Feolo. 1752F Development of a bioinformatics application for the assessment of genetic risk of complex diseases. K. L. Valdés.
1765W‡ miR-96 targets a network of transcription factors and cell cycle regulators associated with prostate cancer progression. M. D. Long. 1766T‡ Examining lost reads to survey the microbiome and immune components of the human body across 43 human sites from 175 individuals. S. Mangul. 1767F The feasibility test of fetal fraction estimation in targeted sequencing using fragment size in the case of Duchenne Muscular Dystrophy (DMD). J. Park. 1768W Predicted effect of single nucleotide polymorphisms affecting skin/hair coloration and/or 4-6 KHz hearing loss in young adults on secondary protein structure of melanocortin-1 receptor (MC1R). C. B. Pudrith. 1769T Carrier Risk Estimation using Single Nucleotide Polymorphism-based Measures of Relatedness. R. Shraga.
‡ Indicates Reviewers’ Choice Abstract The author listed is the first/presenting author that submitted the abstract. The letter following each poster number indicates the day that authors will be present at their posters. W=Wednesday; T=Thursday; F=Friday. Taking photographs or recording posters is strictly prohibited if the author has displayed the no photography symbol. You agreed to adhere to this policy when registering.
POSTER SESSIONS
1737F Genotype Imputation Informed by both Kinship and Linkage Disequilibrium. R. Wasiolek.
1753W An empirical recombination for demographic inference and IDB detection. T. Y. Wang.
148 POSTER SESSIONS 1770F Childhood Asthma Clusters Reveal Different Clinical Characteristics and Gene Signatures. M. W. Su. 1771W Reducing Off-Target Rate in Targeted Sequencing. L. Teng. 1772T Pathway Based Targeted Sequencing and MetaGenomic Analysis of Preterm Birth. A. Uzun. 1773F Determine the contribution of genomic structure variation to the etiology of Tourette syndrome using whole-exome sequencing. Y. Zhang. 1774W Accelerating pancreatic cancer drug screening by leveraging genomics to select better in vitro models. R. Kusko. 1775T Using genome-wide genotyping and genomewide gene expression profiles to perform integrative analyses of neutrophilic asthma. C. H. Tsai.
1788F A computational protein phenotype prediction approach to analyze the deleterious mutations of human med12 gene. R. Elango. 1789W Diagnostic sequencing in mosaicism and heteroplasmy: allele detection and base calling by graph analysis. S. Bang. 1790T Morphling: a likelihood based Mobile Element Insertion (MEI) caller for whole genome sequencing data. S. Chen. 1791F Benchmarking well know bioinformatics aligners and variant callers using the Pilot Genome (NA12878) and Ashkenazim Father-Mother-Son trio. A. B. Diallo. 1792W A realistic simulation for benchmarking germline and somatic mutation detection with long read sequencing. B. Lau.
1776F Detecting the influence of genetic variants on personality. K. Wolffhechel.
1793T Fast and accurate variant calling of thousands of human genomes for clinical applications. G. A. Lunter.
1777W Diagnostic Role of Exome Sequencing in Immune Deficiency Disorders. S. E. Brenner.
1794F Whole read overlap assembly accurately detects structural variants now in GRCh38. A. Mangubat.
1778T OMIM at 50: the nexus for knowledge on human genes and genetic disorders. A. Hamosh.
1795W A comprehensive genomics resource for assessingvariant calling accuracy. M. Mohiyuddin.
1779F Investigation of rare variants in complex disorders by using pooled DNA sequencing. J. Wang.
1796T Utilizing the Genome Analysis Toolkit’s (GATK) CalculateGenotypePosteriors to refine sequencing genotype calls based on external population and trio information. E. Pugh.
1780W Distribution of unique sequences in the human genome. K. Misawa. 1781T Modular transcriptional repertoire, network community structure, and microRNA target analyses in thymic tissue of Down syndrome infants. C. A. MoreiraFilho.
1797F Comparison of alignment strategies for allelic expression imbalance. C. K. Raulerson. 1798W Decision Tree Machine Learning Approach to Identify Clinically Actionable Copy Number Events. S. Shams.
1782F Longitudinal prediction of the infant gut microbiome with dynamic Bayesian networks. M. J. McGeachie.
1799T Modeling Pseudomonas DNA Integrations into Stomach Adenocarcinoma. K. B. Sieber.
1783W Structural and functional investigation of pathogenic mutations of IL10RA gene by computational methods. B. Babajan.
1800F SNooPer: a machine learning-based method for somatic variant identification from next-generation sequencing. JF. Spinella.
1784T Forecasting a renal prognosis of IgA nephropathy using machine learning. H. Lee.
1801W‡ Toward assembly-based variation discovery from highly divergent regions. S. Tian.
1785F Identification of genetic interactions involved in Dyslexia pathogenesis. N. Karbalai.
1802T SuperVario: a Common Repository for Variant Data. A. S. Wenocur.
1786W Systematic and integrative analysis of a geneset involved in prostate cancer: a bioinformatics study. J. Pani.
1803F Analysing the technical sensitivity of indel detection for molecular diagnostics. N. Whiffin.
1787T Implications for cell type-specific transcriptomics in the developing human brain from next-generation sequencing of subcellular RNA fractions. A. J. Price.
1804W ScanIndel: a hybrid framework for indel detection via gapped alignment, split reads and de novo assembly. R. Yang.
‡ Indicates Reviewers’ Choice Abstract The author listed is the first/presenting author that submitted the abstract. The letter following each poster number indicates the day that authors will be present at their posters. W=Wednesday; T=Thursday; F=Friday. Taking photographs or recording posters is strictly prohibited if the author has displayed the no photography symbol. You agreed to adhere to this policy when registering.
POSTER SESSIONS 149 1805T ConVarCal: A Reliable and Robust Platform for Next-Generation Sequencing Variants Identification. Y. Zheng.
1807W Identification of novel tumor suppressor candidates in familial cholangiocarcinoma using sequencing-based Megabase-scale haplotypes from germline and cancer genomes. S. Greer. 1808T‡ Towards reliably detecting structural variants with nanopore sequencing. A. L. Norris. 1809F Finding the fastest route to the right answer: optimizing detection of mutations, copy number changes, and loss of heterozygosity in a single sequencing assay. B. Peter. 1810W Next-Generation Sequencing Carrier Screen for Alpha Thalassemia Identifies Both Common and Rare Variants. J. R. Maguire. 1811T Confirming Variants Discovered by Next Generation Sequencing (NGS) with Sanger Sequencing Using Innovative Bioinformatics Tools. E. H. Schreiber. 1812F‡ Detecting Single Exon Deletions in Clinical Whole Exome Sequencing. T. Chiang. 1813W BioNano nanochannel-based genome mapping can detect large pathogenic CNVs on chromosome 22q11.2 and describe genome architecture in humans. R. R. Haraksingh. 1814T panelcn.MOPS reaches clinical standards as a CNV detection tool for targeted panel sequencing data. V. Haunschmid. 1815F iPsychCNV: A robust method for copy number variation detection on dried blood spots. J. H. Thygesen. 1816W The NIH Undiagnosed Diseases Program approach to prioritizing variants from genome-scale sequencing. D. R. Adams. 1817T A combination of targeted enrichment methodologies for whole-exome sequencing reveals novel pathogenic mutations. F. Miya.
1821F‡ Utilization of PacBio long-read sequencing in comprehensive genomics. H. Doddapaneni. 1822W Integrative calling of short indels encompassing a wide spectrum of tandem repeats via fuzzy left-right alignment. H. M. Kang. 1823T Mitigating Batch Effects in Whole Genome Sequencing. J. Tom. 1824F Challenges and approaches to genotyping large biobank projects. T. Webster. 1825W Description Extractor: Automated HGVSrecommended sequence variant description. P. E. M. Taschner. 1826T‡ Accuracy of Variant detection in Nextgeneration sequencing: a comparison between exome and RNA seq. L. Trotta. 1827F Genotype Imputation Using Sparse Partial Least Squares Analysis. H. Koh. 1828W‡ De novo and somatic indel variant analysis of whole genome and exome capture sequencing experiments with Scalpel. H. Fang. 1829T Platinum Genomes: A comprehensive package for assessing variant calling performance on GRCh37 and GRCh38. E. Fritzilas. 1830F Enforcing high quality variant calling in large scale whole genome sequencing. Z. Huang. 1831W A Bayesian framework for de novo mutations calling in nuclear families. Q. Wei. 1832T Resizing N-Base Gaps in the Human Reference Genome. Z. Dzakula. 1833F Characterization of the microDNome and its impact on the differential sensitivity to cancer treatments. P. Mehanna. 1834W Updates in the human reference genome assembly (GRCh38). T. Rezaie.
1818F Trans-ethnic analysis of complex traits: analysis approaches by the Population Architecture Using Genetics and Epidemiology (PAGE) II Study. S. Rosse.
1835T A Single-Tube NGS Library Prep Workflow Integrating Enzymatic Fragmentation Results in High Yields and Low Sequencing Bias. S. Liu-Cordero.
1819W Use of whole genome sequence analysis following uninformative exome sequencing to uncover potential causal variants in siblings with interstitial lung disease. B. A. Ozenberger.
1836F TruSeq Rapid Exome: A new improved exome enrichment strategy using a mutant transposase. D. Schlingman. 1837W Missing coverage of ACMG genes in clinical exome and genome sequencing. R. L. Goldfeder.
‡ Indicates Reviewers’ Choice Abstract The author listed is the first/presenting author that submitted the abstract. The letter following each poster number indicates the day that authors will be present at their posters. W=Wednesday; T=Thursday; F=Friday. Taking photographs or recording posters is strictly prohibited if the author has displayed the no photography symbol. You agreed to adhere to this policy when registering.
POSTER SESSIONS
1806F A comprehensive SomaticSeq workflow to prioritize biologically relevant somatic mutations in cancer. L. T. Fang.
1820T High speed, low cost processing of WGS data in Alzheimer’s disease patients along with integrative analyses enables novel insights into risk mechanisms. N. D. Beckmann.
150 POSTER SESSIONS 1838T De novo assembly of a diploid Asian genome. Y. Guo.
1855W Integrating Big Data to Make Biological Sense of Statistical Models. S. Verma.
1839F Initial characterisation of 125 whole-genome sequenced trios from four ethnic groups in the Gambia. Q. S. Le.
1856T RAPiD - An Agile and Dependable RNA-Seq Framework. Y. Wang.
1840W Comparison of exome and genome sequencing platforms for the complete capture of protein coding regions. S. H. Lelieveld. 1841T The International Genome Sample Resource: Beyond the 1000 Genomes Project. X. Zheng-Bradley. 1842F De Novo Assembly of the First Human Diploid Genome with Single-molecule Sequencing for Asian Genome Project. M. Sohn. 1843W SHIELD: an integrative gene expression database for inner ear research. J. Shen. 1844T aRrayLasso: a network-based approach to microarray interconversion. A. S. Brown. 1845F Sequencing File Mover: A Tool for the Management of Sequencing Data. K. A. Duerr. 1846W A flexible pipeline that extracts full ClinVar data set. X. Feng. 1847T An integrated RNA and DNA approach to unravel genetic regulation in cancer. V. Hedatale. 1848F The PhenX Toolkit: A Genomic Resource for Collaborative and Translational Biomedical Research. W. Huggins. 1849W‡ Interpreting a migraine GWAS using gene expression in healthy human brain. S. M. H. Huisman. 1850T Deploying a next-generation informatics infrastructure for genomic medicine: the Ohio State University and Ohio Supercomputer Center experience. D. D. Kinnamon. 1851F Sequence and structural variability at the whole population scale for the Influenza Virus type A. G. Mazzocco. 1852W Integrating coding variants and regulatory variation to improve the power of identifying diseaseassociated genes in complex human diseases. A. Mezlini. 1853T Integrated database and knowledge base for genomic prospective cohort study in Tohoku Medical Megabank toward personalized prevention and medicine. S. Ogishima. 1854F Phoenix Web: Presenting Relevant Lab Data and Receiving Feedback from Outside Sources. A. M. Sanchez.
1857F Piloting Methods for Integrating Neuroimaging and GWAS Data in Bipolar Disorder Studies. H. Cao. 1858W Accessing genomic evidence for clinical variants with new NCBI services. S. Sherry. 1859T‡ A visual semantic similarity guided approach to variant prioritization and discovery in genome-wide diagnostics. R. James. 1860F Tracking data provenance at the ENCODE DCC. E. T. Chan. 1861W Facilitating Data Sharing through a CloudBased Data Platform. M. Kaganovich. 1862T A new publicly accessible resource for comprehensive recessive-disease variant curation: the GenePeeks Research Browser (GPRB). R. M. Lim. 1863F Bitmap indexing of genotyes improves functionality of an in-house distributed data query system. H. Qiu. 1864W Extending data access at the EGA. D. Spalding. 1865T An empirical evaluation of redundant annotations in common reference sources for tertiary analysis. J. Warren. 1866F Integrated analysis of germline, omic and disease data. Z. Yang. 1867W‡ Estimating Components of Heritability Explained by Gene Expression. L. J. O’Connor. 1868T Standardized analysis and sharing of genomephenome data for rare disease research through RDConnect’s platform. S. Beltran. 1869F Integrative longitudinal analysis of ribosome occupancy and protein synthesis during chemotherapeutic response reveals complex translational dynamics. T.-Y. Liu. 1870W Structural variation discovery in dogs using whole-genome sequencing. M. Arumilli. 1871T The Human-Mouse Disease Connection (HMDC) Portal: recent updates enabling discovery. J. T. Eppig. 1872F Homology curation at SGD: Yeast and yeast research inform genetic medicine. S. R. Engel. 1873W‡ Applications of long read sequencing: Human cDNA sequencing on the Oxford Nanopore MinIon. S. Goodwin.
‡ Indicates Reviewers’ Choice Abstract The author listed is the first/presenting author that submitted the abstract. The letter following each poster number indicates the day that authors will be present at their posters. W=Wednesday; T=Thursday; F=Friday. Taking photographs or recording posters is strictly prohibited if the author has displayed the no photography symbol. You agreed to adhere to this policy when registering.
POSTER SESSIONS 151 1874T Fast and computationally efficient joint genome calling using Spiral Encrypted Compression (SpEC). J. Bruestle.
1876W Performance comparison of four commercial human whole-exome capture platforms. D. Shigemizu. 1877T Evaluation of HiSeq X Ten Performance: Towards Clinical Applications. K. Walker. 1878F Accurate quantification and qualification of FFPE samples increases success rate of NGS library prep and sequencing. B. Arezi. 1879W Repair of FFPE Extracted DNA Increases Next Generation Sequencing Library Yields and Quality. F. Stewart. 1880T iDASH: a secure cloud environment for biomedical data analysis, storage and sharing. O. Harismendy. 1881F Mutations on a DNase I Hypersensitive Sites in Human lead to Tumorgenesis. W. Jin. 1882W Development of a Low Input FFPE workflow for Whole Exome Sequencing. B. Marosy. 1883T Massively parallel identification and annotation of causal 3’UTR regulatory variants. A. Biton. 1884F Towards a Standardized and Automated Workflow for Extracellular Vesicle Isolation and Characterization. C. T. Schwartz. 1885W‡ A Multi-Ethnic Genotyping Array for the Next Generation of Association Studies. C. R. Gignoux. 1886T Simplified adapter design for sequencing the Genome-scale CRISPR-Cas9 Knockout (GeCKO) libraries on the Illumina platform. W. Wang.
1893F Massively parallel single nucleotide mutagenesis using reversibly-terminated inosine. G. Haller. 1894W Pushing the Limits of Small RNA-Seq with Chemically Modified Adapters. S. Shore. 1895T Improving the information content of long fragment read technology by expansion to 5,000 compartments. O. Wang. 1896F‡ Single Tube, Whole Genome Phasing and Assembly using Bead-based Index Partitioning. F. Zhang. 1897W Sequencing the B-cell and T-cell repertoire. M. Karaca. 1898T High quality library construction and reliable quantitation with NEBNext reagents. E. Yigit. 1899F‡ A recombination-based technology in Escherichia coli for cloning large and specific human DNA sequences. L. Brunelli. 1900W Unique molecular indexes to remove PCR bias in bisulfite sequencing. I. Lee. 1901T Rapid extraction of high yield, high quality DNA from tissue samples. D. O’Neil. 1902F Pan-microbial detection using Axiom® Genotyping Solution from Affymetrix. P. Rack. 1903W Automation of Micro RNA and Total RNA Purification from FFPE using the Beckman Coulter Agencourt FormaPure Kits and Biomek liquid handler. B. Lee. 1904T Targeted SMRT® Sequencing and Alternative Splice Detection of cDNA using Roche NimbleGen SeqCap Enrichment. D. Raterman.
1887F Enabling population-scale PCR-free whole genome sequencing. J. Abreu.
1905F Improved sequencing and transcript detection utilizing an RNase H-mediated ribosomal RNA depletion method. D. Sanjai.
1888W Sequencing the needle in the haystack: targeted capture for forensic DNA sequencing. M. Carpenter.
1906W Isolation and processing of 1000s of single cells for genomics applications using Nanowell Arrays. M. Srinivasan.
1889T Producing 768 whole exomes per day with a highly optimized transposase-based library preparation protocol. A. Cheney.
1907T High-Throughput, High-Precision, Single-Cell Gene Expression Analysis Using a New BD FACS™ Cell Sorter. X. Wang.
1890F Evaluation of DNA sample fragmentation methods for input into library construction protocols. B. D. Craig.
1908F Integrated DNA and RNA sequencing of the same cell. J. He.
1891W‡ Sequencing-based, megabase-scale haplotypes resolve the complex genomic structure of germline and primary cancer genomes. H. P. Ji.
1909W Novel Luminex assay for Telomere Length measurement does not show Well Position Effects like qPCR. M. G. Kibriya.
‡ Indicates Reviewers’ Choice Abstract The author listed is the first/presenting author that submitted the abstract. The letter following each poster number indicates the day that authors will be present at their posters. W=Wednesday; T=Thursday; F=Friday. Taking photographs or recording posters is strictly prohibited if the author has displayed the no photography symbol. You agreed to adhere to this policy when registering.
POSTER SESSIONS
1875F NGS Library Prep Methods to Achieve Comprehensive Coverage for WGS and WGBS from Low DNA Input. L. Kurihara.
1892T A Novel Topo-Based Ligation Technology for NGS Library Preparation. J. Zheng.
152 POSTER SESSIONS 1910T Fusion Gene Detection and Gene Expression Analysis of Circulating RNA in Plasma. J. Gu. 1911F‡ FlightDeck: a self-service web-portal for reproducible genomics research in the Cloud via Docker container. J. Kim. 1912W Web Tool to Guide Submission to ClinVar. M. J. Landrum. 1913T Ingenuity Variant Analysis, leveraging the Knowledge Base and HGMD®, achieves over 30x enrichment in biologically relevant variants from whole genome and exome sequence data from patients with rare disease. S. Shah. 1914F Impact of Genetic Variation on Three Dimensional Structures and Functions of Proteins. R. Bhattacharya. 1915W Simultaneous Quantification of HDR and NHEJ Alleles Induced by Genome Editing Using ddPCR. J. Berman. 1916T Correcting a dysfunctional splicing site of the HLA-DRB1 gene from CTD-2510D15 bacterial artificial chromosome (BAC) using the recombineering method. K. C. Chen. 1917F Long range phasing of cardiac disease genes using new long read sequencing technologies. A. Dainis.
Clinical Genetic Testing 1918W Development of a Target Capture-Based MultiGene Next Generation Sequencing Assay for Detection of Variants in Solid Tumors. R. Kanchi Ravi. 1919T CancerDIRECT: Targeted enrichment of cancerassociated genes from FFPE samples. K. Patel. 1920F Development of research genetics panel of 28 genes known to be associated with Primary Ciliary Dyskinesia (PCD) using Ion Torrent Technology. M. A. Zariwala. 1921W Clinical Whole Exome Sequencing from Dried Blood Spot Identifies Novel Genetic Defect Underlying Asparagine Synthetase Deficiency. A. Abhyankar. 1922T‡ Sherloc: Evaluation of a Scalable Score-based Implementation of the ACMG 2015 Clinical Variant Interpretation Guidelines. M. Anderson. 1923F Development of Next Generation Sequencing Based Genetic Diagnosis and Screening Panel for Hereditary Periodic Fever Syndromes. T. Avsar. 1924W A custom-designed next generation sequencing panel detecting extremely low-level mosaic mutations in overgrowth syndromes. F. Chang.
1925T Analysis of sample multiplexing in massively parallel sequencing of the human clinical exome. J. Devaney. 1926F Augmenting clinical exomes with low pass genome sequence to identify copy number variation. M. O. Dorschner. 1927W‡ Multi-ethnic APOL1 G1 and G2 allele frequencies and clinical validation of a personalized medicine APOL1 genotyping assay for non-diabetic chronic kidney disease risk assessment. A. M. Fedick. 1928T‡ To Confirm or Not Confirm, That is the Question: A Rigorous Approach to Evaluating the Importance of Sanger Confirmation of Clinical NGS Findings. S. Lincoln. 1929F Classification of truncating variants in the 3’ end of genes requires a detailed analysis of C-terminal protein structure and function. C. Perreault-Micale. 1930W Clinical validation of a NGS based in vitro diagnostic (CE-IVD) kit for targeted detection of actionable gene rearrangements in lung cancer specimens. J. Schageman. 1931T Non-ceruloplasmin-copper involvement in Alzheimer’s disease and Mild Cognitive Impairment. R. Squitti. 1932F Whole Exome Sequencing for Molecular Diagnosis of Chinese Patients with Rare Genetic Disorders. J. Wang. 1933W Strategies for calculating variant confidence by combining sequencing results. N. Chennagiri. 1934T CLIP-Cap: Combined Long-Insert PairedEnd and Capture Sequencing for precise and comprehensive analysis of complex genomic rearrangements. C. Purmann. 1935F Next-generation sequencing-based genetic testing of malignant hyperthermia. H. Yeh. 1936W An integrated method for extraction of highmolecular-weight DNA and preparation of genomic sequencing libraries using agarose gels. C. Boles. 1937T Accessing the Full Spectrum of Polymorphisms in HLA Class I & II Genes without Imputation for High Throughput Disease Association and Evolutionary Research. S. Ranade. 1938F Comparison of third-generation sequencing with Sanger for HLA haplotyping in the context of a clinical study. E. Palescandolo. 1939W Chromosomal microarray as a clinical diagnostic test for undiagnosed rare disease. H. Kim.
‡ Indicates Reviewers’ Choice Abstract The author listed is the first/presenting author that submitted the abstract. The letter following each poster number indicates the day that authors will be present at their posters. W=Wednesday; T=Thursday; F=Friday. Taking photographs or recording posters is strictly prohibited if the author has displayed the no photography symbol. You agreed to adhere to this policy when registering.
POSTER SESSIONS 153 1957W‡ Data re-analyses lead to improved molecular diagnosis rate in clinical whole exome sequencing (WES): experience in 5,700 cases. P. Liu.
1941F Newborn Screening for Spinal Muscular Atrophy. W. Hwu.
1958T‡ Genetic predisposition of human herpes virus associated lymphoproliferative disorders. H. Liu.
1942W CYP2D6 genotyping with the PacBio RSII using multiplex targeted long amplicon sequencing. S. J. White.
1959F Sample ID Quality Control and Methodological Improvements for NGS Gene Panels. J. M. Marqués.
1943T Mutation screening of the SLC26A4 gene in Brazilian non-syndromic sensorineural prelingual deaf individuals. S. C. S. Carvalho. 1944F Is Sanger Sequencing Still the Gold Standard? T. F. Beck. 1945W A 4,500 Gene, Short-turn-around-time, NGS Neonatal Intensive Care Diagnostics Panel. S. Dames. 1946T Clinical applicability of direct-to-consumer exome analysis. J. Vengoechea. 1947F Effect of Formalin Fixation on Targeted Sequencing and Genomic Analysis in Cancer. R. K. Alla. 1948W Defects in TANGO2 cause episodic muscle weakness, rhabdomyolysis and cardiac arrhythmia. J. A. Rosenfeld. 1949T Copy number variation detected by CMA- A review of 2000 cases. Y. Hadid. 1950F Contributions of microarray data to the molecular diagnosis in 5700 consecutive clinical whole-exome sequencing (WES) cases. W. Bi. 1951W Next-generation sequencing and the molecular diagnosis of newborns in the neonatal intensive care unit. H. Daoud. 1952T Clinical exome sequencing: accelerating the pace of diagnosis and gene discovery for improved patient management. C. Eng. 1953F Diagnostic Exome Sequencing (DES) provides a diagnosis for 23% of adult patients. K. D. Farwell Hagman. 1954W Clinical Diagnostic Yield for Autism and X-Linked Intellectual Disability Mutation Detection by Targeted Panels versus Whole Exome Sequencing: the GGC Experience. J. Lee. 1955T Clinical Exome Sequencing as a First-Line Molecular Diagnostic Test for Mendelian Disorders. H. Lee. 1956F Establishing the next generation sequencing based genetic testing for pathological jaundice related diseases. H. Li.
1960W A Quality Assurance Framework for Supporting a Clinical NGS Laboratory. S. Marshall. 1961T Deciphering the best DNA extraction method for massively parallel sequencing of the human clinical exome. B. Meltzer. 1962F Detection of small size CNVs (< 20 genes) in patients with epilepsy and related disorders. L. Meng. 1963W Prenatal diagnosis of fetal akinesia deformation sequence caused by mutations in KLHL40. X. Tian. 1964T Diagnosing skeletal disorders in the next generation sequencing era: lessons learned from skeletal disorder panels on 175 patients. Y. Xue. 1965F When the Gold Standard is supplanted by Platinum: Analysis of the reliability of Sanger sequencing compared to that of Next-Generation Sequencing. A. S. Zare. 1966W Exon-level arrayCGH identifies novel multi-exon copy number variants in the TTN gene in patients with dilated cardiomyopathy. O. D. Cano. 1967T Broadening the mutational spectrum of Cornelia de Lange syndrome: identification of four novel HDAC8 deletions including the first report of a deletion in mosaic state. M. Helgeson. 1968F Success of next generation sequencing usage for adults and newborns affected with neuromuscular and skeletal disorders. K. M. Rocha. 1969W Gross deletion of TSPAN12 detected in patients with familial exudative vitreoretinopathy. J. Song. 1970T‡ Whole Exome Sequencing and Whole Mitochondrial Genome Sequencing for the Molecular Diagnosis of Mitochondrial Disorders. R. Bai. 1971F Impact and implementation of benchmarking frequency thresholds for variant filtering in clinical diagnostics. M. C. Dulik. 1972W The Genome Clinic in Geneva: development of an efficient and patient-friendly diagnostic application of NGS. E. B. Hammar. 1973T Pre-clinical cancer: an example of how genomics could reshape the prognostic paradigm. E. G. Seaby.
‡ Indicates Reviewers’ Choice Abstract The author listed is the first/presenting author that submitted the abstract. The letter following each poster number indicates the day that authors will be present at their posters. W=Wednesday; T=Thursday; F=Friday. Taking photographs or recording posters is strictly prohibited if the author has displayed the no photography symbol. You agreed to adhere to this policy when registering.
POSTER SESSIONS
1940T Analysis of genetic variation and haplotypes of CYP2D6 amplicons by long-read nanopore DNA sequencing. M. A. Kennedy.
154 POSTER SESSIONS 1974F‡ Prevalence of incidental findings of potentially actionable variants in exome chip in the CHARGE consortium. M. K. Puurunen.
1990W‡ Case series of colorectal cancer patients with BRCA1/2 mutations: Finding actionable genes in patients with atypical presentations. K. Vikstrom.
1975W Exome sequencing is an efficient method for the molecular characterization of rare Mendelian disorders. A. E. Bale.
1991T Whole genome sequencing as a clinical diagnostic tool for heterogeneous Mendelian disease. J. M. Ellingford.
1976T‡ An integrated approach to genetic diagnosis: Genomic research and clinical care at the TGen Center for Rare Childhood Disorders. A. M. Claasen.
1992F Genome versus exome sequencing: Is WGS the better WES? K. Oexle.
1977F Lessons from Clinical Exome Sequencing in the Montana Genetics Program. A. F. Elias.
1993W Diagnostic Exome Sequencing Identifies Alterations in the Newly Characterized Gene, COQ4, Expanding the Phenotypic Spectrum. M. Tsang.
1978W Utility and limitations of exome sequencing as diagnostic tool for bilateral sensorineural hearing loss. V. Jayaraman.
1994T Exome sequencing of patients with primary immunodeficiencies; translational genomics with direct clinical implications. P. Arts.
1979T Clinical Exome Sequencing Experience in 4866 Consecutive Cases. J. Juusola.
1995F Expanding the phenotypic and mutational spectrum of DYRK1A – a rare cause of intellectual disability and microcephaly. A. Knight Johnson.
1980F Exome sequencing as a diagnostic test to establish the molecular cause in renal disorders. D. Lugtenberg. 1981W Improved Sensitivity and Rapid Confirmation of Variants via Orthogonal Sequencing of Exomes. J. Thompson. 1982T Experiences with the dissemination of secondary findings by diagnostic exome sequencing. H. G. Yntema. 1983F Laboratorial diagnosis of the Fragile X syndrome: a fast, reliable and effective methodological approach supporting the Genetic Counseling services. G. Molfetta. 1984W Clinical implementation of in silico gene panel testing for clinically heterogeneous disorders using exome sequencing. R. K. Basran. 1985T Analytical validation of a saliva collection and DNA extraction protocol for a 25-gene hereditary cancer panel. J. Cassiano. 1986F‡ Performance of ACMG variant classification guidelines within and across 9 CLIA labs in the Clinical Sequencing Exploratory Research (CSER) Consortium. G. P. Jarvik.
1996W A family with X-linked creatine transporter deficiency diagnosed by whole exome sequencing. M. Mori. 1997T Application of multigene panel sequencing in prolonged QT interval patients with no mutation detected in KCNQ1, KCNH2, and SCN5A. S. Seo. 1998F A population-based genomic study of inherited metabolic diseases detected through newborn screening. K. Park. 1999W Comprehensive analysis of genes associated with cobalamin deficiency, methylmalonic aciduria and homocystinuria by clinical next generation sequencing identifies novel mutations. J. Zhang. 2000T The usefulness of array as a clinical diagnostic tool in patients with congenital malformations and developmental delay: Brazilian experience in 162 children. E. A. Zanardo. 2001F Improved methods for diagnosing mitochondrial disorders using whole exome sequencing. I. A. Barbosa. 2002W Novel Mitochondrial Variant Identified in Leber Hereditary Optic Neuropathy Patients. S. Lee.
1987W Bias has no place in exome sequencing. K. B. Pechter.
2003T Identification of known and novel mutations in Mitochondrial Disorders. J. Sheth.
1988T Cytogenomic and molecular refinement of STRC and CATSPER2 deafness-infertility syndrome deletion breakpoints. L. Shi.
2004F Paternity Reclaimed: Ancestry Testing Reveals a Unique Case of Congenital Chimerism. K. M. Sheets.
1989F Novel compound heterozygous LIAS mutations cause glycine encephalopathy. Y. Tsurusaki.
2005W Improved diagnostic yield of neuromuscular disorders applying whole exome sequencing for patients arising from consanguineous population. Z. Fattahi.
‡ Indicates Reviewers’ Choice Abstract The author listed is the first/presenting author that submitted the abstract. The letter following each poster number indicates the day that authors will be present at their posters. W=Wednesday; T=Thursday; F=Friday. Taking photographs or recording posters is strictly prohibited if the author has displayed the no photography symbol. You agreed to adhere to this policy when registering.
POSTER SESSIONS 155 2006T Pitfalls of multiple ligation-dependent probe amplification in DMD gene mutation analysis. M. Kim.
2008W The Diagnostic Yield of a Multi-Gene Panel for Neuromuscular Disorders with Special Consideration to Variants of Unknown Significance. A. S. Lindy. 2009T Allele-specific digital PCR to differentiate CYP2D6 heterozygous duplication events. P. A. Hegerich. 2010F Resolving false positive CYP2D6 genotype results: CYP2D7 variation is the culprit. A. K. Riffel.
2024T Rapid Capture Methods for Comprehensive Carrier Screening. D. Muzny. 2025F Comparison between HPV Oncotect and Nuclisens EasyQ assay and its potential role in detecting preneoplastic lesions of the cervix. F. Papa. 2026W Dried blood spot RNA sequencing (DBSRNA-Seq): A novel approach for the identification of circulating biomarkers. A. Wolfe.
2011W Characterizing CGG footprint at FMR1 gene by TP-PCR: Implication in diagnosis. S. Agarwal.
2027T Using a new multiplex CNV analysis technology detecting SLC26A4 deletions and duplication in 84 Chinese subjects with enlarged vestibular aqueduct. H. Yuan.
2012T Increased identification of CFTR mutations using an expanded panel of validated pathogenic mutations. W. Sun.
2028F TINA modified primers allow faster PCR. S. M. Echwald.
2013F Hemoglobin Depletion Increases Sensitivity of Next Generation Sequencing-based Transcriptome Profiling. D. Munafo.
2029W Exome sequencing in children with lifethreatening community-acquired Pseudomonas aeruginosa infection. J. Fellay.
2014W Association analysis of genetic variants with type 2 diabetes in a Mongolian population in China. H. Bai.
2030T Molecular inversion probe based re-sequencing in a clinical setting – highlighting BRCA1 and BRCA2. A. Hoischen.
2015T Identification and characterization of aberrant splicing variants using a generic approach. A. J. Bergsma.
2031F Achieving high-sensitivity for clinical applications using augmented exome sequencing. A. Patwardhan.
2016F A comprehensive analysis of ultrastructures of erythrocytes from patients with Glucose-6Phosphate Dehydrogenase deficiency by atomic force microscopy. F. Zishui.
2032W‡ Rapid screening of severely ill newborns and infants using whole genome sequencing. R. J. Sinke.
2017W Comprehensive Glycomics Analysis by MALDI TOF/MS in Human CSF. X. Li. 2018T Detection of Large Rearrangements in a Pancancer Gene Panel using Next Generation Sequencing. D. Mancini-DiNardo. 2019F Prognostic prediction of prostate cancer metastasis and biochemical recurrence. A. Pearlman. 2020W Identification of a novel homozygous COL18A1 mutation causing Knobloch syndrome using homozygosity mapping and whole exome sequencing. A. Haghighi. 2021T Screening for mutations and variants in FSHR gene in women with Premature ovarian failure in a South Indian cohort. M. Sujatha. 2022F Development and clinical validation of a novel diagnostic test for Mucin1 kidney disease. B. Blumenstiel.
2033T‡ Initial evaluation in constitutional cytogenomics of CNVkit, an algorithm for genomewide copy number determination using on- and offtarget reads in whole exome sequencing data. A. Wiita. 2034F Clinical whole exome sequencing reveals previously unreported likely pathogenic variants in the SCN8A gene in patients with early onset epileptic encephalopathy with intellectual disability. F. Vetrini. 2035W Development of a high throughput workflow for CFTR mutation screening. T. Hartshorne. 2036T Validation of a high resolution NGS method for detecting spinal muscular atrophy carriers among phase 3 participants in the 1000 Genomes Project. J. L. Larson. 2037F Standardizing the quality QC of any DNA isolation to safeguard the success of genetic testing. T. Martens. 2038W Genetic testing supply and demand: Tracking growth and competition in the genetic testing marketplace. T. A. Murphy.
‡ Indicates Reviewers’ Choice Abstract The author listed is the first/presenting author that submitted the abstract. The letter following each poster number indicates the day that authors will be present at their posters. W=Wednesday; T=Thursday; F=Friday. Taking photographs or recording posters is strictly prohibited if the author has displayed the no photography symbol. You agreed to adhere to this policy when registering.
POSTER SESSIONS
2007F Informative results of exome sequencing in 10 out of 20 cases/sibships. M. Smith.
2023W NGS-based Carrier Screen for Gaucher’s Disease Calls Variants and Detects Large Rearrangements Between GBA and GBAP1. K. M. D’Auria.
156 POSTER SESSIONS 2039T “Ion Ampliseq Custom Arrhythmia Panel” comprising 68 cardiac channelopathy genes is a gold standard for the rapid and sensitive detection of novel genes and variations in Long QT (LQT) syndrome. B. Turkgenc. 2040F Genetic and epigenetic analysis of amyotrophic lateral sclerosis (ALS) patients in the Slovenian population. M. Ravnik-Glavac. 2041W‡ The most variable region of the genome: The next generation of HLA-typing platforms. J. Kaur. 2042T DIRECT targeted library preparation for Illumina Sequencing. C. Hendrickson. 2043F PCR based target enrichment for NGS panels and Sanger variant confirmation. S. Lefever. 2044W Comprehensive Genetic Exploration of Skeletal Dysplasia Using Targeted Exome Sequencing. J. Bae. 2045T Discovery of small RNA biomarkers of hypertension through next-generation sequencing of urinary exosomes. A. R. Davis. 2046F Maternal capillary blood: A new source of circulating cell-free fetal DNA for noninvasive prenatal testing. R. Primacio. 2047W Capturing phenotype data and standardising recruitment for rare diseases in the Genomics England 100,000 genome project. A. D. Devereau. 2048T HLA variant identification techniques in African Populations. M. O. Pollard. 2049F Impact of reasonable genetic testing in prevention of rare genetic disorders. F. Hashemi-Gorji. 2050W‡ Application of Serum miRNA Signature for Minimization of Immunosuppression and Diagnosis of Rejection Following Liver Transplantation. B. Keating. 2051T A protein glycosylation screen to diagnose rare genetic disorders and unravel disease mechanisms. M. Davids. 2052F Identification of SPINK 5 mutations in consanguineous families confirms the diagnosis of Netherton syndrome. A. Mirzaei.
2056W Association between single nucleotide polymorphism of BMP5 gene and risk of knee osteoarthritis. RN. Srivastava. 2057T Are signs of obesity and hyperphagia still relevant for the clinical suspicion of Prader-Willi Syndrome? Evidence from a novel quantitative clinical diagnostic model. L. Cordeiro. 2058F‡ Exon targeted array CGH for identification of clinically relevant small sized, intragenic CNVs. A. Patel. 2059W Deficiency of Interleukin-1 Receptor Antagonist (DIRA): Report of the First Indian Patient and a Novel Deletion Affecting IL1RN. A. Almeida de Jesus. 2060T How to translate next generation sequencing (NGS) from research to clinical practice? G. Barcia. 2061F Secondary Finding Preferences in Whole Genome Sequencing: experiences with a large developmental delay cohort. K. East. 2062W‡ ClinGen Actionability Working Group: Clinical Actionability in the context of Secondary Findings in Adults and Application to the ACMG 56. J. E. Hunter. 2063T Implementation of Genetic Sequencing into Clinical Practice: The Personalized Diabetes Medicine Program. J. W. Kleinberger. 2064F The diagnosis of neuronal ceroid lipofuscinosis by next generation sequencing eye and seizure panels. E. C. Lisi. 2065W Genetic Diagnosis for Deafness in a Large Clinical Cohort. C. M. Sloan-Heggen. 2066T Detection of 3 novel mutations in the GAA gene in 3 Iranian families with glycogen storage disease type II. S. Tabei. 2067F Pilot data from the Veritas Genetics myGenome Project. J. V. Thakuria. 2068W Diabetic Ketoacidosis in Vanishing White Matter. H. Alamri. 2069T Clinical Rapid Whole Exome Sequencing Experience. D. Copenheaver.
2053W The spectrum of pathogenic and likely pathogenic variants observed in individuals with melanoma undergoing inherited cancer testing. D. Farengo-Clark.
2070F Next-Generation Sequencing test within a neurologic region of interest leads to diagnosis of RYR1-related disorder for 36-year-old female after three decades. P. Gerrol.
2054T Identification of pathogenic/likely pathogenic variants in individuals reporting a personal history of both breast and colorectal cancer. M. Marshall.
2071W Clinical results from a pediatric neurological region of interest using an orthogonal NGS approach to identifying variants. E. J. White.
2055F Massive analysis of cancer genes in high cancer risk patients by next generation sequencing. J. PuigButille.
2072T De novo mutations in prenatal trios with abnormal ultrasound findings detected by high coverage NGS panel analysis. H. Dai.
‡ Indicates Reviewers’ Choice Abstract The author listed is the first/presenting author that submitted the abstract. The letter following each poster number indicates the day that authors will be present at their posters. W=Wednesday; T=Thursday; F=Friday. Taking photographs or recording posters is strictly prohibited if the author has displayed the no photography symbol. You agreed to adhere to this policy when registering.
POSTER SESSIONS 157 2073F Rare Genomics Institute research initiative provides non-profit patient services enabling deep insights into rare disease conditions through genome sequencing and cloud collaboration. C. J. Lin.
2075T Review of PRPH2 (RDS) mutations found in patients enrolled in the National Ophthalmic Disease Genotyping and Phenotyping Network (eyeGENE®). M. J. Reeves. 2076F Development and implementation of a targeted next generation sequencing (TNGS) strategy for the molecular diagnosis of intellectual disability. S. Hanein. 2077W Comprehensive genetic testing of 74 probands with Waardenburg syndrome using massively parallel sequencing. J. Cheng. 2078T Comprehensive molecular analysis of the ABCA4 gene in Stargardt disease patients of the German population. H. L. Schulz. 2079F First report of molecular genetics diagnosis of Niemann Pick disease in North-West of Iran. E. Abedini. 2080W SPATA5 mutations identified by whole exome sequencing cause a novel autosomal recessive syndrome characterized by microcephaly, intellectual disability, seizures, and hearing loss. K. G. Monaghan. 2081T‡ The Emerging Need for Genetic Testing in Clinical Psychiatry. C. G. Bouwkamp. 2082F Does this patient need to be tested for Lynch Syndrome? Assessing the reliability of family history for ascertainment. H. C. Cox. 2083W Clinical and radiographic indications for genetic testing of spondylocostal dysostosis. M. Lefebvre. 2084T Exome sequencing in intellectual disability and epilepsy. J. Halvardson. 2085F UPD1 in a Newborn with Multiple Congenital Anomalies. A. R. Seman. 2086W Genetic investigation of cystic fibrosis transmembrane regulator mutations in a cohort of consecutive patients candidate for assisted reproductive techniques. C. Vaccarella. 2087T‡ Detection of Translocations in Clinical Cancer Samples using Targeted NGS Data. S. Agrawal. 2088F Report of a patient with cystic fibrosis and homozygosity for the Q1100P CFTR variant. K. E. Singh.
2091F Microcephaly panel testing reveals an exonlevel CASK deletion in a patient with a previously inconclusive whole exome sequencing result. A. Shanmugham. 2092W DFNB4 linkage analysis and PDS mutation detection in Iranian patients with deafness. N. Yazdanpanahi. 2093T Clinical laboratories collaborate to resolve variant interpretation differences in ClinVar. S. M. Harrison. 2094F Beyond the ACMG 56: Parental choices and initial results from a comprehensive whole genome sequencing-based search for predictive genomic variants in children. M. S. Meyn. 2095W Clinical diagnostic pipelines at the Exome Laboratory in Baylor Miraca Genetics Laboratories. Y. Ding. 2096T‡ Interpreting Exome Data Using SelectionBased Prioritization. J. T. Shieh. 2097F Successful linkage analysis in classical phenylketonuria families followed by direct sequencing and mutation detection. S. Tabei. 2098W Genetic variation in the SMAD3 gene is associated with knee osteoarthritis in north Indian population. A.ch. Sharma. 2099T Miniaturized next-generation sequencing (NGS) library preparation and quantification - ultra low sample input and ultra low cost libraries. S. Vaezeslami.
Prenatal, Perinatal, and Reproductive Genetics 2100T Fetal Jugular Lymph Sacs - What is the Significance? D. Chitayat. 2101F Prenatally diagnosed aqueductal stenosis (triventricular dilation) and postnatal/autopsy findings. Report on 100 cases. R. Jobling. 2102T A study of X and Y chromosomal variations in a large fertile child-bearing-age population. P. Kezmarsky. 2103F Maternal copy number variants are a significant reason for false positive noninvasive prenatal test results. D. I. Chudova. 2104T Comprehensive Analysis of Clinical Performance of HarmonyTM Prenatal Test. R. Stokowski.
2089W Development and Implementation of a Bioinformatics Framework to Address Pseudogenes in Clinical Whole-Exome Test. K. Cao. ‡ Indicates Reviewers’ Choice Abstract The author listed is the first/presenting author that submitted the abstract. The letter following each poster number indicates the day that authors will be present at their posters. W=Wednesday; T=Thursday; F=Friday. Taking photographs or recording posters is strictly prohibited if the author has displayed the no photography symbol. You agreed to adhere to this policy when registering.
POSTER SESSIONS
2074W Diagnosis of autosomal dominant polycystic kidney disease (ADPKD) by full gene sequencing and MLPA. M. Procter.
2090T Comparing gene panel and augmented exome tests using a gold-standard dataset. G. Chandratillake.
158 POSTER SESSIONS 2105F‡ Population screening of 328,886 individuals reveals ethnic disparities in guidelines and cumulatively greater risk for severe recessive disease than for Down syndrome or neural tube defects. I. S. Haque. 2106T Next Generation Sequencing Assay Accurately Determines Carrier Status for Spinal Muscular Atrophy. X. Wang. 2107F Establishing criteria for the return of results from genome sequencing for the purpose of carrier screening. K. A. B. Goddard. 2108T Etiological Evaluation of Adverse Reproductive Outcome: A Large Study from South India. A. Jyothy. 2109F Whole-genome amplified DNA from neonatal dried blood spot samples produces high-quality exome-sequence data. M. V. Hollegaard. 2110T An assessment of parental perspectives, understanding, and responses to fetal whole exome sequencing. N. Vora. 2111F All FMR1 premutations are not equal: impact of frequency and repeat distribution on risk for fragile X syndrome. G. A. Lazarin. 2112T High-efficiency biomarker extraction from dried blood samples using Adaptive Focused Acoustics (AFA™). U. Geigenmuller.
2121F Molecular analysis of Y-chromosome microdeletions and its relationship with male infertility in Zanjan, Yazd and East Azerbaijan province of Iran. M. r. Ranjouri. 2122T Evaluation of the expression of AR and SOX3 genes in sertoli cells of azoospermic patient. M. Sabbaghian. 2123F Low levels of PAPP-A as a sole parameter predicting high risk of aneuploidy in the fetus in pregnant women younger than 35 and NT A with diffuse and intestinal gastric cancer in Mexican population. A. R. BustosCarpinteyro. 2647W High Grade Glioblastoma Patients have Increased Levels of Systemic Chromosomal Instability, detected by High Resolution Flow Cytometry in Circulating Reticulocytes. M. Camargo. 2648T The Prevalence of CYP2D6 Gene Polymorphisms among Filipinos and Their Use as Biomarkers for Cancer Risk among Those with Lung Cancer. E. Cutiongco de la Paz. 2649W Germline variant analysis and ancestry inference of 2,153 high-depth whole genomes of patients afflicted with diverse cancers. F. M. De La Vega. 2650T Comparing Heterogeneity across Biomarkers in Cancer Stem Cells and Side Populations in Breast Cancer Cell Lines. D. Dhawan. 2651W Expression Levels of Matrix Metalloproteinase-9 and P-Element Induced Wimpy Testis Like-2 in Prostate Cancer: A Case-Control Study. M. Dianatpour.
‡ Indicates Reviewers’ Choice Abstract The author listed is the first/presenting author that submitted the abstract. The letter following each poster number indicates the day that authors will be present at their posters. W=Wednesday; T=Thursday; F=Friday. Taking photographs or recording posters is strictly prohibited if the author has displayed the no photography symbol. You agreed to adhere to this policy when registering.
POSTER SESSIONS 175 2668T Biopsy-free comprehensive genomic profiling of over 5,000 cancer patients using a CLIA-certified commercial cell-free DNA next-generation sequencing test. S. Mortimer.
2653W Caveolin-1: A Potential Biomarker of Aggressive Triple-Negative Breast Cancer in African American Women. J. Getz.
2669W Genomic variations in plasma cell free DNA differentiate early stage lung cancers from normal controls. S. Xia.
2654T Chromosomal imbalances detected by array CGH from thirty-one Chinese non-smoker adenocarcinomas of the lung. Y. Gu.
2670T Prevalence of BRCA1 and BRCA2 common mutations among Algerian patients with breast and/or ovarian cancer. F. Cherbal.
2655W The landscape of microsatellite instability in cancer exomes. R. J. Hause.
2671W Next-generation sequencing of the BRCA1 and BRCA2 genes for the genetic diagnostics of hereditary breast and/or ovarian cancer. D. Trujillano.
2656T Cell-free urinary microRNA quantification as non-invasive biomarker in patients with bladder urothelial carcinoma. A. Horinek. 2657W Using Rare Mutation Analysis Using Digital PCR on QuantStudio® 3D to Validate Ion AmliSeq™ Next Generation Sequencing for Cancer Research. M. Laig. 2658T Targeted RNA sequencing for simultaneous expression profiling and detection of gene rearrangements in FFPE biopsies. K. Maddula. 2659W Genetic risk assessment for lung squamous cell carcinoma using exome sequencing in Korean men. J. W. Park.
2672T Identification of a circulating miRNA signature for noninvasive detection of early colonic polyps through optimized miRNA-seq of blood plasma. A. Hardigan. 2673W PIK3CA mutational analysis platform utilizing the Labcyte Echo® Liquid Handler to reduce cost, sample amount and increase throughput to broadly assess acquired mutational status. J. Lesnick. 2674T The upregulation mechanisms of leptin-induced ADAMTS-1, involved in angiogenesis. K. O. Yaykasli.
2660T Cancer genomic resources, opportunities and needs in the Latin American region. S. Perdomo.
2675W The contribution of high and moderate penetrance breast cancer susceptibility genes to familial breast cancer risk in BRCAx families. K. N. Maxwell.
2661W Evaluation of four putative genetic risk factors affecting breast cancer susceptibility in patients with sporadic breast cancer. M. Saeidnejad.
2676T Using expression data to define patient specific predictors for survival outcomes in lung adenocarcinoma. G. Cai.
2662T Contribution of molecular changes to uveal melanoma tumorigenesis in a Brazilian cohort. H. Sarubi.
2677W Deubiquitinating enzyme Usp15 regulates cell cycle progression by deubiquitination of spliceosomal protein. T. Das.
2663W Mitochondrial DNA variation as a biomarker for the development of radiation-induced lung toxicity. H. Smeets.
2678T Down-regulation of hTERT in glioblastoma cell lines using siRNA. G. K. Chetan.
2664T Metastatic Signature Profiles in Triple Negative Breast Cancer. K. Upadhyay.
2679W The role of periostin in regulating of early tumorgenesis in oral squamous cell lines carcinomas. G.E-H. Gawish.
2665W Association of Wnt signaling pathway gene variants in gallbladder cancer susceptibility, therapeutic response and survival. A. Yadav.
2680T Molecular cytogenetic characterization of the malignant primitive neuroectodermal tumor cell line SK-PN-DW. N. Du.
2666T Understanding Lung Adenocarcinoma Morphology and Prognosis by Integrating Omics and Histopathology. K. Yu.
2681W Detection of Subtelomeric CNVs in Colorectal Cancer using MLPA. M. Rocha.
2667W Single gene (SG) vs. multi-gene panel (MGP) testing for TP53 germline mutations in Li Fraumeni syndrome (LFS). H. Q. Rana.
2682T Unusual revertant mosaicism in three siblings affected with Fanconi anemia group FA-G. S. Chandrasekharappa. 2683W The G2 micronucleus assay in lymphocytes shows increased radiosensitivity in in healthy BRCA1 mutation carriers. K.BM. Claes.
‡ Indicates Reviewers’ Choice Abstract The author listed is the first/presenting author that submitted the abstract. The letter following each poster number indicates the day that authors will be present at their posters. W=Wednesday; T=Thursday; F=Friday. Taking photographs or recording posters is strictly prohibited if the author has displayed the no photography symbol. You agreed to adhere to this policy when registering.
POSTER SESSIONS
2652T L-1 activity and expression in normal esophagus, Barrett’s esophagus, esophageal adenoarcinoma, and esophageal squamous cell carcinoma. T. T. Doucet.
176 POSTER SESSIONS 2684T Identification of new target genes in microsatellite unstable colorectal cancer by exome sequencing. J. Kondelin. 2685W Integrated landscape of molecular alterations in uveal melanoma. H. Anbunathan. 2686T Somatic and genomic mutation spectrum of unilateral Vestibular Schwannoma (VS). R. Birkenhager. 2687W Comprehensive genomic characterization of three spatially and temporally distinct tumors from different organs in a single patient exhibiting both BRCA2 and VHL germline mutations. S. M. Boyle.
2701W Whole exome sequencing and copy-number variation analysis of 20 neurofibromatosis type 2-associated spinal and cranial meningiomas. A. Pemov. 2702T Driver gene mutations and fusion genes in patients with sezary syndrome. A. Prasad. 2703W Microfluidic Single Cell Exome-seq and RNAseq analysis of Tumor Composition. I. Ragoussis. 2704T Helicobacter DNA integrations in the gastric cancer genome. K. M. Robinson.
2688T Down regulation of TGFB3 plays a critical role in chordoma formation. W. Chen.
2705W Somatic mutation load and risk of colorectal cancer: NGS-study of a large panel of healthy and diseased individuals. N. T. Rodchenko.
2689W Genomic alterations in BCL2L1 and DLC1 contribute to drug sensitivity in gastric cancer. S. Y. Cho.
2706T Enhanced error correction and increased sensitivity in variant calling in FFPE samples with cancer hot spot amplicon panels. T. Singer.
2690T Flying Blind: Building a Cancer Genomic Standard. M. Clark.
2707W Evaluation of single-molecule real-time long-read sequencing as a rapid-turnaround tool for validation of somatic mutations in cancer genomics. A. Uzilov.
2691W Genetic profile of tumorigenesis in Brazilian NSCLC patients. P.GP. Couto. 2692T‡ Breast cancer mutations are enriched in ERVK elements. D. Ebrahimi. 2693W‡ How deep does intra-tumor genetic heterogeneity run in breast cancer? Identifying multiple different mutations in a single gene (intragene heterogeneity) within individual breast cancer tumors. B. Gottlieb. 2694T Complementing NGS panel sequencing by high rersolution custom array CGH increases the mutation detection rate in hereditary breast and ovarian cancer. K. Hackmann. 2695W Somatic mutation detection in urological cancers from liquid biopsies. C. Ionescu-Zanetti. 2696T‡ Case analysis of advanced cancers with Watson Genomic Analytics. T. Koyama. 2697W Highly Sensitive and Cost-Effective Detection of BRCA1 and BRCA2 Cancer Variants in FFPE Samples Using Multiplicom’s MASTR Technology & Single Molecule, Real-Time (SMRT®) Sequencing. S. Kujawa. 2698T Clinical validation of a droplet PCR-based targeted gene panel for the detection of somatic variants in solid tumors. L. Liang. 2699W‡ Cis-regulatory drivers in colorectal cancer. H. Ongen. 2700T Gene polymorphisms vis-a-vis susceptibility to breast cancer and benign breast disease: A casecontrol study from Jammu region of J&K State, India. R. K. Panjaliya.
2708T Comprehensive characterization of the cancer genome by integrating targeted DNA and RNA sequencing. P. Van Hummelen. 2709W Genomic alterations associated with clonal hematopoietic expansion and malignancies inferred in normal human blood samples. M. Xie. 2710T Frequent alterations in cytoskeleton remodeling genes in primary and metastatic lung adenocarcinomas. X. Zhao. 2711W Mutation spectra of BRCA genes in Iranian women with early onset breast cancer, 15 years experiences. V. R. Yassaee. 2712T iCAGES: integrated CAncer GEnome Score for comprehensively prioritizing cancer driver genes in personal genomes. C. Dong. 2713W Sensitive Mutation Detection By Sequencing Circulating Cell-Free DNA. N. Fang. 2714T Low cost, broad panel (100kb) liquid biopsy with reduced DNA sequencing by depletion of wild-type sequence. A. Marziali. 2715W Detection of somatic mosaicism in children with suspected DICER 1 syndrome using high sensitivity sequening with molecular tag-containing Haloplex HS. L. de Kock. 2716T Reconstructing clonal evolutionary process among copy number variants in tumor. A. Tai. 2717W Successful detection of 40 COSMIC hotspot mutations at allelic frequency below 0.5%. A. Mongan.
‡ Indicates Reviewers’ Choice Abstract The author listed is the first/presenting author that submitted the abstract. The letter following each poster number indicates the day that authors will be present at their posters. W=Wednesday; T=Thursday; F=Friday. Taking photographs or recording posters is strictly prohibited if the author has displayed the no photography symbol. You agreed to adhere to this policy when registering.
POSTER SESSIONS 177 2718T The transcriptional landscape and mutational profile of follicular thyroid neoplasm. H. Cho.
2720T‡ The Genomic Landscape of Allelic Imbalance in the Normal-Appearing Airway Field of Cancerization. H. Kadara. 2721W Towards understanding the genomic architecture of cancer genomes. E. T. Lam. 2722T Direct Structural Variation Analysis of FFPE Samples Using Long Mate Pair NGS Libraries. D. Mead. 2723W Genomic alterations profile in triple negative breast tumors with loss of BRCA1 nuclear expression. T. Tapia. 2724T Identifying somatic copy number alterations for cervical cancer in the Latino population. C. Xu. 2725W‡ Racial differences in molecular cytogenetic abnormalities in consecutive black and white patients with multiple myeloma. Y. S. Zou. 2726T Genetic Hotspots of Glioma Progression by Array CGH: A Systematic Review. C. J. DeGraffenreid. 2727W Hepatitis C Virus and Schistosomiasis as A Causative Factor for hTERT Amplification in Hepatocellular Carcinoma. O. M. Eid. 2728T Translocation t(5;16)(q32;p13) and trisomy 8 in a patient with Acute Eosinophilic Myelomonocytic Leukemia. X. Montenegro. 2729W Sensitive cancer fusion detection and discovery in FFPE samples by RNA-Seq. L. C. Watson. 2730T A complex variant of t(7;12) with loss of RB1 locus in a case of Acute Erythroblastic Leukemia. A. Yenamandra. 2731W Transformation of 5q- Syndrome to Chronic Myelogenous Leukemia with a Novel Complex BCR/ ABL1 Translocation with Rapid Transformation to Acute Myelogenous Leukemia: An Update. A. Zaslav. 2732T Multi-omics analysis defines core genomic alterations in pheochromocytomas and paragangliomas. N. Burnichon. 2733W A specific “leukemia diagnostic panels” based on selection of novel relevant biomarkers for leukemiadiagnosis, prognosis and therapeutic decision making. M. Delledonne. 2734T Identification of Two Families with Li Fraumeni Syndrome on Multi-Gene Panel Testing. C. Csuy.
2736T BRCA1/2 Mutation Status Is an Independent Factor of Improved Survival for Advanced Stage Ovarian Cancer. R. Janavicius. 2737W Gene expresion analysis of TNF-α, 5-LOX and iNOS in tumoral and normal adjacent tissue of sporadic colorectal cancer patients. U. SantanaBejarano. 2738T Clinical multiplex genetic testing using a standardized panel approach in a population-based hereditary cancer clinic. K. A. Schrader. 2739W‡ Systematic BRCA1/2 genetic testing in unselected epithelial ovarian cancer- results from the GTEOC study. M. Tischkowitz. 2740T Desmoid tumor as a presenting symptom of FAP in a 54 year old man with a disease causing mutation in APC and family history of FAP. C. Vinkler. 2741W A comparative analysis of the mutaome profile of 10 frequently mutated genes in newly diagnosed and refractory and relapsed acute myeloid leukemia. Y. Zhang. 2742T Alternative genetic treatment technique for leukemia. S. Rashmi. 2743W Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC): A 10-year retrospective chart review of Eastern Ontario referrals. P. T. Bhola. 2744T APC mosaicism in a young woman with juvenile fibromatosis. E. Grindedal. 2745W Phenotypic delineation and bioinformatic detection of the pathogenic variant 5083DEL19 in BRCA1 in two Brazilian patients. R. M. Minillo. 2746T Neuroendocrine tumors of the lower gastrointestinal tract in hereditary colon cancer syndromes. C. Pedley. 2747W Double heterozygosity for BRCA1 and BRCA2 pathogenic variants in a French metastatic breast cancer patient. A. Vilalta. 2748T The changing landscape of hereditary cancer testing: Lessons learned from 1703 patients seen at an NCI designated cancer center. G. L. Wiesner. 2749W Genetic counseling and analysis plan in Von Hippel-Lindau syndrome and pheochromocytoma. W. Smaoui. 2750T Examining severity of cancer history in patients with pathogenic variants in ATM. J. Abernethy.
‡ Indicates Reviewers’ Choice Abstract The author listed is the first/presenting author that submitted the abstract. The letter following each poster number indicates the day that authors will be present at their posters. W=Wednesday; T=Thursday; F=Friday. Taking photographs or recording posters is strictly prohibited if the author has displayed the no photography symbol. You agreed to adhere to this policy when registering.
POSTER SESSIONS
2719W Haplotyping and structural variant detection from whole exome sequencing of 1ng of cancer cell line DNA. K. M. Giorda.
2735W ≤Evaluation of IGK and IGL Molecular Gene Rearrangements According to the BIOMED-2 Protocol for Clinical Diagnosis of Hodgkin Lymphoma≥. S. Ghorbian.
178 POSTER SESSIONS 2751W Renal manifestations of TSC and early onset of hypertension: About two Tunisian familial cases. N. Abdelmoula. 2752T Bilateral, multifocal renal tumors diagnosed as Birt-Hogg-Dubé syndrome confirmed by genetic analysis. S. Park. 2753W Cytosine Modification Signatures Distinguish Clinical Subtypes of Glioblastoma Stem Cells. W. Zhang. 2754T Differential Expression of miR-139-5p as a Saliva Biomarker in Tongue Squamous Cell Carcinoma Patients. M. B. Duz.
2768T The association between RAD51 135G>C polymorphism and breast cancer risk. A.Mr. Alblihy. 2769W Genetics of Breast Cancer in a Highly Consanguineous Population, Challenges and lessons learned so far. A. AlSaegh. 2770T Next Generation Cancer Gene Testing in a Large HMO: the First 10 Months’ Experience. M. Alvarado. 2771W Expression of A-kinase anchor protein 4 (AKAP4) in breast cancer. S. Amini. 2772T Systematic pan-cancer analysis of tumor purity. D. Aran.
2755W HDACi-induced differentiation of myelogenous leukemia results in targeted chromatin accessibility changes. C. L. Frank.
2773W‡ Large scale rare variation case-control studies. Comparing rare variation landscapes in uveal and cutaneous melanoma. M. Artomov.
2756T Distinctive expression profiles of lncRNAs and lncRNA-related miRNAs in glioma subtypes. D. Glavac.
2774T Report of two patients with unclassified variants in BRCA2 gene. How to perform the genetic counseling? M. D. F. Carvalho.
2757W SFRP1 promoter hypermethylation in white blood cells is associated with sprodic breast cancer in Iranian women. Y. Kiumarsi. 2758T Selection of Allelic Expression in lung adenocarcinoma through Genome-wide Allelic Expression Imbalance Analysis. X. Kong. 2759W Tumor DNA methylation profiling in African American men: A high-risk prostate cancer population. R. Rubicz. 2760T Epigenome-wide profiling of DNA methylation in paired prostate cancer versus adjacent benign tissue. J. L. Stanford. 2761W BCL2 : A Relevant Immunohistochemical Marker for Triple Negative Breast Cancer Patients. S. Zubeda. 2762T Thyroid nodules and multinodular goiter associated with germline mutations in DICER1. N. Khan. 2763W Clinical Utility Evaluation of a Multiple-Gene Sequencing Assessment in Chinese Hereditary Breast Cancer. X. Ye. 2764T Germline mutations in RECQL genes identified in high-risk breast cancer families. F. Fostira. 2765W Whole exome sequencing enhances our understanding of pituitary adenoma. K. Reddy. 2766T Challenges in disease gene identification in complex diseases: example from familial melanoma. A. M. Goldstein. 2767W Germline BAP1 mutations misreported as somatic based on tumor-only testing. M. H. AbdelRahman.
2775W Characterization of cycle-regulated genes in a cancer cell line by single cell genomics. O. De la Cruz Cabrera. 2776T The power of next generation sequencing in the detection of breast and ovarian cancer susceptibility genes other than BRCA. M. Eliade. 2777W‡ Mosaic loss of chromosome Y (LOY) in peripheral blood is associated with smoking, shorter survival and increased risk of cancer in men. L. A. Forsberg. 2778T Germline PRKCD mutation linked to childhood EBV+ Hodgkin Lymphoma. M. Ivanova. 2779W Non-random occurrence and early age of onset of diverse lymphoid cancers in families supports the existence of genetic risk factors for multiple lymphoid cancers. S. Jones. 2780T Feasibility of cascade screening in a randomly selected sample of families at risk for hereditary breast cancer from a statewide cancer registry. M. C. Katapodi. 2781W Retaining familial cancer cases and families in a genetic research study on lung cancer. D. Mandal. 2782T A prospective study of mitochondrial DNA copy number and the risk of prostate cancer. A. Moore. 2783W‡ Exploring the regulatory roles of common variants associated with lung cancer subtypes. T. O’Brien. 2784T Correlation between BRAF and MLH1 hypermethylation testing in a Lynch syndrome universal screening program. L. H. Rodgers.
‡ Indicates Reviewers’ Choice Abstract The author listed is the first/presenting author that submitted the abstract. The letter following each poster number indicates the day that authors will be present at their posters. W=Wednesday; T=Thursday; F=Friday. Taking photographs or recording posters is strictly prohibited if the author has displayed the no photography symbol. You agreed to adhere to this policy when registering.
POSTER SESSIONS 179 2785W GSK3β is a pivotal regulator in cervical cancer development and a potential target of therapeutics. A. Saeidian.
2787W Multi-gene panel testing in breast, ovarian, and pancreatic cancer cases: Prevalence and unintended screening recommendations. E. L. Young. 2788T A new method to estimate clonal composition of solid tumors from whole-genome copy number profiles. L. Wu. 2789W Cost-effectiveness of routine screening for Lynch syndrome in endometrial cancer patients up to 70 years of age. A. Goverde. 2790T Genotype-phenotype analysis of Von Hippel Lindau syndrome in Korean families. JS. Lee. 2791W Majority of familial colorectal cancer unexplained by known cancer susceptibility genes. B. A. Thompson. 2792T TruSeq®FFPE DNA Library Prep, a reliable method for preparing high quality Illumina® Whole Genome Sequencing (WGS) libraries from challenging FFPE samples. R. Sanches-Kuiper. 2793W Using a Costello Syndrome cohort as a syndromic model to better understand embryonal rhabdomyosarcoma at the molecular, cytogenetic, and functional level. K. M. Robbins. 2794T‡ Variant of Unknown Significance Rates Vary by Ethnicity and Genes Analyzed. L. Panos.
Molecular Basis of Mendelian Disorders
2801W A mouse modifier study using the Nphp10 (Sdccag8Tn(sb-Tyr)2161B.CA1Cove) model to identify a modifier locus of ciliopathy-related phenotypes. K. Weihbrecht. 2802T Interaction of MAB21L2 with BMP signaling and PAX6 in ocular development. B. Deml. 2803F‡ Ubiquitous expression of the Proteus mutation Akt1 c.49G>A, p.Glu17Lys causes embryonic lethality in mice. M. J. Lindhurst. 2804W‡ Involvement of GTF2IRD1 in the control of facial skin features and patterning of Williams-Beuren Syndrome. C. P. Canales. 2805T Loss of function mutation of EGFR in compound heterozygous state causes severe skin defect, gastrointestinal dysfunction and electrolyte imbalance. T. Yokoi. 2806F Lipoid Proteinosis (LP), a complex neurocutaneous disorder: Novel and recurrent mutations in the ECM1 gene, and consequences of Ecm1 knockdown in zebrafish. L. Youssefian. 2807W Zebrafish genetics and disease models: an emerging model for human disease. S. A. Hutchinson. 2808T Facilitating access to human disease models. S. Rockwood. 2809F Analysis of zebrafish orthologs of the human Peters Plus syndrome gene, b3glcta and b3glctb, using morpholino knockdown and TALEN-mediated genetic knockout assays. E. R. Weh. 2810W A heterozygous mutation of MOV10L1 in a pedigree of spermatogenic failure. J. Lu. 2811T A new mouse model of type 2 Gaucher disease. A. Gonzalez.
2795W‡ Phenotypic and molecular characterization of the SCA28 knockin mouse model harboring the Afg3l2 p.M665R mutation. C. Mancini.
2812F Modeling DPMS function in zebrafish to explore the interface of dystroglycanopathies and congenital disorders of glycosylation. M. Manzini.
2796T Rai1 haploinsufficient mice exhibit abnormal social behavior. K. Walz.
2813W Functional characterization of deleterious alleles in the vitamin B12 receptor, CD320, in humans and mice. D. J. Bernard.
2797F Assessing Behavior and Anxiety in the Dhcr7Δ3-5/ T93M mouse model of Smith-Lemli-Opitz Syndrome. J. L. Cross. 2798W Mouse with substitution of type I collagen 3-hydroxylation site has altered ECM but does not recapitulate the bone dysplasia of types VII/VIII Osteogenesis Imperfecta. J. C. Marini. 2799T Defects of lipid synthesis underlie the age dependent demyelination caused by lamin B1 over expression. Q. S. Padiath.
2814T Strategy for generating and characterizing a zebrafish model of spondylometaphyseal dysplasia with cone-rod dystrophy. J. Jurgens. 2815F Development of a zebrafish model for ATP7Arelated motor neuron disease. D. Martinelli. 2816W Differentially expressed striatal transcripts in the OVT73 ovine model of Huntington ’s Disease. R. G. Snell.
‡ Indicates Reviewers’ Choice Abstract The author listed is the first/presenting author that submitted the abstract. The letter following each poster number indicates the day that authors will be present at their posters. W=Wednesday; T=Thursday; F=Friday. Taking photographs or recording posters is strictly prohibited if the author has displayed the no photography symbol. You agreed to adhere to this policy when registering.
POSTER SESSIONS
2786T Validation of copy number variations in hereditary prostate cancer families using Droplet Digital PCR. K. Wood.
2800F Knockout CERKL gene causes retinal degeneration in zebrafish. S. Yu.
180 POSTER SESSIONS 2817T Functional dissection of PITX2 in zebrafish. K. Hendee. 2818F Postnatal excision of a Bardet-Biedl Syndrome gene results in leptin resistance, leading to obesity. J. E. Garrison. 2819W A Knock-out Mouse Model of CMAMMA (Acsf3 Deficiency) Displays Neurological Phenotype and Methylmalonic Acidemia. M. W. Epping. 2820T Phenotypic characterization of a zebrafish model of Smith-Lemli-Opitz syndrome. C. V. M. Cluzeau. 2821F Motor-phenotypical characterization and neuronal analysis of a transgenic rat model for DYT1 dystonia focusing on age dependent and brain region specific pathological key features from date of birth to old age of rats. V. Gaiser. 2822W Mouse Models of Human Disease: How mouse data provides mechanistic insight into disease etiology and developmental therapeutics. C. L. Smith. 2823T Genomic copy number alterations in nonsyndromic hearing loss. R. Mingroni-Netto.
2834W Informativeness of St14 VNTR marker for carrier detection and prenatal diagnosis of hemophilia A in Iranian families. S. Mansouri derakhshan. 2835T Oculocutaneous albinism in a boy with a complex phenotype, and homozygosity for an ancestral block on chromosome 11 bearing a double set of TYR mutations. S. L. Everhart. 2836F Hereditary motor and sensory neuropathy with proximal dominancy in the lower extremities, urinary disturbance, and paroxysmal dry cough maps to chromosome 1p13.3-1q23. S. Miura. 2837W Adult onset motor neuron disease predominant Triple ‘A’ syndrome in South India- ? due to a novel mutation. D. Selvarajan. 2838T Novel Gene Discovery Using Whole Exome Sequencing and Linkage Analysis in a Large Family with Autosomal Dominant Ataxia. S. Cho. 2839F A Newly Recognized Intellectual Disability Disorder Caused by Variants in TELO2, a gene encoding a component of the TTT complex. J. You. 2840W The Expanding Genetic and Phenotypic landscapes of Deafness Genes. H. Azaiez.
2824F Sporadic Hidradenitis Suppurativa (acne inversa) and acne conglobata are not associated with gamma-secretase gene mutations. N. M. Saiyed.
2841T A Comprehensive Search for Deafness Genes Associated with Inner Ear Anomalies. G. Bademci.
2825W Uniparental origin in ocuocutaneous albinism. W. Cardenas.
2842F PDZD7 and hearing loss: more than just a modifier. KT. Booth.
2826T Novel FGF10 Mutation in Autosomal Dominant Aplasia of Lacrimal and Salivary Glands. J.-W. Kim.
2843W Exome Sequencing for Deafness Genes: Reducing False Positives by Functional Analysis. N. Danial-Farran.
2827F Genome-wide linkage analysis of nonsyndromic cleft lip with or without cleft palate in a large multigenerational Indian family. U. Ratnamala. 2828W Investigation into Clinical Significance of c-FLIP and Jun-B Expression in Psoriatic Patients. N. Salleh.
2844T Genetic variation in genes associated with autosomal recessive non-syndromic hearing impairment. H. Kremer.
2829T Development of refractive errors – what can we learn from retinal dystrophies? V. J. M. Verhoeven.
2845F Application of a targeted next-generation sequencing panel (OTO-NGS-Panel) in a cohort of Brazilian patients with hereditary hearing loss. PZ. Ramos.
2830F A Splicing Mutation in VPS4B Causes Dentin Dysplasia I. F. Xiong.
2846W Whole Genome Sequencing Delineates Genetic Sub-Types of Neuromyelitis Optica. K. Estrada.
2831W Ehlers-Danlos syndrome, hypermobility type is linked to chromosome 8p22-8p21.1 in an extended Belgian family. P. J. Coucke.
2847T‡ HA20: A novel autoinflammatory disease caused by haploinsufficiency of A20, encoded by TNFAIP3 . Q. Zhou.
2832T Molecular diagnosis of F8 gene in sever hemophilia A in the Iranian population. A. Ebrahimi.
2848F Identification of uniparental isodisomy from sequencing data. D. Bis.
2833F Exome sequencing identifies SPG3A and OTOF gene mutations in patients with Pure Hereditary Spastic Paraplegia. S. Majid.
2849W Rare Variant Gene-Based Case-Control Burden Testing in a Mendelian Disease Framework Using Publically Available Control Data. M. Lippincott.
‡ Indicates Reviewers’ Choice Abstract The author listed is the first/presenting author that submitted the abstract. The letter following each poster number indicates the day that authors will be present at their posters. W=Wednesday; T=Thursday; F=Friday. Taking photographs or recording posters is strictly prohibited if the author has displayed the no photography symbol. You agreed to adhere to this policy when registering.
POSTER SESSIONS 181 2850T Identifying candidate mutations for rare birth defects through family trio-based exome sequencing. T. Nicholas.
2852W‡ Inherited disorders in apparently acquired severe aplastic anemia. B. J. Ballew.
2868T Whole Exome Sequencing (WES) to Analyze the Genetic Basis of Cleft Lip and Palate. M. Basha.
2853T Genetic determinism of Primary Osteoarthritis: the EXORHUM project. C. Bauge.
2869F Exome Sequencing in a Multiplex Family with Cleft Palate Only Identifies a Novel Damaging Mutation in ARHGAP29. A. Butali.
2854F Molecular etiology of arthrogryposis in a cohort of families of Turkish origin. Y. Bayram.
2870W Whole Exome Sequencing in a Family with Primary Open Angle Glaucoma. HF Nunes.
2855W Homozygous mutation in the eukaryotic translation initiation factor 2alpha phosphatase gene, PPP1R15B, is associated with severe microcephaly, short stature, and intellectual disability. K. D. Kernohan.
2871T Functional evidence for the involvement of WNT10A in failure of tooth development in humans and zebrafish. M. Zhao.
2856T Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathy. H. Kodera. 2857F Exome sequence analysis identifies novel candidate genes associated with neuronal migration disorders. W. Wiszniewski.
2872F Deletions of the 5’ HOXC genes are associated with lower extremity abnormalities including clubfoot and vertical talus. D. M. Alvarado. 2873W The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy. C. R. Beck.
2858W Identification of a rare variant in POLD1 in a family with familial multiple lipomatosis. C. Mirlene.
2874T New genetic insights into the spectrum of disorders of glycosylation: a patient with multiple congenital anomalies. H. H. Arts.
2859T Novel gene discovery across a large cohort of patients with syndromic craniofacial anomalies. E. J. Bhoj.
2875F De novo mutations in novel histone and epigenetic regulator genes cause multiple genetic syndromes. D. Li.
2860F Accelerating the pace of Mendelian gene discovery via multi-modal data sharing: Geno2MP, the UW-RMD Family Portal, and MyGene2. J. X. Chong.
2876W Whole exome sequencing detects variants in MBTPS2 and ITGB4 in a Brazilian patient with severe ichthyosis congenita and limb malformations. M. P. Migliavacca.
2861W De novo variants in CHAMP1 associated with neurodevelopmental abnormalities and dysmorphic features. A. Telegrafi.
2877T Targeted NGS reveals a high incidence of digenic inheritance in monogenic diabetes and congenital hyperinsulinism. A. Campos-Barros.
2862T Left ventricular hypertrabeculation and gastropathy associated with MIB2 variants altering NOTCH signaling. S. Attanasio.
2878F Molecular characterization of Epidermolysis Bullosa in Iran. H. Vahidnezhad.
2863F Mutations in VEGFR3 signaling pathway explain a third of familial primary lymphedema. E. Fastre.
2879W De novo truncating mutations MSL3 cause a new recognizable syndrome. A. L. Bruel.
2864W Mutations in YY1AP1 cause fibromuscular dysplasia in patients with Grange syndrome. D. Guo.
2880T Investigating the genetic architecture of Congenital Hypothyroidism using next-generation sequencing. E. Goncalves-Serra.
2865T‡ Mutation spectrum in a Pulmonary Arterial Hypertension (PAH) cohort and identification of associated truncating mutations in TBX4. C. GonzagaJauregui.
2881F‡ De novo mutations in the eukaryotic translation elongation factor, EEF1A2 cause epileptic encephalopathy. G. L. Carvill.
2866F Whole genome sequencing of cytogenetically balanced germline chromosomal rearrangements identify gene disruptions in both phenotypically normal and clinically affected individuals. A. Lindstrand.
2882W‡ A missense variant in KRT25 causes autosomal recessive woolly hair. M. Ansar. 2883T De Novo Variants in GABBR2 Associated with Developmental Delay, Hypotonia, and Cyanosis. N. J. Boczek.
‡ Indicates Reviewers’ Choice Abstract The author listed is the first/presenting author that submitted the abstract. The letter following each poster number indicates the day that authors will be present at their posters. W=Wednesday; T=Thursday; F=Friday. Taking photographs or recording posters is strictly prohibited if the author has displayed the no photography symbol. You agreed to adhere to this policy when registering.
POSTER SESSIONS
2851F‡ The UK 100,000 Genomes Project. K. Smith.
2867W‡ Combined targeted sequencing and array CGH of ciliary genes reveals increased mutational load in Bardet-Biedl syndrome and identifies CEP76 as a novel driver of BBS. M. Kousi.
182 POSTER SESSIONS 2884F Compound heterozygous loss of function variants in the signaling transducer GNB5 in two sisters with severe hypotonia and hyporeflexia, cognitive deficit and epilepsy. P. De Nittis.
2900W A Novel OFD1 Missense Mutation Causes an Autosomal Recessive Dyskeratosis CongenitaLike Disorder Further Complicating the Clinical Heterogeneity of OFD1 Mutations. H. Shaath.
2885W Identification of New Genes and Pathways for Rare Infantile Forms of Myopathies and Neuromuscular Disorders. J. M. Hunter.
2901T The Contribution of Mutations in SyndromeCausing Genes to Non-Syndromic Retinitis Pigmentosa. M. Xu.
2886T A comprehensive genomic analysis reveals the genetic landscape of mitochondrial respiratory chain complex deficiencies. M. Kohda.
2902F A truncating mutation in CLMN is associated with intellectual disability. A. Alkhateeb.
2887F Genetic analysis of autosomal recessive primary microcephaly in Indian population. A. Kumar. 2888W Description of a male with Microphthalmia Syndromic 2 and a rare BCOR missense variant. A. L. Pilla. 2889T Whole exome sequencing analysis of intracranial aneurysm in multiplex families. A. Powell. 2890F Molecular genetic studies of the oculocutaneous albinism phenotype in the Pakistani population. M. Shahzad. 2891W‡ Systematic evaluation of patients with idiopathic short stature using whole exome sequencing. C. T. Thiel. 2892T Expansion of the Troyer Syndrome phenotype by discovery of mutations in Turkish families. H. Unal Gulsuner. 2893F Genetic characterization of childhood-onset cardiomyopathies in the Finnish population. C. Vasilescu. 2894W Genetic and functional studies of MC1R alleles associated with hypopigmentation phenotype in human. S. Yousaf. 2895T Compound heterozygous mutations leading to loss of JAK2 function cause an immune dysregulatory syndrome. X. Yu. 2896F Novel and previously reported mutations in MSX1 gene in three Mexican families with nonsyndromic dental agenesis. E. A. Ramirez-Ramirez. 2897W Achieving genetic diagnosis in families with enlarged vestibular aqueduct using massively parallel sequencing. C. C. Wu. 2898T Introduction of an effective gene-panel for DNA diagnosis of epidermolysis bullosa and skin fragility. H. H. Lemmink. 2899F Clinical and genetic analysis of Wiedemann– Steiner syndrome caused by KMT2A mutations. N. Miyake.
2903W An Integrative Approach to Characterizing Human Diseases and Identifying Human Disease Genes. A. Chhibber. 2904T Progressive encephalopathies in children: Clinical and molecular characterization. E. Frengen. 2905F Canine disorders as models for corresponding human conditions - new mutations and aspects of rare diseases. M. K. Hytönen. 2906W A point mutation in PDGFRB causes autosomal dominant Penttinen syndrome. J. J. Johnston. 2907T The mutation spectrum of a large Brazilian inherited retinal disease cohort. E. M. Jones. 2908F A PPP1R21 Frame-Shift Insertion Mutation Causes a Novel Autosomal Recessive NeuroDevelopmental Disorder. M. Kambouris. 2909W A New Retinits Pigmentosa Gene Identified by Homozygosity Mapping and Whole Genome Sequencing. N. H. Wang. 2910T‡ De novo heterozygous GMNN mutations cause autosomal dominant primordial dwarfism associated with Meier-Gorlin syndrome. Y. Yang. 2911F Mutation spectrum of autosomal recessive retinitis pegmentosa patients of India identified by whole exome sequencing. X. J. Zhu. 2912W The INVESTICATE project: Identification of New Variation, Establishment of Stem cells, and Tissue Collection Aimed at Treatment Efforts. L. Crapper. 2913T HERC1: A possible new candidate gene for intellectual disability. A. Das Bhowmik. 2914F De novo mutations in KAT6A identified by whole exome sequencing cause a neurodevelopmental disorder with syndromic features. F. Millan. 2915W A founder mutation in C12orf4 gene: A candidate gene for autosomal recessive nonsyndromic intellectual disability (NSID). A. K. Philips. 2916T Analysis of a cohort of Polish patients with X linked intellectual disability by the targeted X chromosome exome sequencing (NGS). S. O. Rzońca.
‡ Indicates Reviewers’ Choice Abstract The author listed is the first/presenting author that submitted the abstract. The letter following each poster number indicates the day that authors will be present at their posters. W=Wednesday; T=Thursday; F=Friday. Taking photographs or recording posters is strictly prohibited if the author has displayed the no photography symbol. You agreed to adhere to this policy when registering.
POSTER SESSIONS 183 2917F DCHS2, a novel autosomal recessive cause of Van Maldergem Syndrome. N. Voisin.
2919T CFTR mutations in Chinese: Recurrent and novel mutations in cystic fibrosis. Y. Liu. 2920F Non-coding variants segregate with disease in South African families with keratolytic winter erythema (KWE). T. Ngcungcu. 2921W Mutations in STAC3, the gene responsible for Native American Myopathy, are not responsible for the phenotypically similar Carey-Fineman-Ziter syndrome. S. M. Robbins. 2922T‡ Sequential sequencing approach elucidates high proportion of monogenic obesity cases in a consanguineous population. S. Saeed. 2923F A loss-of-function mutation in JAK1 is associated with epidermodysplasia verruciformis. R. Wang. 2924W The molecular anatomy of multiple Noonan Syndrome PTPN11 mutations in the testes of normal men using deep sequencing. J. Eboreime. 2925T Identification of 4 novel mutations in a cohort of tuberous sclerosis patients from Russia. L. I. Shagam. 2926F Mutation spectrum in a cohort of patients with ABCA4-related retinal dystrophies. Y. Xie.
2934T Impact of whole exome sequencing on identification of disease causing mutations among Iranian patients with Autosomal Recessive Retinitis Pigmentosa. M. Beheshtian. 2935F Modifiers genes in metabolic pathway modulate the severity of Incontinentia Pigmenti phenotype. F. Fusco. 2936W A novel missense mutation in NLRC4 gene causes an autoinflammatory disorder associated with hypercytokinemia, chronic meningitis and hearing impairment. H. Oda. 2937T Changes in red blood cell membrane structure in G6PD deficiency and thalassemia: an atomic force microscopy study. W. Jiang. 2938F From the Bcl-2-deficient mice to the human phenotype : an uncomplete demonstration requiring data sharing. L. Duplomb-Jego. 2939W A potential founder variant in RLTPR in 3 Norwegian families with warts, molluscs and T cell dysfunction. H. Sorte. 2940T Mendelian genomics approach identifies novel disease causal genes for human immunological disorders. Y. Zhang.
2927W Exome sequence analysis suggests genetic burden contributes to phenotypic variability and complex neuropathy. T. Harel.
2941F Frequency and effect of -thalassemia mutations on the hematological phenotype in Mexican Mestizo patients with -thalassemia. L.delC. Rizo de la Torre.
2928T Identification of a 2nd family with a MYH14 p.Arg941Leu mutation confirms MYH14 as a gene causing Charcot-Marie-Tooth neuropathy and hearing loss. C. S. Smith.
2942W Molecular analysis of a novel mutation (CD16 GGC→GGT) in the exon 1 region of the human -globin gene, associated with an unexpectedly severe thalassemia intermedia phenotype. F. Taghavifar.
2929F Mutations in phosphatidylinositol 4-kinase-beta cause autosomal-dominant non-syndromic hearing loss. M. Gong.
2943T Uncovering the etiology of ICF syndrome: New disease genes and functional insight in the molecular processes underlying the immunodeficiency. S. M. van der Maarel.
2930W A dominant Limb Girdle Muscular Dystrophy with severe respiratory involvement; HNRNPLD as the new player. S. E. Lipinski. 2931T‡ Beyond the exome: Improving genetic diagnoses in Mendelian disease with whole genome and RNA sequencing. B. B. Cummings. 2932F Deciphering of a rare autosomal recessive type of Osteogenesis Imperfecta (OI) in an Iranian family by Next Generation Sequencing (NGS). G. Shariati.
2944F Carriers of the complex allele HFE c.[187C>G;340+4T>C] have increased risk of iron overload in São Miguel Island population (Azores, Portugal). L. Mota-Vieira. 2945W Coordinated regulation of splicing events within SLC12A3 and implications to Gitelman Syndrome. C. Mercado. 2946T Novel defects of FOG2/ZFPM2 including 3.2 Mb deletion lead to isolated 46, XY disorders of sex development and 46, XX ovarian dysfunction. D. Baetens.
‡ Indicates Reviewers’ Choice Abstract The author listed is the first/presenting author that submitted the abstract. The letter following each poster number indicates the day that authors will be present at their posters. W=Wednesday; T=Thursday; F=Friday. Taking photographs or recording posters is strictly prohibited if the author has displayed the no photography symbol. You agreed to adhere to this policy when registering.
POSTER SESSIONS
2918W Disease gene discovery in familial amyotrophic lateral sclerosis. J. A. Fifita.
2933W Computational approach improves identification of RPGR ORF15 mutations for inherited retinal disease patients by next-generation sequencing. Z. Ge.
184 POSTER SESSIONS 2947F Phenotypic interaction between GH-releasing hormone (GHRH) receptor mutation detected by exome sequencing and non-classical congenital adrenal hyperplasia. I. Arnhold. 2948W Phenotypic spectrum from cerebral midline defects to hypopituitarism: Examples from HESX1 mutations. Q. Fang. 2949T Germline mutations identification in familial isolated prolactinoma through whole-exome sequencing. F. Melo. 2950F Examining the genetics of hereditary pancreatitis (HP) in adult patients with chronic pancreatitis. H. Azimi. 2951W‡ Quantitative missense mutation profiling points to the root of phenotypic variability in Autosomal Dominant Polycystic Kidney Disease (ADPKD). V. G. Gainullin. 2952T Enzymatic properties of mouse chitotriosidase expressed in Escherichia coli. M. Kimura. 2953F Expression and characterization of catalytic domain of mouse AMCase in Escherichia coli . F. Oyama. 2954W A partially inactivating mutation in the sodiumdependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome. V. Alakbarzade.
2962F Learning pathophysiology of Alport syndrome from RNA-seq of podocytes differentiated from amniotic-fluid derived patient progenitors. A. M. Pinto. 2963W Genotype-dependent alterations in TGFβ signaling in ELN-related cutis laxa. S. Alkan. 2964T Knockout of RP2 decreases GRK1 and rod transducin subunits and leads to photoreceptor degeneration in zebrafish. M. Liu. 2965F The p.E229K variant in CYP1B1: mutation or polymorphism? G. Chavarria-Soley. 2966W The miR-34c is upregulated in 1-antitrypsin deficient livers, induces -catenin activation and impairs liver zonation. P. Piccolo. 2967T Unique case of congenital diarrheal disorder with very short transit associated compound heterozygous variants of unknown significance in a gene related to myosin stability and function, UNC45A. A. Bourchany. 2968F The role of Filamin A in gastrointestinal developmental defects. M. M. Alves. 2969W Identification of de novo mutations in very early-onset inflammatory bowel disease (VEO-IBD). N. Dawany. 2970T Clinical spectrum of disease associated with POLG mutations. P. Arumugam.
2955T Transforming growth factor beta receptor stability and signaling in LTBP4-related cutis laxa. Z. Urban.
2971F CCG•CGG interruptions within CTG•CAG expansion mutation increase disease penetrance in SCA8. B. A. Perez.
2956F The spectrum of NOTCH1 mutations in Adams-Oliver syndrome highlights an important role for the ligand-binding domain in disease etiology. L. Southgate.
2972W Complete APTX deletion in a patient with ataxia with oculomotor apraxia type 1. A. M. W. van den Ouweland.
2957W Mutations in human homologue of chicken talpid-3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Joubert and Jeune syndromes. M. Gunay-Aygun. 2958T N-linked glycosylation in renal and cardiac diseases: The role of ALG13 short isoform 2. T. Esposito. 2959F ASXL3 regulates H2A deubiqutination and gene transcription in Bainbridge-Ropers syndrome. S. Bielas. 2960W Identification of the molecular pathways affected by mutations in the lysine acetyltransferase, KAT6A and associations with phenotypic variability. V. A. Arboleda. 2961T Autosomal recessive Ehlers Danlos Syndrome in three patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. A. Perritt.
2973T Novel Mutation Identified in the SCN1A (Channelopathy) Gene Associated with Acute Onset Ataxia, Dystonia, and Afebrile Seizures. M. Walke. 2974F Severe Optic Nerve and Chiasm Hypoplasia, Blindness, Autism and Cognitive Handicap Associated with BMP4 Mutation. P. Bitoun. 2975W A study of the role of the FOXP2 and CNTNAP2 genes in persistent developmental stuttering. T. Han. 2976T Cell adhesion and migration defects in severe myopia associated with retinal dystrophy and cystic cerebellar dysplasia due to biallelic LAMA1 mutations. M. C. Malicdan. 2977F Identification of homozygous mutations in the CHRNG genes by whole exome sequencing in siblings presented with congenital arthrogryposis multiplex. G.-H. Kim.
‡ Indicates Reviewers’ Choice Abstract The author listed is the first/presenting author that submitted the abstract. The letter following each poster number indicates the day that authors will be present at their posters. W=Wednesday; T=Thursday; F=Friday. Taking photographs or recording posters is strictly prohibited if the author has displayed the no photography symbol. You agreed to adhere to this policy when registering.
POSTER SESSIONS 185 2993W Identification and functional characterization of de novo FOXP1 variants in cases of autism, intellectual disability and language impairment. E. Sollis.
2979T Novel autosomal recessive intellectual disability syndrome with manganese deficiency, muscular hypotonia, and cerebellar atrophy caused by mutation of the SLC39A8 transporter. R. Abou Jamra.
2994T Two patients diagnosed with BPAN in infancy. K. Takano.
2980F Increased STAG2 Dosage Defines a Novel Cohesinopathy with Intellectual Disability and Behavioural Problems. J. Gecz. 2981W Contribution of Copy Number Variation to the Genetic Etiology of Duane Retraction Syndrome. V. K. Robson. 2982T NAA10 missense mutations cause neurodevelopmental delay in eight female patients. C. Saunier.
2995F Comprehensive molecular diagnosis of 265 individuals addressed for Leber congenital amaurosis or Early Onset Severe Retinal Dystrophy using targeted next generation sequencing. I. Perrault. 2996W Molecular analysis and prevalence of Huntington’s Disease in northwest of Iran. M. Shekari Khaniani. 2997T Evidence that variants in PIGG cause intellectual disability with early onset seizures and hypotonia. P. Makrythanasis.
2983F Characterization of SCN8A mutations and phenotypes in comparison to SCN1A. D. Chen.
2998F Contribution of excitatory/inhibitory synaptic imbalance to MECP2, CDKL5 and FOXG1 related disorders. E. Landucci.
2984W Whole exome sequencing identified a splice site mutation in ARV1 in a consanguineous family with intellectual disability, epilepsy and neurodegeneration. Y. Guo.
2999W Functional characterization of a large series of NKX2-1 variants in Brain-Lung-Thyroid syndrome reveals diverse molecular mechanisms of disorder. S. A. Graham.
2985T TUBGCP4, encoding a member of the γ-tubulin ring complex γTuRC, is a novel gene for autosomal recessive microcephaly with chorioretinopathy (MCMR). H. J. Dollfus.
3000T Pontine Tegmental Cap Dysplasia: a rare hindbrain malformation and the search of the genetic etiology. M. Herlin.
2986F A nonsense C12orf65 mutation in Indian-Jewish monozygotic female twins with Leigh syndrome. E. Imagawa. 2987W Linkage mapping and exome sequencing identifies a novel genetic cause of Charcot-MarieTooth neuropathy with pyramidal signs. M. L. Kennerson. 2988T Splicing of a 46bp sequence from central inton 9 of human FMR1 gene results in a truncted FRMP peptide with altered subcellular distribution and different functions when overexpressed. F. Lan. 2989F SOX10 Regulates an Alternative Promoter at the Charcot-Marie-Tooth Disease Locus MTMR2: Implications for a Nuclear Function in Schwann Cells. E. A. Fogarty. 2990W Inheritance of repeat interruptions in spinocerebellar ataxia type 10 (SCA10) expansions. K. N. McFarland. 2991T Rare Variant Identification in Saudi Children with Mendelian Neurologic Diseases. W. Charng. 2992F X-linked intellectual disability related genes disrupted by balanced X-autosome translocations. M. Moyses-Oliveira.
3001F Loss of function variants highlight potential candidate genes in patients with brain malformation and epilepsy. E. Karaca. 3002W DYT16/PRKRA founder mutation causes childhood-onset generalized dystonia in a family from Southern Italy. M. Quadri. 3003T Expanding the Phenotype of Type XII Collagen Myopathy: Congenital Cataracts, Microcephaly, and Global Developmental Delay? G. E. Tiller. 3004F Somatic Mutations in mTOR and Tau pathways in Focal Cortical Dysplasia. F. Torres. 3005W Clinical and Genetic Analysis of 87 Chinese Patients with Pelizaeus-Merzbacher Disease. J. Wang. 3006T Systematic phenotype-based deconvolution of intellectual disability disorders into biologically coherent modules. C. Zweier. 3007F‡ Synergistic activity of the DYT6-associated THAP1 protein and HCFC1 in regulating gene expression. L. Kötter. 3008W FOXC1 mutations and copy number variants in cases diagnosed with Primary Congenital Glaucoma. E. Souzeau.
‡ Indicates Reviewers’ Choice Abstract The author listed is the first/presenting author that submitted the abstract. The letter following each poster number indicates the day that authors will be present at their posters. W=Wednesday; T=Thursday; F=Friday. Taking photographs or recording posters is strictly prohibited if the author has displayed the no photography symbol. You agreed to adhere to this policy when registering.
POSTER SESSIONS
2978W A family with Joubert and Meckel-Gruber Syndrome phenotypes associated with TMEM231 mutations. D. Maglic.
186 POSTER SESSIONS 3009T Whole exome sequencing of family trios identifies novel genes in children with Rett syndrome (RTT) phenotype. S. Rangasamy. 3010F TMEM38B/TRIC-B deficiency causes an Osteogenesis imperfecta-like bone dysplasia by dysregulation of ER calcium homeostasis and collagen biosynthesis. W. A. Cabral. 3011W Whole-Exome Sequencing Reveals Novel Gene Implicated in Multiple Epiphyseal Dysplasia and Primary Osteoarthritis. M. Czarny-Ratajczak. 3012T Bone Robusticity in Two Distinct Skeletal Dysplasias: an Evaluation of the Second Metacarpal, a Surrogate for Bone Strength. J. Marino. 3013F Variants in ACTC1 cause distal arthrogryposis: a new skeletal muscle phenotype for a cardiac muscle gene. C. T. Marvin. 3014W Analysis of a broad spectrum of mutations in the EXT1 and EXT2 genes in Brazilian patients with multiple osteochondromas. S. C. L. Santos. 3015T Novel FKBP10 mutation induces osteogenesis imperfecta type XI . S. Seyedhassani. 3016F Mutations spectrum of COL1A1/COL1A2 in Chinese with osteogenesis imperfecta. X. Zhao. 3017W Mutations in MYLPF cause a novel segmental amyoplasia manifest as distal arthrogryposis. K. M. Shively. 3018T Skeletal ciliopathies: A molecular study of 17 patients with Short-Rib Thoracic Dysplasia (SRTD). A. Hammarsjö. 3019F Molecular analysis of 24 Ellis van Creveld syndrome (EVC) individuals using targeted Next Generation Sequencing (NGS) and array CGH technology. C. Huber. 3020W SEC24D causes non-syndromic autosomal recessive osteogenesis imperfecta. S. Moosa.
3025F Recurrent de novo mutations affecting residue p.Arg138 of pyrroline-5-carboxylate synthase cause a novel progeroid form of autosomal dominant cutis laxa. B. L. Callewaert.
Genome structure, variation, and function 3026T Single cell allele specific expression (ASE) in T21 and common trisomies: a novel approach to understand Down syndrome and common aneuploidies. G. Stamoulis. 3027F Investigation of Variants of Uncertain Significance Identified Through Exome Sequencing in 46,XY Disorders of Sex Development Using the C57BL/6J-YPOS Mouse Model. H. Barseghyan. 3028T The APOE Locus and MicroRNA in Alzheimer’s Disease. L. Bekris. 3029F A new method for the functional analysis of regulatory SNPs. H. Guillen Ahlers. 3030T Sequence variation affecting transcription factor occupancy in highly diverged mouse strains. M. T. Maurano. 3031F A high-throughput functional screening identifies non-canonical cis-regulatory sequences in the OCT4 Locus. Y. Shen. 3032T‡ Genetic architecture of gene expression regulation via orthogonal tissue decomposition. H. E. Wheeler. 3033F Identifying compound heterozygous variants associated with gene expression. R. Brown. 3034T 2p15-p16.1 microdeletions encompassing and proximal to BCL11A are associated with elevated HbF in addition to neurologic impairment. A. P. W. Funnell. 3035F‡ Functional footprinting of regulatory DNA. J. Vierstra.
3021T Tissue specific mosaicism for a lethal COL1A1 mutation causes mild Ehlers-Danlos syndrome. S. Symoens.
3036T Deciphering the control of HLA-C expression using the 1000 genomes dataset. N. Vince.
3022F Order of intron splicing is an important determinant of variant splice outcome in COL1A1. J. Schleit.
3037F A large genomic deletion leads to enhancer adoption by the Lamin b1 gene: A second path to autosomal dominant leukodystrophy (ADLD). E. Giorgio.
3023W Keratoconus (KC) is an eye disorder in which the cornea is swollen, thinned and deformed. f. Azadegan Dehkordi.
3038T Analysis of transcriptional regulation by Dentatorubral-Pallidoluysian Atrophy protein (DRPLAp) that acts as transcriptional co-regulator. K. Hatano.
3024T Mutation screening and in-depth bioinformatic analyses of the cathepsin C gene in an Indian family with Papillon-Lefevre syndrome. M. Raveendrababu.
3039F SMC1B is present in mammalian somatic cells and interacts with mitotic cohesin proteins. A. Musio.
‡ Indicates Reviewers’ Choice Abstract The author listed is the first/presenting author that submitted the abstract. The letter following each poster number indicates the day that authors will be present at their posters. W=Wednesday; T=Thursday; F=Friday. Taking photographs or recording posters is strictly prohibited if the author has displayed the no photography symbol. You agreed to adhere to this policy when registering.
POSTER SESSIONS 187
3041F Post-GWAS identification of a PRSS1 promoter variant protecting against pancreatitis. A. Boulling. 3042T Understanding the regulatory network of chromosome 21 transcription factors. A. Letourneau. 3043F‡ Developmental expression patterns and alternate splicing of human transcription factors. K. Siebenthall. 3044T Genetic and epigenetic signatures of gene regulation specific to type 2 diabetes-relevant tissues. J. P. Didion. 3045F Polymorphic Alu insertions with functional consequences may be the causative variant identified in GWAS. L. Horvath. 3046T Characterization of a Sjögren’s syndromeassociated long non-coding RNA at 2p25.1. J. A. Ice. 3047F Using miRNA expression profiling and sparse machine learning methods for diagnostics of inflammatory bowel disease. M. Huebenthal. 3048T Identification of novel lincRNAs in human adipose and peripheral blood mononuclear cells. C. Xue. 3049F Differential expression of microRNAs in breast cancer tumors associated to lymph node metastasis. E. Pérez-Moreno. 3050T microRNA expression profiling in breast cancer tumors associated to BRCA1 expression. V. A. Zavala. 3051F Genetic variations within microRNAs and microRNA binding sites influence the risk of Parkinson’s disease. M. Ghanbari. 3052T Non-coding RNA dysregulation in schizophrenia patients observed in the amygdala region based on RNA-sequencing. Y. Liu. 3053F MicroRNAs signature in PBMCs from firsttreated tuberculosis patients in western China and their potential diagnostic role. M. Shang. 3054T Elucidating the role of miR-29a in fibroproliferative diseases. T. J. Creamer. 3055F Difference in plasma circulating free microRNAs between young and aged mice: A possible contribution of miR-1 on myogenic differentiation under a low temperature condition. M. Fukuoka. 3056T Genomic variation of mouse microRNAs. I. Hovatta.
3057F Mitochondrial miRNA profile in mtDNA-less cells. R. Li. 3058T DASHR - Database of small human non-coding RNA. Y. Y. Leung. 3059F Non-coding transcriptome of the developing mammalian retinal photoreceptors. L. Zelinger. 3060T Uncovering the mechanisms and the genetics of enhancer transcription activities via population-scale sequencing of nascent RNAs. H. Kwak. 3061F The identification of carboxy-terminal frameshift mutations and their role in human disease. J. White. 3062T Spatial and temporal dynamics of epitranscriptome in normal neurodevelopment and fragile X syndrome. F. Zhang. 3063F Identification and characterization of genetic determinants of RNA editing in humans. Y. Z. Kurmangaliyev. 3064T MTO1 inhibition impairs mitochondrial and cellular function in human cell lines. C. Chen. 3065F Analysis of RNA editing in non-human primates. M. Bozinoski. 3066T Alternative promoter usage in STK39 leads to distinct transcripts with human-specific 5’UTRs but identical protein isoforms as in mice. Y. Chang. 3067F Exploration of RNA editing sites in human retina and retinal pigment epithelium-choroid-sclera. D. Cho. 3068T Global binding map of the splicing regulatory factor SRSF5. G. H. Bruun. 3069F‡ Sex Chromosome Dosage and the Human Transcriptome: A Study of XO, XX, XXX, XY, XXY, XYY and XXYY Karyotypes. A. Raznahan. 3070T Transcriptional consequences of 2q23.1 deletion syndrome in iPSC-derived neural progenitor cells provide insight into neurodevelopmental disorders and autism. S. V. Mullegama. 3071F Gene expression analysis of chitinase-like protein, YKL-40, with mammalian chitinases using qPCR in normal human tissues. M. Ohno. 3072T Positional coding and noncoding transcriptomes of synovial fibroblasts in joint specific patterns of arthritis. G. Russo. 3073F Systematic identification of cancer-testis genes in 20 cancer types: a source of epi-driver genes. Z. Hu. 3074T‡ Genome specific transcriptional signatures predict differentiation biases in human ES/IPS cells. G. Stein-O’Brien.
‡ Indicates Reviewers’ Choice Abstract The author listed is the first/presenting author that submitted the abstract. The letter following each poster number indicates the day that authors will be present at their posters. W=Wednesday; T=Thursday; F=Friday. Taking photographs or recording posters is strictly prohibited if the author has displayed the no photography symbol. You agreed to adhere to this policy when registering.
POSTER SESSIONS
3040T Motif/Transcription factor prediction of brain expressed HERV-derived transcripts reveals enrichment of biological signature of transcriptional regulation. G. Guffanti.
188 POSTER SESSIONS 3075F RNAseq based microRNA and transcriptome profiles of the rat hippocampus. A. Matos. 3076T Integrative analysis of RNA, translation and protein levels reveals distinct regulatory variation across humans. C. Cenik. 3077F Comparison of gene expression biomarker classifiers developed for use as an Alopecia Areata Disease Activity Index (ALADIN). J. E. Cerise. 3078T Method to Delineate and Confirm Genetically Distinct Cell Populations from Mosaic Individual Shows Differential Expression Related to Disease Pathway. C. M. Grochowski. 3079F Proteomic profile of dorsal and ventral dentate gyrus of a rat epilepsy model induced by electrical stimulation and displaying classical hippocampal sclerosis. A. Morato do Canto. 3080T RNAseq reveals distinct transcriptomic profiles of diverse cell populations within human skin. R. Ahn. 3081F NGS Library Preparation Method for Transcriptome Profiling With Enhanced Sensitivity of Transcript Detection. D. Rodriguez. 3082T Longevity and the transcriptome: Identifying gene expression changes in long-lived individuals. K. A. Mather. 3083F RNA-sequencing reveals novel candidate genes for Ring chromosome 20 syndrome. D. A. McEldrew. 3084T Global Gene Expression Profiling during Pregnancy. A. Mittal. 3085F Transcriptome analysis of CD4+ T cells in coeliac disease. C. Coleman. 3086T Transcriptomic analyses reveal sex-dependent expression differences in hundreds of genes and show an upregulation of immune response genes in women. A. Joensuu. 3087F Gene expression of PTK2B in peripheral blood is associated with cortical thickness in Alzheimer’s disease. K. Nho. 3088T Dissection of Gene Expression Signatures of Recurrent Acute Pancreatitis Risk in Extreme Hypertriglyceridemia. K. Tremblay. 3089F Impact of Genetic Variation on upstream Open Reading Frame (uORF) Translation and Differential Gene Expression in Human Populations. Y. Wang. 3090T‡ PennDiff: Detecting differential alternative splicing from RNA-Seq data. Y. Hu.
3091F Mesenchymal stem cells of patients with multiple myeloma have different epigenetic characteristics compared to normal bone marrow stem cells. m. noruzinia. 3092T Transcriptome profiling of hypoxia tolerant heterozygous EdnrB mice reveals genes associated with cardiac contractility. T. Stobdan. 3093F The microbiota and interleukin-10 modulate the chromatin landscape and transcription in lamina propria macrophages and experimental colitis. J. M. Simon. 3094T Single-cell RNA-seq on pancreatic islets of Langerhans reveals different heterogeneity between non-diabetic and diabetic individuals. M. Garieri. 3095F‡ Ultraconserved elements populate genomic regions disrupted in both cancers and neurodevelopmental disorders. R. B. McCole. 3096T Human umbilical vein endothelial cells response to shRNA-mediated knock down of ITPA gene in presence of nitric oxide. z. Abedi. 3097F Stimulating human CD4+ memory T cells uncovers cell state-dependent allelic expression enriched in risk genes for rheumatoid arthritis. M. Gutierrez-Arcelus. 3098T‡ Elucidating the gene regulatory mechanisms that control the acute phase response using comparative genomics. M. Liang. 3099F Transcriptional and genetic regulatory response to anti-IL-6 treatment in system lupus erythematosus. E. E. Davenport. 3100T Aminoglycosides stress together with the mitochondria 12S rRNA 1494C>T mutation leads to mitophagy. J. Yu. 3101F RNA-sequencing in the DLPFC of schizophrenia patients and controls identifies novel differentially expressed transcripts originated in transposons. F. Macciardi. 3102T Senp1: A Genetic Driver of Hypoxia-Induced Polycythemia. P. Azad. 3103F Effects of hematopoietic stem cell transplant (HSCT) on the oral microbiome of patients with severe aplastic anemia. N. Ames. 3104T Analysis of mucosal adherent 16S rRNA reveals altered microbial composition and decreased diversity in patients with Crohn’s disease. N. M. Shahir. 3105F Role of Environment and Diet on Microbiome Composition in Diverse Rural Africans. M. A. Rubel.
‡ Indicates Reviewers’ Choice Abstract The author listed is the first/presenting author that submitted the abstract. The letter following each poster number indicates the day that authors will be present at their posters. W=Wednesday; T=Thursday; F=Friday. Taking photographs or recording posters is strictly prohibited if the author has displayed the no photography symbol. You agreed to adhere to this policy when registering.
POSTER SESSIONS 189 3123F Whole-exome sequencing identifies a novel 2.5 kb duplication in INSR in a patient with Donohue syndrome. M. Schotik.
3107F Rapid growth between birth and two years is associated with lower diversity in oral and gut microbiomes. S. J. C. Craig.
3124T Copy number variation in early-onset Alzheimer’s disease. M. N. Bamne.
3108T 3D-NOME: an integrated 3-Dimensional NucleOme Modeling Engine for data-driven simulation of spatial genome organization. D. Plewczynski. 3109F‡ In vitro and in vivo exploration of regulatory variation in melanocytes. M. B. Baker. 3110T Massive parallel sequencing revealed the conformational dynamics of the non-B form DNA at the promoter. H. Inagaki. 3111F Translational correlation of MeCP2 binding dynamics and clinical presentation of male patients with missense mutations. T. I. Sheikh. 3112T‡ Topoisomerase II beta interacts with Ctcf and the cohesin complex at evolutionarily conserved points of genome control. L. Uusküla-Reimand. 3113F Reconstructing A/B compartments as revealed by Hi-C using long-range correlations in epigenetic data. K. D. Hansen. 3114T High Quality Next-Generation Sequencing Libraries for Sub-Nanogram Amounts of ChIP DNA. C. Couture. 3115F Whole genome sequencing identifies complex and balanced de novo structural variation in autism. D. Antaki. 3116T The copy number variation (CNV) database for autism spectrum disorder (ASD). X. Liu. 3117F‡ Building a dosage map of the genome to assist in CNV interpretation. A. E. Hare. 3118T Mapping the “Dark Matter” of the Genome: Complex Structural Variations and Towards True Contiguity of de novo Assembly with NanoChannel Technology. H. Cao. 3119F Characterization of Common Maternal Copy Number Variations observed in Non-Invasive Prenatal Testing. Y. Sun. 3120T Copy Number Variation Associated With Bronchopulmonary Dysplasia. A. Ahmad.
3125F Copy number variant frequency and genomic diversity in the Danish population. M. Bertalan. 3126T DNA replication dynamics and its role in CNV instability. L. Chen. 3127F Identification of copy number variation in the genome of Japanese population. I. Danjoh. 3128T Copy Number Variation in Cynomolgus monkeys linked to tissue specific gene expression. A. R. Gschwind. 3129F High-Throughput Screening for Rare Copy Number Variants across a ~45,000 Subject Pediatric Biobank by qPCR. C. Kao. 3130T Phenome-wide Copy Number Burden Association on a Range of Phenotypes in 10,000 Participants from the eMERGE Network. D. Kim. 3131F Structural variation at the glycophorin locus from genome sequencing of Gambian trios. E. M. Leffler. 3132T Effects of copy number variable regions on the transcriptome and phenotypic variation in Finnish population-based cohorts. H. Mattsson. 3133F Detecting copy number variations by analyzing whole exome sequencing data using the eXome Hidden Markov Model. S. Miyatake. 3134T Understanding the genetic structure of FCGR genes region for Kawasaki disease using sequence capture of target fragments for long reads sequencing. E. Png. 3135F Genic intolerance to copy number variation in 60,000 individuals and applications to identifying risk genes in schizophrenia. D. Ruderfer. 3136T Complex structural variation in the MHC locus influences schizophrenia risk by shaping expression of complement component 4. A. Sekar. 3137F‡ Copy number variant conferred risk of mental disorders in the Danish population. T. Sparsø.
3121F SMN2 copy number frequency in a sample of the Brazilian Population. M. Goncalves.
3138T‡ Comprehensive comparative performance analysis of high-resolution array platforms for genome-wide CNV detection in humans. A. Urban.
3122T Characterization of NAHR-mediated type-1 NF1 deletions with breakpoints within the PRS2 hotspot. H. Kehrer-Sawatzki.
3139F A single rearrangement event resulting in two concomitant genomic disorders: the PMP22-RAI1 contiguous gene duplication syndrome. B. Yuan.
‡ Indicates Reviewers’ Choice Abstract The author listed is the first/presenting author that submitted the abstract. The letter following each poster number indicates the day that authors will be present at their posters. W=Wednesday; T=Thursday; F=Friday. Taking photographs or recording posters is strictly prohibited if the author has displayed the no photography symbol. You agreed to adhere to this policy when registering.
POSTER SESSIONS
3106T ABO antigen and secretor status are not associated with gut microbiota composition. E. R. Davenport.
190 POSTER SESSIONS 3140T Comprehensive breakpoint analyses for genomic disorders reveal the correlation of CNV size and complexity with clinical severity at the PLP1 locus. L. Zhang. 3141F‡ Correlations between AMY1 copy number, diet and BMI in ethnically diverse African populations. K. E. Johnson. 3142T Customizable exon-centric target enrichment for copy number and targeted mutation detection. K. Jeong. 3143F Modifying DNA extraction protocol alters human brain copy number estimation. C. Proukakis. 3144T De Novo Copy Number Variation in Taiwanese Trios Affected by Schizophrenia. T. Poterba. 3145F‡ Sequence analysis and characterization of active human Alu subfamilies. M. K. Konkel. 3146T Biochemical analysis of chimeric human and mouse AMCase proteins expressed in Escherichia coli. K. Okawa. 3147F Whole Genome Reference Panel of One Thousand Japanese Individuals and Bioinformatics in ToMMo. M. Nagasaki. 3148T EyeSeq - Toward a Comprehensive Genomic Research and Diagnosis Resource for Inherited Retinal Degenerations. L. Shen. 3149F Significance ranking of sequence variants in Parkinson Disease variant database. J. Vance. 3150T‡ Distribution and clinical impact of functional variants in 31,000 whole exome sequences from the DiscovEHR study. F. Dewey. 3151F Analysis of structural variants in 2,200 wholegenome sequenced myocardial infarction cases and controls. E. M. Schmidt. 3152T Structural variants and obesity: Analysis of FTO intron 1 enhancer. S. S. Sundseth. 3153F COL4A3 Mutations Cause Focal Segmental Glomerulosclerosis. L. Hu. 3154T Long single-molecule RNA sequencing detects novel variants in humans. H. Yang. 3155F Survey of Human Cytomegalovirus Gene Polymorphism in Infants Infected Congenitally or Postnatally from Gunagzhou, China. H. Li. 3156T STR-Seq: a next generation technology for massively parallel microsatellite sequencing and genotyping. G. Shin.
3158T Whole genome sequencing of six baboon species reveals high levels of polymorphism including extensive functional variation. M. Raveendran. 3159F‡ Calling mitochondrial DNA (mtDNA) variants from whole exome sequencing data. P. Zhang. 3160T Sequencing and typing of HLA class I genes by using a single-molecule, real-time sequencing technology. Y. Kuroki. 3161F Linking Protein Annotation and Genome Variation in ClinGen Knowledge Base. P. McGarvey. 3162T Somatic mutation analysis in a healthy adult’s blood and sperm. C. Zeng. 3163F The Korean Reference Genome project: construction of the reference panel for imputation analysis. Y. Kim. 3164T Association study of TAF2 with aspirin exacerbated respiratory disease and FEV1 decline. J. Kim. 3165F An integrative computational workflow for eQTL analysis. N. Prodduturi. 3166T Fine-mapping red blood cell traits using eQTL in erythroblasts differentiated ex vivo from CD34+ hematopoietic stem cells. S. Lessard. 3167F Identification of rare and common variants associated with gene expression in a complex Amish pedigree. C. Brown. 3168T‡ Characterizing regulatory variation using a panel of induced pluripotent stem cells. NE. Banovich. 3169F “Buffet-Style” eQTL Discovery: Assessing the Impact of PEER Adjustment on Replicability of Cis and Trans eQTL Associations in Whole Blood. P. J. Castaldi. 3170T Local epistasis between regulatory and coding variants contributes to disease in diverse human tissues. S. E. Castel. 3171F‡ Induced pluripotent stem cells retain patientspecific gene expression patterns largely driven by cis-regulatory variation. G. E. Hoffman. 3172T Dissecting the genetics of the human transcriptome identifies novel trait-related transeQTLs and corroborates the regulatory relevance of non-protein coding loci. H. Kirsten. 3173F The effects of human genetic variation on the gene regulatory cascade. Y. Li. 3174T‡ Quantifying tolerance of genes to cisregulatory variation from allelic expression data. P. Mohammadi.
3157F The importance of heterozygous protein truncating variants in the human genome. A. Telenti. ‡ Indicates Reviewers’ Choice Abstract The author listed is the first/presenting author that submitted the abstract. The letter following each poster number indicates the day that authors will be present at their posters. W=Wednesday; T=Thursday; F=Friday. Taking photographs or recording posters is strictly prohibited if the author has displayed the no photography symbol. You agreed to adhere to this policy when registering.
POSTER SESSIONS 191 3175F Characterizing and mitigating winner’s curse in expression quantitative trait loci (eQTL) studies. G. Darnell.
3193F The dynamics of meiotic recombination initiation in laboratory mouse strains. K. Brick.
3177F Fine mapping of QTLs with heterogeneous subgroups, as illustrated in cross-tissue and crosspopulation eQTL analysis. X. Wen. 3178T Partitioning of genetic variation influencing gene expressoin by chromosome. J. Hall. 3179F Functional partitioning of local and distal gene expression regulation in multiple human tissues. X. Liu. 3180T Characterizing the role of STRs in gene regulation. D. Zielinski. 3181F Rare non-coding variation in a population isolate from Sardinia. M. Pala. 3182T Combining whole genome and RNA sequence data from multiple tissues to map causal eQTL using resampling methods. A. Brown. 3183F Genomic modulators of gene expression in human neutrophils. V. Naranbhai. 3184T‡ Genetic variants affect expression of nearly all genes, but only in a specific context. P. Deelen. 3185F Identifying the effects of postmortem sample collection parameters on RNA-sequencing results across 1,640 samples. D. S. DeLuca. 3186T Rare regulatory variants cause cross-tissue extreme gene expression. X. Li. 3187F Genetic regulation of whole blood gene expression quantified in large families pedigrees. A. Viñuela. 3188T‡ RNA:DNA hybrids and genome instability in post-mitotic neurons. V. Bhatia. 3189F Complex multiple-nucleotide substitution mutations causing human inherited disease reveal novel insights into the action of translesion synthesis DNA polymerases. J. M. Chen. 3190T Breakpoint analysis of 43 patients with complex genomic rearrangements and their mechanisms for formation. G. M. Novo-Filho. 3191F Development of a quantitative targeted RNA-Seq methodology for use in differential gene expression analysis. M. A. Hussong. 3192T A Microfluidic System for Generating Massively Partitioned and Barcoded DNA Sequencing Libraries. M. Schnall-Levin. ‡ Indicates Reviewers’ Choice Abstract The author listed is the first/presenting author that submitted the abstract. The letter following each poster number indicates the day that authors will be present at their posters. W=Wednesday; T=Thursday; F=Friday. Taking photographs or recording posters is strictly prohibited if the author has displayed the no photography symbol. You agreed to adhere to this policy when registering.
POSTER SESSIONS
3176T Predicting tissue-specific gene expression by leveraging the genotype-tissue expression (GTEx) datasets. Z. Qi.
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Target enrichment today, Integrated solutions tomorrow Join us for an informative
NGS Target Enrichment Workshop
where you’ll hear from researchers using our new SeqCap MedExome and other new enrichment solutions for targeted sequencing. Register now at http://go.roche.com/ ASHG2015 to reserve your space for Thursday, October 8, 1:00-2:30 p.m. Baltimore Convention Center Room 343/344, Level 3
For life science research only. Not for use in diagnostic procedures.
Target enrichment today, Integrated solutions tomorrow Visit ASHG Booth 1015
to learn more about our new SeqCap MedExome or current solutions for customized DNA panels, RNA Seq, and epigenetic analysis, as well as information about the future of sequencing at Roche.
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© 2015 Roche 581-61620-0815 Roche Diagnostics Corporation 9115 Hague Road Indianapolis, Indiana 46256
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Drop by booth #2214 and discover how our ultra-sensitive genomics tools are making Complex Genetics Simple. Hear from leading human geneticists about why Millions of Droplets Matter in disease research on Friday, October 9th at 12:45-2:15pm, Room 345/346, Level 3.
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EXHIBITS SERVICE DESK AREA
EXHIBITS AND POSTERS HOURS WEDNESDAY 9:00 am-2:30 pm 4:30-7:00 pm THURSDAY 9:00 am-3:00 pm FRIDAY 9:00 am-2:30 pm
197
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: Wednesday: 9:00 am-2:30 pm; 4:30-7:00 pm Thursday: 9:00 am-3:00 pm Friday: 9:00 am-2:30 pm Products: To assist in locating specific products and services of interest, a product and service index appears on the 2015 meeting website. 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.
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 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.
EXHIBITOR EVENT TRACK Exhibitors also provide attendees with education! Don’t forget to check out the Exhibitor Event Track on the Schedule of Events. Exhibiting companies are offering breakfast and lunch workshop sessions in the convention center and the two connected hotels: the Sheraton and Hilton. Don’t miss their up-to-the-minute tech information and grab a bite to eat at the same time!
EXHIBITORS
= First time exhibitor Shaded = Meeting Supporter
198 EXHIBITORS
EXHIBITORS 10X Genomics............................................... 216 Email:
[email protected] URL: http://10xgenomics.com
Active Motif, Inc.......................................... 2427 Email:
[email protected] URL: http://www.activemotif.com
10X Genomics’ GemCode™ Platform delivers additional genetic information by dramatically upgrading the capabilities of existing short read sequencers. We do this through a combination of elegant microfluidics, chemistry and bioinformatics. Researchers can now find structural variants, haplotypes, and other critical information from 1ng of DNA while leveraging existing workflows.
Active Motif is the industry leader in providing innovative tools to enable epigenetics and gene regulation research. We are committed to providing the highest quality products and services for the scientific, clinical and drug discovery groups and to help researchers simplify integrating epigenetics and gene regulation research into their studies.
23andMe........................................................ 829 Email:
[email protected] URL: http://www.23andme.com 23andMe is the leading personal genetics company dedicated to helping individuals access, understand and benefit from the human genome. Founded in 2006, the vision for 23andMe is to personalize healthcare by making and supporting meaningful discoveries through genetic research. To date, the company has discovered hundreds of novel genetic associations and has published more than 30 papers in peer-reviewed scientific journals. More information is available at www.23andMe.com.
The Scientist............................................... 1607 Email:
[email protected] URL: http://www.the-scientist.com The Scientist is the source for life science professionals, 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 print articles, online stories, and multimedia features, the magazine explores the latest scientific discoveries, trends in research, and innovative techniques and technology.
Abbott Informatics..................................... 1119 Email:
[email protected] URL: http://www.starlims.com Abbott Informatics offers medical laboratories a powerful solution suite, which leverages the cumulative best practices across a wide range of laboratories. Abbott Informatics includes configurable tools to manage complex testing workflows; format and deliver laboratory results to clinicians by their preferred method; manage analyzers, and deliver real-time analytics.
= First time exhibitor Shaded = Meeting Supporter
Adaptive Biotechnologies............................ 825 Email:
[email protected] URL: http://adaptivebiotech.com/ Adaptive Biotechnologies is the leader in combining high-throughput sequencing and expert bioinformatics to profile T-cell and B-cell receptors. Adaptive brings the accuracy and sensitivity of its immunosequencing platform into laboratories around the world driving groundbreaking research in cancer and other immune-mediated diseases. Adaptive is also committed to translating immunosequencing discoveries into clinical diagnostics and therapeutic development to improve patient care.
Advaita Bioinformatics................................. 715 Email:
[email protected] URL: http://www.advaitabio.com Advaita develops bioinformatics tools that bridge the gap between the ability to gather and interpret biological data. Our advanced computational methods empower researchers to understand underlying phenomena at a systems biology level while minimizing false positives. Advaitas applications can combine various omics data to quickly gain deep biological understanding.
Advanced Analytical Technologies, Inc.... 1216 Email:
[email protected] URL: http://www.aati-us.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).
EXHIBITORS 199
Affymetrix, Inc............................................... 901 Email:
[email protected] URL: http://www.affymetrix.com
Ambry Genetics............................................ 801 Email:
[email protected] URL: http://www.ambrygen.com
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.
About Ambry Genetics: Ambry Genetics is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified commercial clinical laboratory with headquarters in Orange County, California. Ambry is a leader in providing genetic services focused on clinical diagnostics and genomic services, and has established a reputation for unparalleled customer satisfaction. To learn more, visit www.ambrygen.com.
Agilent Technologies.................................... 701 Email:
[email protected] URL: http://www.agilent.com/genomics Agilent’s Genomics group is committed to providing an innovative suite of products for genetic analysis. Our market-leading CGH microarrays, NGS target enrichment, mutagenesis, and Bioanalyzer & TapeStation products complement an entire portfolio of solutions, including PCR and qPCR instruments and reagents, gene expression microarrays, as well as design and analysis software.
Aline Biosciences Group............................ 1603 Email:
[email protected] URL: http://alinebiosciences.com ALine Biosciences provides top-notch and costeffective magnetic bead-based solutions for genomic and proteomic applications, including Next Generation DNA/RNA Sequencing library cleanup and normalization, Sanger Sequencing Cleanup, and DNA/RNA extraction kits from plasma/serum, blood, urine, buccal swabs, FFPE and microorganisms for plasmids/cosmids. ALine products have been implemented in highly regulated laboratory environments since 2009.
Alpaqua Engineering, LLC........................... 710 Email:
[email protected] URL: http://www.alpaqua.com
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The American Board of Medical Genetics and Genomics (ABMGG) serves the public and medical profession by promoting and assuring standards of excellence in medical genetics and genomics by accrediting clinical laboratory training programs; credentialing and certifying practitioners of medical genetics and genomics; and fostering life-long learning through the Maintenance of Certification (MOC) program.
American College of Medical Genetics and Genomics.................................................... 1909 Email:
[email protected] URL: http://www.acmg.net The American College of Medical Genetics and Genomics Providing education, laboratory and clinical practice resources, and a voice for the medical genetics profession. Stop by our booth #1909 to learn more about College initiatives, continuing education programs, membership and events. Save $125 on ACMG membership and our annual meeting registration.
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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 a line of innovative, high performance magnet plates containing proprietary spring cushion technology, as well as temperature blocks, SBS tube racks, and Alpillo® microplate holders.
American Board of Medical Genetics and Genomics.................................................... 1907 Email:
[email protected] URL: http://www.abmgg.org
200 EXHIBITORS American Heart Association...................... 2407 Email:
[email protected] URL: http://www.myamericanheart.org
Appistry....................................................... 2126 Email:
[email protected] URL: http://www.appistry.com/
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!
Appistry helps clinical labs, research institutions, and hospitals capitalize on genomics data so that they can practice genomically enhanced medicine. Our world-class bioinformatics tools, cloud services, and software streamline the analysis of next-generation sequencing (NGS) data and make genome-scale data actionable in guiding research projects and informing clinical decisions.
Amicus Therapeutics, Inc.......................... 1806 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-in-class treatments for a broad range of human genetic diseases, with a focus on lysosomal storage diseases.
Analytik Jena............................................... 1924 Email:
[email protected] URL: http://www.uvp.com Analytik Jena life science research products include powerful homogenizer, standard and real-time PCR thermal cyclers, liquid handling systems plus various DNA/RNA purification, isolation and extraction kits, including PME DNA extraction kits. Stop by to see “My Kits-to-Go” with Dual-Chemistry DC-Technology. Products are now available through UVP, LLC in the US.
Andrew Alliance USA................................. 1024 Email:
[email protected] URL: http://www.andrewalliance.com Andrew Alliance manufactures multi-awarded companion robots that provide reliable and convenient alternatives to manual pipetting and complex liquid handling workstations. Our novel product, Andrew, is an automated pipetting robot that uses conventional pipettes. Our software adapts to your needs, manipulates pipettes in an optimal way, and allows you to generate more accurate and reliable data.
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Applied Spectral Imaging, Inc................... 1014 Email:
[email protected] URL: http://www.spectral-imaging.com ASI offers advanced automated solutions for the detection, capture and analysis of regions of interest driving greater efficiencies and increasing throughput and employee productivity. ASI’s products range from interactive digitalization and imaging analysis systems to fully automated solutions, supporting fluorescent, brightfield and spectral image-acquisition, for karyotyping, FISH and pathology tests.
Arraystar Inc............................................... 1723 Email:
[email protected] URL: http://www.arraystar.com Arraystar uses cutting edge science, state of the art microarray and nextgen sequencing technologies, and innovative products to empower biomedical science researchers. We provide comprehensive and systematic analysis for expression and epigenetic profiling for the regulation of RNAs, especially the regulatory non-coding RNAs (ncRNAs).
ASHG Central.............................................. 1101 Email:
[email protected] URL: http://www.ashg.org | www.ajhg.org ASHG Central is the place for you to relax, recharge your devices, meet colleagues, and get all the information you need. ASHG Membership staff is waiting to answer your questions and you can meet the editors of The American Journal of Human Genetics and pick up a free gift. You can also turn in your completed Expo Passports daily for the chance to win prizes!
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ASHG/FASEB Career Resources.............. 1533 Email:
[email protected] URL: http://careers.faseb.org
B. Braun CeGaT, LLC................................... 819 Email:
[email protected] URL: http://www.bbrauncegat.com
The FASEB Career Resources Center will have coaches available to give attendees career guidance, provide interview tips, and critique resumes or CVs. This event does not require a ticket. Stop by the FASEB Career booth in the Exhibit Hall to make your appointment.
B. Braun CeGaT LLC, a genetic diagnostic laboratory, specializes in utilizing next generation sequencing technology to discover the cause of an individuals 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.
ATTO Corporation...................................... 1029 Email:
[email protected] URL: http://www.atto.co.jp ATTO Corporation is a scientific instrument developer and manufacturer for biomedical research. ATTO corporation provide Polyacrylamide Gel Electrophoresis Devices, PAGEL(precast gel), Perista Pump, Printgraph (Gel Documentation System), Ez-Capture (bio/ chemi-luminescence Imaging detection), etc. ATTO released new analytical tools for gene expression study (Ex: Cellgraph, Kronos Dio) to meet the protein/ bio-molecule research.
Aurora Biomed.............................................. 821 Email:
[email protected] URL: http://www.aurorabiomed.com Aurora Biomed specializes in the design and manufacture of quality liquid handling robotics. Aurora provides standard, OEM, and customized solutions for a variety of applications including NGS target capture, PCR/qPCR setup, DNA/RNA purifications, and NGS library prep among others. Stop by to discuss how to make your workflow more efficient.
AutoGen, Inc................................................. 607 Email:
[email protected] URL: http://www.autogen.com Come see the brand new FULLY AUTOMATED FlexSTAR+ from AutoGen, offering liquid handing for large volume whole blood DNA extraction from primary tube sampling to final DNA elution storage tubes all in a single compact platform. The FlexSTAR+ features positive sample tracking, a robust and reliable precipitation chemistry and the flexible processing capacity you need for real productivity.
Baylor Miraca Genetics Laboratories......... 511 Email:
[email protected] URL: http://www.bcmgeneticlabs.org Baylor Miraca Genetics Laboratories offer a broad range of diagnostic genetics tests. We provide state of the art testing including Prenatal Chromosomal Microarray testing (for amniocentesis and CVS samples), DNA diagnostics, sequencing, cytogenetics, FISH diagnostics, cancer cytogenetics and testing, chromosomal microarray analysis, whole exome sequencing, biochemical genetics, Mitochondrial DNA analysis and comprehensive molecular diagnosis.
BC Platforms Ltd.......................................... 712 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, agrigenomics, preventive and personalized medicine and biobanking. The company was founded in 1997 and today we serve a wide international customer base in 18 different countries.
BD Biosciences............................................ 419 Email:
[email protected] URL: http://www.bdbiosciences.com BD Biosciences, a segment of Becton, Dickinson and Company, is one of the world’s leading businesses focused on bringing innovative tools to life science researchers and clinicians. Its product lines include: flow cytometers, cell imaging systems, monoclonal antibodies, research reagents, diagnostic assays, and tools to help grow tissue and cells.
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202 EXHIBITORS Beckman Coulter Life Sciences.................. 925 Email:
[email protected] URL: http://www.beckmancoulter.com
BioMarin Medical Affairs............................. 316 Email:
[email protected] URL: http://www.bmrn.com
Beckman Coulter Life Sciences is dedicated to improving the health of people around the world. The company’s global leadership, world-class service and support delivers sophisticated instrument systems, reagents and services to researchers in academic and commercial laboratories, enabling new discoveries in biology-based research and development including genomics and proteomics.
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. Visit www.BMRN. com to learn more.
Beckman Coulter Genomics....................... 917 Email:
[email protected] URL: http://www.beckmangenomics.com
BioMarin Pharmaceutical Inc...................... 211 Email:
[email protected] URL: http://www.bmrn.com
Beckman Coulter Genomics, headquartered in Danvers, Massachusetts is a leading provider of Next Generation and Sanger sequencing services with Bioinformatics solutions serving life science and healthcare businesses as well as academic and government institutions worldwide.
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. Visit www.BMRN. com to learn more.
BGI/Complete Genomics, Inc.................... 1815 Email:
[email protected] URL: http://www.completegenomics.com
BioNano Genomics, Inc............................... 807 Email:
[email protected] URL: http://www.bionanogenomics.com
BGI, the leading provider of genomics products and services with over 5,000 employees across the globe, offers comprehensive sequencing and bioinformatics solutions for research, pharmaceutical, and clinical applications. BGI’s subsidiary Complete Genomics is now previewing the Revolocity™ system, the only fully integrated solution for end-to-end, large scale genomic sequencing.
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.
BioDiscovery, Inc.......................................... 603 Email:
[email protected] URL: http://www.biodiscovery.com
Bioo Scientific............................................. 1605 Email:
[email protected] URL: http://www.biooscientific.com
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, and sequence variation data.
Bioo Scientific’s NEXTflex™ kits bring reduced bias, improved quantitation, and increased sensitivity, flexibility and speed to NGS library preparation. Rapid DNA-Seq, ChIP-Seq, Bisulfite-Seq, 16S and 18S rRNA Amplicon-Seq, reduced bias small RNA-Seq, stranded RNA-Seq and traditional RNA-Seq kits are available with flexible multiplexing options including up to 384 barcoded adapters.
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EXHIBITORS 203
Bio-Rad....................................................... Bio-Rad. ....................................................... 1007 Email:
[email protected] URL: http://www.discover.bio-rad.com 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, and transfection. Bio-Rad’s Digital Biology Center specializes in the development of advanced technologies for the growing field of digital biology including droplet digital PCR and digital sequencing.
Biosearch Technologies, Inc....................... 702 Email:
[email protected] URL: https://www.biosearchtech.com
Canon BioMedical, Inc................................. 121 Email:
[email protected] URL: http://www.uslifesciences.com Canon BioMedical, Inc. is focused on empowering the biomedical research and healthcare communities by developing, manufacturing, and marketing innovative technologies and solutions. The technologies and solutions developed will help enable clinicians and scientists to improve our health, advance science and protect the world we share.
Cartagenia................................................... 1703 Email:
[email protected] URL: http://www.cartagenia.com
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.
Cartagenia, a part of Agilent Technologies, delivers diagnostic support software for constitutional diseases, prenatal screening and oncology to enable genetic labs, pathology labs and clinicians to perform clinically relevant genetic analyses quickly and efficiently, empowering them to offer referrers, patients and carers high-quality genetic interpretation and counseling.
Biotium, Inc................................................. 2316 Email:
[email protected] URL: http://www.biotium.com
Cell Press.................................................... 1508 Email:
[email protected] URL: http://www.cell.com
Biotium is a life science reagent company based in the Bay Area. The company is specialized in developing and manufacturing innovative fluorescent detection reagents that are widely used in many research and diagnostic applications including molecular biology, cell biology, microbiology and drug discovery.
Cell Press is proud to publish The American Journal of Human Genetics, the journal from ASHG. Visit Cell Press booth #1508 for the latest high-quality genetics research and to meet Cell Press editors! Pick up free journal copies, including AJHG, Cell, Cell Reports, Current Biology, and Trends in Genetics.
Blueprint Genetics...................................... 2330 Email:
[email protected] URL: http://www.blueprintgenetics.com
Center for Inherited Disease Research (CIDR).......................................................... 2108 Email:
[email protected] URL: http://www.cidr.jhmi.edu
Blueprint Genetics is a genetics company based in Helsinki and San Francisco. We are a team of cardiologists, geneticists, bioinformaticians and DNA biologists providing comprehensive and high quality genetic diagnostics with Next-Generation Sequencing (NGS).
Broad Institute Genomic Services............ 1720 Email:
[email protected]
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Broad Institute Genomic Services offers fee-for-service products for CLIA and research next generation sequencing. Focusing on oncology, offering products for discovering and confirming variants in both clinical and research studies. Our strong capabilities in leveraging genomics for clinical trials provide unique capabilities to accelerate research and drug development.
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. www.cidr.jhmi.edu
204 EXHIBITORS Centogene AG............................................. 1822 Email:
[email protected] URL: http://www.centogene.com
Chroma/89 North........................................ 2123 Email:
[email protected] URL: http://www.chroma.com
Centogene is a worldwide leader in the field of genetic diagnostic testing for rare hereditary diseases with international presence in over 90 countries. Centogene’s mission is to support medical professionals with in-depth medical expertise. To enable evidence based diagnostics, Centogene developed constantly the largest clinically annotated mutation database, CentoMD®.
Chroma Technology manufactures the highest quality filter sets for FISH using advanced filter coating techniques. We understand the challenges of FISH imaging, and we work with you to determine the most appropriate filters to increase your workflow and accuracy. Free technical support, lifetime warranties and dedicated FISH filter sets.
Ceres, Inc / Persephone............................ 2414 Email:
[email protected] URL: http://www.Persephone.net
Claritas Genomics........................................ 304 Email:
[email protected] URL: http://www.claritasgenomics.com
Ceres, Inc. is re-defining the genome browser with its Persephone software, which offers powerful, new ways to explore genomic data. Persephone has an intuitive, easy-to-understand interface that provides multiple chromosome views, trait ontologies, genetic maps, real-time gene translation and more. -Omics software platform for storage, access, and visualization of dataProfessional services to customize platform
Claritas Genomics serves children affected with complex genetic disorders by providing timely and accurate results, resolving families’ long search for answers. By combining clinical expertise of the world’s best pediatric specialists with innovative platform solutions, Claritas is working to improve patient care and enable new discoveries.
Cergentis..................................................... 2322 Email:
[email protected] URL: http://www.cergentis.com Cergentis provides kits and services based on its Targeted Locus Amplification (TLA) Technology. Uniquely, the TLA Technology (Nature Biotechnology 32, 10191025 (2014)) enables the targeted complete Next Generation Sequencing and haplotyping of any locus of interest and the detection of all Single Nucleotide & Structural Variants.
chemagen from PerkinElmer, Inc................ 519 Email:
[email protected] URL: http://www.PerkinElmer.com chemagen a leading supplier of automation and reagents for fast and reliable magnetic bead based DNA and 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 the one instrument.
CHI Center for Translational Research..... 2003 Email:
[email protected] URL: http://www.chiresearch.org/CTR The Catholic Health Initiatives (CHI) Center for Translational Research (CTR) facilitates precision medicine through distribution of biospecimens and associated data. The CTR’s operational infrastructure consists of the CHI hospital network, dedicated research staff, translational research software and IRB-approved protocols. = First time exhibitor Shaded = Meeting Supporter
ClinGen Resource....................................... 2006 Email:
[email protected] URL: http://www.clinicalgenome.org The Clinical Genome Resource (ClinGen) is an NIHfunded effort to building a genomic knowledge base to improve patient care.
Clontech Laboratories Inc......................... 2122 Email:
[email protected] URL: http://www.clontech.com Clontech Laboratories, Inc. provides kits, reagents, and services that help researchers explore questions about gene discovery, regulation, and function. A member of the Takara Bio Group, Clontech is part of a company with a leadership position in the global market and is committed to improving the human condition through biotechnology.
Cold Spring Harbor Laboratory Press...... 1608 Email:
[email protected] URL: http://www.cshlpress.org CSHL Press publishes scientific journals, books, manuals, and online resources including a preprint service, used by 2,000+ academic, government, and corporate research institutions and hundreds of thousands of scientists worldwide. Publications include two of the world’s top four research journals in genetics, celebrated lab manuals, and renowned handbooks for scientists.
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Connective Tissue Gene Tests.................... 814 Email:
[email protected] URL: http://www.ctgt.net
Cypher Genomics......................................... 931 Email:
[email protected] URL: http://www.cyphergenomics.com
Connective Tissue Gene Tests (CTGT) specializes in molecular diagnostic testing for inherited genetic disorders. CTGT offers a large test menu of over 1,000 NGS, Sanger Sequencing, Deletion/Duplication and Comprehensive tests, and is continuously growing. CTGT has high test sensitivity, fast turnaround time, expert advice and superior customer service.
Cypher Genomics is advancing genome informatics through a highly accurate, rapid and robust interpretation solution for use in human genome sequencing. Cypher technology combines a deep expertise in genetics and biology with advanced data science to enable the development of differentiated molecular tests, discovery of novel biomarkers and automating population-scale interpretation.
Coriell Institute for Medical Research...... 1820 Email:
[email protected] URL: http://catalog.coriell.org Coriell Institute for Medical Research (Camden, NJ) is a non-profit biomedical research institute. Founded in 1953, Coriell’s mission is to unlock the genetic code of human disease. Coriell is recognized as the world’s leading biobank and Coriell’s Personalized Medicine Collaborative study examines the utility of genetic information in clinical care.
Counsyl ....................................................... 2334 Email:
[email protected] URL: http://www.counsyl.com Counsyl is a health technology company offering DNA screening at key times in people’s lives. We’ve unlocked a scalable platform in our modern clinical lab that generates meaningful health insights at a fraction of the standard cost. From the purely mechanical to the profoundly human, Counsyl strives to make DNA screening truly accessible to everyone.
Covaris Inc.................................................. 1825 Email:
[email protected] URL: http://www.covarisinc.com Covaris is the recognized industry leader for DNA fragmentation. Adaptive Focused Acoustics (AFA) is the gold standard for shearing DNA and RNA in NextGeneration Sequencing applications, without GC bias or thermal-induced damage. Covaris Focusedultrasonicators are recommended by all major NGS sequencing platform providers, and are used by leading Genome Centers.
CytoTest Inc.................................................. 928 Email:
[email protected] URL: http://www.cytotest.com CytoTest is a dynamic biotechnology company. We are specialized in the design and production of DNA FISH Probes. Our product portfolio includes probes for clinically validated as well as research-stage targets and custom-deigned products. Our goal is the development of the state-of-the-art yet affordable molecular cytogenetics solutions.
DeNovix Inc................................................. 1824 Email:
[email protected] URL: http://www.denovix.com DeNovix Inc. develops, manufactures and sells laboratory equipment for life science applications. Our stand-alone instruments include 1L UV-Vis Spectrophotometers, Fluorometers and the DS-11 FX+ with 1L UV-Vis, cuvette UV-Vis and Fluorescence combined. Instruments include an Android HD touchscreen interface and built-in Wi-Fi, Ethernet and USB.
Diagenode Inc............................................. 1803 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, ChIP-seq kits for only 10,000 cells, and the industry’s most validated antibodies.
Diploid turns BAM or VCF files into a clinical report signed by a board-certified clinical geneticist. Based on your NGS data and a phenotype description, an extensive report listing the suspected causal variants is delivered to you within 14 business days. Stop by our booth for a free NGS analysis. = First time exhibitor Shaded = Meeting Supporter
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Diploid......................................................... 1709 Email:
[email protected] URL: http://www.diploid.com
206 EXHIBITORS DNA Link USA, Inc...................................... 1018 Email:
[email protected] URL: http://www.dnalink.com
Edico Genome Inc........................................ 914 Email:
[email protected] URL: http://www.edicogenome.com
DNA Link USA is your link to precision genomics. Supporting clients across the globe with their sequencing needs by providing the right amount of experimental design combined with the latest NGS instruments. We pride ourselves in achieving the highest level of quality/results demanded by our customers. ASHG promotions available.
Edico Genome is the developer of the DRAGEN BioIT Processor. DRAGEN forms the basis of a highly scalable and flexible platform that massively accelerates NGS data analysis from many hours down to only a few minutes while also improving accuracy beyond the best methods previously available.
DNA Genotek...................................... 717, 2234 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 infectious disease applications. 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.
DNAnexus, Inc............................................ 1821 Email:
[email protected] URL: http://www.dnanexus.com DNAnexus combines expertise in cloud computing and bioinformatics to create a global network for genomic medicine. DNAnexus provides security, scalability and collaboration for enterprises and organizations that are pursuing genomic-based approaches to health in order to accelerate medical discovery. DNAnexus is supporting customers around the world that are tackling some of the most challenging and exciting opportunities in human health. For more information, please visit: https://dnanexus.com and follow us at @dnanexus.
DNASTAR, Inc............................................... 716 Email:
[email protected] URL: http://www.dnastar.com DNASTAR has pioneered development of desktop computer and cloud sequence assembly and analysis software to increase life scientists’ productivity for over 30 years. DNASTAR’s products include Lasergene software for traditional sequence analysis, next-generation DNA and RNA sequence assembly and analysis, and protein visualization and structure prediction.
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Elsevier........................................................ 1506 Email:
[email protected] URL: http://www.elsevier.com Explore Elsevier’s high-impact content in human genetics. Learn the latest in research news from journals such as European Journal of Medical Genetics and Journal of Genetics and Genomics. Our exciting books on display include Epigenetic Cancer Therapy, Epigenetic Technological Applications and Clinical Applications for Next Generation Sequencing. Discover our highly regarded electronic research and solution tools via ScienceDirect!
Embi Tec...................................................... 2206 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.
Emory Genetics Laboratory........................ 818 Email:
[email protected] URL: http://www.geneticslab.emory.edu EGL specializes in genetic diagnostic testing, with 45 years of clinical experience and board-certified laboratory directors and genetic counselors reporting out cases. EGL offers a combined 1100 molecular genetics, biochemical genetics, and cytogenetics tests under one roof and custom testing for all medically relevant genes, for domestic and international clients.
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Enzo Life Sciences, Inc................................ 920 Email:
[email protected] URL: http:///www.enzolifesciences.com
Eppendorf...................................................... 302 Email:
[email protected] URL: http://www.eppendorf.com
Enzo Life Sciences is a recognized pioneer and innovator in life sciences tools with a strong foundation in molecular biology. We offer a wide array of tools for genomics research including our superior aCGH labeling kit and our FISH solutions: Nick Translation kit and fluorescent dUTPs.
Eppendorf offers multipurpose and micro centrifuges; electronic, manual, and repetitive pipettes; bottletop dispensers; standard thermal cyclers; microinjectors/ manipulators; spectrophotometers; tube and plate heaters and shakers; automated liquid handlers; ULT freezers, shakers, CO2 incubators, bioprocessing solutions and cell culture and cell imaging consumables. Accompanying consumables and repair/calibration services available.
Enzymatics, Inc........................................... 2302 Email:
[email protected] URL: http://www.enzymatics.com Enzymatics, a Qiagen Company founded in 2006, commercializes a comprehensive portfolio of reagents that are estimated to be used in more than 80% of all global NGS sequencing reactions. These enzymes are key ingredients across the workflows of all commercially available sequencing solutions.
Eone Diagnomics Genome Center Co. Ltd.................................................................. 926 Email:
[email protected] URL: http://www.edgc.com Eone-Diagnomics Genome Center (EDGC) and Diagnomics focuses on innovative products and services development for personalized medicine based on Next Generation Sequencing (NGS) technology and cutting edge genomics analysis. Our goal is to provide high quality healthcare products and services to guide personalized medicine based on an individual’s genetic information.
EpigenDx, Inc................................................ 919 Email:
[email protected] URL: http://www.epigendx.com EpigenDx was incorporated in 2006 as a genomic and epigenomic research company specializing in disease biomarker discovery, validation and molecular diagnosis, with an unmatched expertise in the field of DNA methylation analysis.
Epigentek Group Inc.................................. 2314 Email:
[email protected] URL: http://www.epigentek.com
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The European Human Genetics Conference 2016 will be held in Barcelona, Spain from May 21 - May 24, 2016. 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.
FDNA Inc....................................................... 915 Email:
[email protected] URL: http://www.fdna.com FDNAs mission is to save lives & improve quality of life of patients with rare or difficult-to-diagnose genetic syndromes. FDNA has developed Face2Gene, a neurogenetic search & reference tool powered by Facial Dysmorphology Novel Analysis FDNA® technology that facilitates detection of facial dysmorphic features and recognizable patterns of human malformations from facial photos.
Fluidigm Corporation................................. 1814 Email:
[email protected] URL: http://www.fluidigm.com Fluxion Biosciences................................... 1519 Email:
[email protected] URL: http://www.fluxionbio.com Fluxion’s products are used by the world’s leading biopharmaceutical, clinical, and research institutions. The IsoFlux System delivers isolated circulating tumor cell (CTC) samples with high recovery, purity, viability, and transfer efficiency to downstream molecular analyses, including next-generation sequencing (NGS).
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Epigentek is the leading provider of epigenetic assay kits, antibodies, reagents, and services through a comprehensive approach. As the first company to specialize exclusively in epigenetics, Epigentek pioneered the commercialization of many techniques commonly used today in DNA methylation, histone modification, and chromatin studies.
European Human Genetics Conference 2016............................................................. 1908 Email:
[email protected] URL: http://www.eshg.org/eshg2015
208 EXHIBITORS Formulatrix.................................................... 924 Email:
[email protected] URL: http://www.formulatrix.com
Gene Codes Corporation........................... 1515 Email:
[email protected] URL: http://www.genecodes.com
Formulatrix is a leading provider of next generation of liquid handling and digital PCR solutions for genomic research. We supply software and robotic automation solutions to leading pharmaceutical companies and academic research institutions around the world. Our team works tirelessly to provide the best products in the industry with support that is second to none.
Gene Codes Corporation develops Sequencher®, sequence analysis software for DNA (NGS and Sanger) and RNA-Seq data sets. Scientists around the world rely on Sequencher’s intuitive user interface, speedy alignment algorithms, and powerful SNP discovery tools to deliver results. Stop by our booth to see whats new in Sequencher 5.4.
Fulgent Diagnostics................................... 2215 Email:
[email protected] URL: http://www.fulgentdiagnostics.com
GeneDx........................................................ 2015 Email:
[email protected] URL: http://www.genedx.com
Fulgent Diagnostics provides a wide array of genetic testing ranging from 4,600+ single gene tests, 170+ preset panels, rearrangement testing, and our All-in-One reflex test. In addition, Fulgent enables customers to easily order custom NGS panels. Most importantly, Fulgent Diagnostics provides flexibility, high quality testing, and affordable pricing.
GeneDx is highly respected laboratory, specializing in genetic testing for inherited 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, nextgeneration and microarray-based testing.
Garland Science......................................... 1606 Email:
[email protected] URL: http://www.garlandscience.com Garland Science is pleased to exhibit Genetics and Genomics in Medicine by Strachan et al, and Human Molecular Genetics by Strachan & Read. Please visit us to browse these and other titles, including the new Sixth Edition of Molecular Biology of the Cell. Receive a 30% discount on all purchases.
GENALICE .................................................. 2031 Email:
[email protected] URL: http://www.genalice.com GENALICE is a big data management company with revolutionary solutions in healthcare and agbio. Its global headquarters is located in the Netherlands. GENALICE designs groundbreaking software solutions for ultra-fast, accurate and cost-effective NextGeneration Sequencing (NGS) data analysis. With GENALICE MAP, the company has introduced the first NGS secondary data analysis pipeline with true population power.
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Genetic Information Management Systems......................................................... 203 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.
Genetic Engineering & Biotechnology News.............................................................. 827 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.
EXHIBITORS 209
Genetic Metabolic Center for Education..... 2323 Email:
[email protected] URL: http://www.geneticmetabolic.com
GenoLogics................................................... 412 Email:
[email protected] URL: http://www.genologics.com
GMCE is a technology-based educational and advisory resource for physicians who care for patients with metabolic disorders. GMCE was developed to bridge a coverage gap in genetic metabolic expertise. Through Telehealth consultations, conferences, and eLearning, GMCE trains physicians and specialists in how to develop a proper and timely diagnosis and treatment plan for their patients.
GenoLogics provides industry-leading laboratory information management system (LIMS) software for clinical and research labs working with genomics and mass spec technologies. Genologics’ two product lines Clarity LIMS and Clarity Run Manager address the challenges of a range of labs. Both offer quick implementation, support for compliance, and an easy-to-use interface.
Genetics Society of America..................... 2008 Email:
[email protected]
GENOMENON............................................. 1616 Email:
[email protected] URL: http://www.genomenon.com
The Genetics Society of America (GSA), the professional scientific society for genetics researchers and educators, works to advance the field of genetics. GSA publishes two peer-reviewed, peer-edited scholarly journals: GENETICS, publishing high quality original research since 1916, and G3: Genes|Genomes|Genetics, an open-access journal for foundational research in genetics and genomics.
Gene Tools, LLC.......................................... 1802 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
Genial Genetic Solutions/Rainbow Scientific, Inc.................................................................. 817 Email:
[email protected] URL: http://www.genialgenetics.com
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GenomOncology......................................... 2223 Email:
[email protected] URL: http://www.genomoncology.com GenomOncology enables precision medicineby transforming genetic data into actionable information. The GO Precision Medicine Portfolio™ is trusted by molecular pathologists and medical geneticists for streamlined development and production of knowledge- and guideline-driven cancer and hereditary disease tests. GenomOncology’s technology allows genetics to fuel integrated clinical decision support and research.
GenoSpace.................................................... 313 Email:
[email protected] URL: http://www.genospace.com/ At GenoSpace, we are Digital Architects of Genomic Medicine™. GenoSpace has built a comprehensive platform for precision medicine to enable interpretation, analysis, reporting and collaboration on high-dimensional genomic and other biomedical data. Many of the most advanced precision medicine organizations in research, development and clinical care are powered by GenoSpace.
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Genial Genetics offers the robotic MultiPrep Genie and Cell Sprint Harvesting systems for surface culture and suspension culture harvesting; ProCell reagents that yield high quality cytogenetic preparations; Genetic database software products- Shire, iGene and iPassport QMS - integrated multi-discipline genetic patient management with auditing and document/ process control capabilities, and Pedigree Draw, intuitive software for pedigree generation.
GENOMENON produces software that facilitates tertiary analysis of genome sequencing data. MASTERMIND is a comprehensive, evidence-based database of disease-gene-variant associations. SAVANT is a diagnostic tool that prioritizes disease-causing variants. PRODIGY is a discovery tool that automatically identifies candidate disease-causing variants for research. Visit our booth to learn more.
210 EXHIBITORS Genzyme, a Sanofi Company.......... 2205, 2304 Email:
[email protected] URL: http://www.genzyme.com
Greenwood Genetic Center....................... 1903 Email:
[email protected] URL: http://www.ggc.org
Global Alliance for Genomics and Health.......................................................... 2124 Email:
[email protected] URL: http://genomicsandhealth.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.
The Global Alliance for Genomics and Health (GA4GH) is an international, non-profit alliance formed to help accelerate the potential of genomic medicine. GA4GH Members are working together to create a common framework of standards and harmonized approaches to enable the responsible, voluntary, and secure sharing of genomic and clinical data.
Globus Genomics....................................... 1117 Email:
[email protected] URL: http://globus.org/genomics/
Hamilton Robotics...................................... 2103 Email:
[email protected] URL: http://www.hamiltonrobotics.com Hitachi High Technologes.......................... 1915 Email:
[email protected] URL: http://www.inspirethegenome.com
Globus Genomics simplifies large scale NGS analysis in the cloud. Our unique solution incorporates graphical workflows and elastic compute infrastructure with comprehensive functionality for moving, sharing, and publishing big data sets directly from your own laptop or storage system, using just a web browser.
Hitachi High Technologies professionals make contributions of lasting significance through concentration on innovative design, utilization of the worlds most advanced technologies, and an ethos to deliver products and services that meet or exceed customer expectations in terms of value, reputation, and dependability across life sciences.
Glut1 Deficiency Foundation..................... 2425 Email:
[email protected] URL: http://www.g1dfoundation.org
Horizon Pharma............................................ 217 Email:
[email protected] URL: http://www.horizonpharma.com
The Glut1 Deficiency Foundation is a volunteer, non-profit family organization dedicated to increasing awareness of and advocacy for Glut1 Deficiency, educating others, and supporting and funding researchers as they work for better treatments and an ultimate cure.
Horizon Pharma plc is a specialty biopharmaceutical company focused on improving patients’ lives by identifying, developing, acquiring and commercializing differentiated and accessible medicines that address unmet medical needs. The Company markets seven medicines through its orphan, primary care and specialty business units. Horizon’s global headquarters are in Dublin, Ireland.
Golden Helix, Inc.......................................... 311 Email:
[email protected] URL: http://www.goldenhelix.com Golden Helix delivers industry leading bioinformatics solutions for the advancement of life science research and clinical and translational medicine. Our innovative technologies and analytic services empower scientists and healthcare professionals at all levels to derive meaning from the rapidly increasing volumes of genomic data produced from microarrays and next-generation sequencing.
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Human Variome Project............................. 2409 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.
EXHIBITORS 211
Hussman Institute for Human Genomics Center for Genome Technology at U.Miami....................................................... 2325 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.
ICHG 2016................................................... 2002 Email:
[email protected] URL: http://www.ichg2016.org International Congress on Human Genetics (ICHG), started in 1961, is the authoritative conference in our field. East Asian Union of Human Genetics Societies and Japan Society of Human Genetics will host ICHG2016. Join us in Kyoto for ICHG2016! Official website: http://www.ichg2016.org/
Illumina, Inc................................................... 411 Email:
[email protected] URL: http://www.illumina.com Illumina® is transforming human health as the global leader in sequencing and array-based technologies. The company serves customers in a broad range of markets, enabling the adoption of genomic solutions in research and clinical settings. To learn how Illumina is unlocking the power of the genome, visit www. illumina.com and follow @illumina.
IMEC............................................................ 2007 Email:
[email protected] URL: http://www.imec.be
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Implen is a privately held corporation that is a leading supplier for spectroscopy instruments and consumables for the non-destructive analysis of ultra low volume samples. The company focuses on biological, chemical, and pharmaceutical laboratories in industry and research.
Inova Translational Medicine Institute...... 2004 Email:
[email protected] URL: http://www.inova.org Inova Translational Medicine Institute (ITMI), a research arm of the largest health system in Northern Virginia, and a world-class genomic research organization. ITMI conducts ground-breaking clinical and multi-’omic’ research, improving patient care and to transform predictive healthcare. We utilize sophisticated analytics to add meaningful input in the field of personalized healthcare and precision medicine.
InsideMD..................................................... 1028 At InsideMD, we are a survey tool that understands physicians. These surveys are created by doctors for doctors. After completing a survey, you can compare your responses with those peers to gain insights into what sets your practice apart from your colleagues.
INTEGRA Biosciences................................ 2114 Email:
[email protected] URL: http://www.integra-biosciences.com INTEGRA, a leading provider of high-quality laboratory tools for liquid handling and media preparation. We are committed to fulfill the needs of customers in research, diagnostics and quality control within the life science and medical industry. Visit www.integrabiosciences.com to see our new, groundbreaking VIAFLO 96 and 384 Channel Electronic Pipette.
Integrated DNA Technologies, Inc. Inc.............. ............ 927 Email:
[email protected] URL: http://www.idtdna.com Integrated DNA Technologies (IDT) is the world leader in custom nucleic acid manufacturing for the life sciences research and clinical diagnostics markets, serving academic and clinical research, biotechnology, pharmaceutical development, and agricultural research. IDT product applications include qPCR, gene construction, genome editing, next generation sequencing, SNP detection, and functional genomics.
EXHIBITORS
Imec performs world-leading research in nanoelectronics and leverages its scientific knowledge with the innovative power of its global partnerships in ICT, healthcare and energy. Imec aims to find solutions for future healthcare and wellness needs by combining microelectronics and biotechnology into heterogeneous systems for diagnosis and therapy. www.imec. be
Implen, Inc................................................... 1026 Email:
[email protected] URL: http://www.implen.com
212 EXHIBITORS Interactive Biosoftware................................ 617 Email:
[email protected] URL: http://www.interactive-biosoftware.com
JAMA Network............................................ 1509 Email:
[email protected] URL: http://www.jamanetwork.com
Interactive Biosoftware is the creator of the Alamut® Software Suite, including Alamut® Visual, a graphical variant interpretation environment used by leading genetic clinicians and researchers around the world, Alamut® Batch, a high-throughput variant annotation engine for NGS data, and Alamut® Focus, an interactive variant filtration application.
Building on a tradition of editorial excellence, The JAMA Network brings JAMA together with ten specialty journals to offer enhanced access to the research, viewpoints, and medical news shaping medicine today and into the future. JAMA Oncology, a new peer-reviewed journal, launched in 2015.
Invitae.......................................................... 1423 Email:
[email protected] URL: http://www.invitae.com Invitae, a genetic information company, is aggregating the world’s 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.
IRDiRC - Inserm US14................................ 1904 Email:
[email protected] URL: http://www.irdirc.org/ The International Rare Diseases Research Consortium (IRDiRC) teams up researchers and organizations investing in rare diseases research to achieve two main objectives by 2020: to deliver 200 new therapies and the means to diagnose most rare diseases. IRDiRC works with stakeholders from academia, industry, regulators, health services and support groups.
Irvine Scientific........................................... 2422 Email:
[email protected] URL: http://www.irvinesci.com Isohelix........................................................ 1030 Email:
[email protected] URL: http://www.isohelix.com Isohelix manufactures innovative DNA Buccal Swabs and DNA Saliva Collection Devices, with a selective range of Optimized DNA Stablisation and Purification Kits giving the highest yields and purity for Manual, HT and Automated Applications. Products also available for RNA, Blood and Buffy Coat Collection, Stablisation and Purification.
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JSI medical systems GmbH...................... 1724 Email:
[email protected] URL: http://www.JSI-medisys.com JSI medical systems with US office in Boston area 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), Sanger sequencing, HLA SBT and MLPA data. For detailed information please visit www.jsi-medisys.com or contact us via mail@ jsi-medisys.com.
Kapa Biosystems Inc................................... 918 Email:
[email protected] URL: http://www.kapabiosystems.com Kapa Biosystems is a life science reagents company that utilizes a proprietary directed evolution technology to optimize enzymes for PCR, real-time PCR and next-generation sequencing applications. Please join us as Emory University presents Optimized library generation for epigenomic analyses of ultra-low input sample on October 8th 7:00pm, Room 343/344.
Labcyte Inc.................................................. 2202 Email:
[email protected] URL: http://www.labcyte.com Labcyte Echo liquid handlers use sound to precisely transfer liquids without contact, eliminating the use of pipettes. Labcyte instruments are used throughout the pharmaceutical industry, genome centers, genomic service companies, biotechnology firms, and academic institutions. Our customers work across a wide spectrum of scientific research.
EXHIBITORS 213
Laboratory for Molecular Medicine, Partners....................................................... 1517 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.
Labroots...................................................... 1615 Email:
[email protected] URL: http://labroots.com/ LabRoots is the leading scientific social networking website and producer of educational virtual events and webinars. We are a powerful advocate in amplifying global networks and communities, and contributing to the advancement of science through content sharing and group interactions. Join for free and become part of the largest scientific learning community in the world.
Lathrop Engineering Inc.............................. 616 Email:
[email protected] URL: http://www.lathropengineering.com Lathrop is a full-service contract product development firm specializing in end-to-end development solutions from concept through to commercial product. We offer complete design, engineering, and manufacturing support: program management, industrial design, mechanical engineering, software and electronic engineering, optics design/engineering, and system analysis for life science/diagnostic instrumentation and medical devices.
LC Sciences................................................ 2308 Email:
[email protected] URL: http://www.lcsciences.com
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Achieve efficiency without compromising quality in Cytogenetic imaging, FISH diagnostics and staining automation. Leica Biosystems is a global partner developing and supporting the world renowned CytoVision imaging platform together with the broadest range of Leica Kreatech FISH probes and fully automated slide processing with the Thermobrite Elite.”
Lexogen......................................................... 718 Email:
[email protected] URL: http://www.lexogen.com Lexogen is a transcriptomics and Next Generation Sequencing company, focusing on the development of technologies for complete transcriptome sequencing. Our portfolio includes QuantSeq 3’mRNA-Seq Library Prep Kit, SENSE Total RNA/mRNA-Seq Library Prep Kits, TeloPrime Full-Length cDNA Amplification Kit, SPLIT RNA Extraction Kit and SQUARE Technology for splice variants analysis.
Lucigen Corporation.................................. 2119 Email:
[email protected] URL: http://www.lucigen.com Lucigen provides products and services to support NGS, protein expression, and molecular biology applications in an ISO 13485 compliant environment. With a focus on quality and customer service, we strive to make your time in the laboratory productive and successful.
MACHEREY-NAGEL Inc............................. 2315 Email:
[email protected] URL: http://www.mn-net.com MACHEREY-NAGEL provides innovative, client-driven solutions for nucleic acid purification including DNA and RNA purification, cleanup, and concentration. Our protein purification products offer flexible advantages without sacrificing quality. With over 100 years of expertise, MN offers a complete product portfolio including Bioanalysis, Filtration, Rapid Tests, Water Analysis, and Chromatography.
EXHIBITORS
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.
Leica Biosystems ...................................... 2231 Email:
[email protected] URL: http://www.leicabiosystems.com
214 EXHIBITORS Macrogen Clinical Laboratory................... 1702 Email:
[email protected] URL: http://www.macrogenlab.com
MetaSystems.............................................. 2106 Email:
[email protected] URL: http://www.metasystems.org
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 eighteen years of sequencing experience uniquely position us to contribute in the next generation genomic sequencing.
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. Please visit our website www.metasystems.org
MagBio Genomics, Inc............................... 2107 Email:
[email protected] URL: http://www.magbiogenomics.com MagBio Genomics provides targeted and costeffective magnetic bead-based products for NGS library cleanup workflow, PCR cleanup workflow, Sanger sequencing workflow as well as genomic DNA and RNA purification kits from FFPE tissues, Blood (whole, plasma, serum), to Cell-Free DNA.
Maverix Biomics, Inc.................................. 1625 Email:
[email protected] URL: http://www.maverixbio.com Maverix Biomics, Inc. provides researchers with a cloud-based platform to manage, analyze, and visualize genomic data, build Communities of Discovery, and place their data in context with the latest public data from the full spectrum of life, including human, plant, animal, or microbial organisms. Maverix also provides reference laboratories and diagnostic testing companies with a cloud-based platform for conducting analysis and generating reports as part of an NGS-based, regulatory compliant diagnostic testing workflow. For more information, visit www.maverixbio.com.
Mawi DNA Technologies............................ 2222 Email:
[email protected] URL: http://www.mawidna.com Mawi has developed the iSWAB system, a non-saliva, non-invasive sample collection method delivering 10 - 30ug of DNA with < 1% bacterial contamination. Samples can be easily collected from any population segment including infants, elderly, handicapped, and also animals. Ambient stability and reduced processing time yields significant cost savings.
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MO BIO Laboratories, Inc.......................... 2318 Email:
[email protected] URL: http://www.mobio.com MO BIO Laboratories, Inc. is a global leader in solutions for nucleic acid purification, offering innovative tools for research in molecular biology. MO BIO’s line of soil and microbial isolation kits are now the method of choice among environmental and microbiology researchers studying microbial DNA and RNA.
Molecular Cloning Laboratories (MCLAB)...................................................... 1025 Email:
[email protected] URL: http://www.mclab.com Molecular Cloning Laboratories (MCLAB) is a leading provider of high quality and cost-effective genomic and proteomic research consumables and services. We specialize in Sanger Sequencing, NGS Library Preparation, DNA Fragment Analysis products and carry a large selection of antibodies, enzymes, cloning kits, PCR kits and molecular biology kits and reagents.
Mount Sinai Genetic Testing Laboratory.... 1722 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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MRC-Holland.............................................. 1609 Email:
[email protected] URL: http://www.mlpa.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, tumour profiling and methylation profiling.
NanoString Technologies, Inc..................... 111 Email:
[email protected] URL: http://www.nanostring.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 highly-multiplexed, direct profiling of individual molecules in a single reaction without amplification. Applications include Gene Expression, Single-Cell, miRNA and CNV.
Natera.......................................................... 1001 Email:
[email protected] URL: http://www.natera.com/ From conception to delivery, Natera is pioneering next generation accuracy and reliability with tests ranging from preimplantation genetic diagnosis for IVF to breakthrough advances in the field of noninvasive prenatal testing (NIPT). Using advances from the human genome project and powered by sophisticated proprietary bioinformatic algorithms, Natera’s comprehensive portfolio of tests, proven science, and experienced genetic counseling services deliver the most accurate results in the industry.
National Center for Advancing Translational Sciences/Genetic and Rare Diseases Information Center (NIH) ................................... 2417 Email:
[email protected] URL: http://rarediseases.info.nih.gov
National Center for Biotechnology, National Library of Medicine, National Institutes of Health.......................................................... 2405 Email:
[email protected] URL: http://www.ncbi.nlm.nih.gov/ NCBI provides free access to biomedical, molecular, literature and medical genetics databases including PubMed, Genome, Gene, Nucleotide, Protein, dbSNP, ClinVar, and MedGen. It also provides analytical tools for sequence alignment (BLAST, microbial genomes and 16S databases are available), structure comparison (VAST), exon and variation mapping (Splign, Variation Reporter, and Remap).
National Human Genome Research Institute....................................................... 2009 URL: http://www.genome.gov NHGRI, an international leader in genomics research, develops resources, technologies, and policies for advancing genomics and its application to improving human health. NHGRI, a part of the National Institutes of Health, also supports the training of investigators and the dissemination of genomic knowledge to the public and to health professionals.
Nature Publishing Group........................... 1503 Email:
[email protected] URL: http://www.nature.com Nature Publishing Group brings you leading scientific and medical research. The NPG portfolio combines the continued excellence of Nature, its associated research and review journals, and 50 leading academic and society journals in the life, physical and clinical sciences. Visit Stand no: 1503 for free sample copies.
NBSTRN/NCC............................................. 1906 Email:
[email protected] URL: 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 at NCC/NBSTRN Booth 1906.
EXHIBITORS
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216 EXHIBITORS New England Biolabs, Inc.......................... 2023 Email:
[email protected] URL: http://www.neb.com New England Biolabs, Inc. leads the industry in the discovery and production of enzymes for molecular biology applications, including library 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.
NGLY1.org................................................... 1905 Email:
[email protected] URL: http://ngly1.org NGLY1.org is a 501(c)(3) non-profit organization dedicated to eliminating the challenges of N-glycanase deficiency through research, awareness and support.
NIH Common Fund..................................... 2005 Email:
[email protected] URL: http://commonfund.nih.gov/ The intent of NIH Common Fund programs is to provide a strategic and nimble approach to address key roadblocks in biomedical research that impede basic scientific discovery and its translation into improved human health. In addition, these programs capitalize on emerging opportunities to catalyze the rate of progress across multiple biomedical fields.
Norgen Biotek Corp................................... 1020 Email:
[email protected] URL: http://www.norgenbiotek.com 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.
Novogene Bioinformatics Technology Co., Ltd................................................................ 1725 Email:
[email protected] With the commitment of Providing Advanced Genomic Solutions, Novogene Bioinformatics Technology Co., Ltd is equipped with cutting-edge high-throughput sequencing platforms and powerful computing facilities. Our customers are all over around the world, which includes business areas from universities, research institutes, hospitals, and pharmaceutical enterprises. = First time exhibitor Shaded = Meeting Supporter
Omega Bio-Tek, Inc.................................... 2416 Email:
[email protected] URL: http://www.omegabiotek.com Omicia......................................................... 1920 Email:
[email protected] URL: http://www.omicia.com Omicia’s OpalTM variant interpretation and reporting software provides users with automated workflows to quickly derive clinically-relevant insights for NGS testing and translational research. Researchers and clinicians use Opal to identify the genetic basis of conditions ranging from rare disease to cancer to improve disease management and medical outcomes.
OMIM - McKusick-Nathans Institute of Genetic Medicine........................................ 2102 Email:
[email protected] URL: http://omim.org Online Mendelian Inheritance in Man (OMIM) OMIM is an online compendium of descriptions of human genetic phenotypes and genes curated by staff at the McKusick-Nathans Institute of Genetic Medicine.
ORPHANET................................................. 1902 Email:
[email protected] URL: http://www.orpha.net Orphanet (www.orpha.net) endeavors to provide the community at large with a comprehensive and qualitative set of information and data on rare diseases and orphan drugs in order to contribute to the improvement of the diagnosis, care and treatment of patients with rare diseases.
Otogenetics Corporation........................... 2418 Email:
[email protected] URL: http://otogenetics.com Otogenetics is a privately-held company headquartered in the greater Atlanta area and provides highquality products and services for the applications of next generation sequencing. Otogenetics is fully GLP compliant and is CLIA, Illumina and Agilent certified.
EXHIBITORS 217
Oxford Gene Technology........................... 1409 Email:
[email protected] URL: http://www.ogt.com
Path-Tec...................................................... 1124 Email:
[email protected] URL: http://path-tec.com
Oxford Gene Technology provides world-class genetics solutions to leading research institutions worldwide. Our integrated product portfolio enables accurate identification of the causative variation underlying genetic disease. Visit to learn more about high quality Cytocell FISH probes, myProbes® custom FISH probes, SureSeq™ Next Generation Sequencing (NGS) panels, and CytoSure™ microarray products.
Path-Tec has been delivering innovative specimen and client management solutions since 2005, and we understand the challenges that laboratories encounter with their pre-analytical processes. Our solutions include supply and kit management, inventory management, specimen and supply logistics, and client management technology.
Oxford University Press............................. 1502 Email:
[email protected] URL: http://www.oup.com/us
Pathway Genomics.................................... 2207 Email:
[email protected] URL: http://www.pathway.com
Oxford University Press publishes some of the most respected genetics books and journals in the world, including Human Molecular Genetics. Our booth will feature new editions of Reardon THE BEDSIDE DYSMORPHOLOGIST and Stevenson HUMAN MALFORMATIONS AND RELATED ANOMALIES, as well as the rest of OUP’s leading list in genetics.
Pathway Genomics is a clinical diagnostic and technology company that specializes in hereditary cancer, pharmacogenomic, and lifestyle genomic testing. Pathway Genomics’ number one goal is to raise awareness and provide education about genomics and genetic testing, while providing affordable and superior testing to all patients who may benefit. For more about Pathway Genomics, visit www.pathway. com.
Oxford Nanopore Technologies Ltd.......... 2225 Email:
[email protected] URL: http://www.nanoporetech.com
PC PAL........................................................... 418 Email:
[email protected] URL: http://www.pcpal.eu
Oxford Nanopore Technologies® is developing a new generation of nanopore-based electronic systems for analysis of single molecules, including DNA, RNA and proteins.
PC PAL, an international medical software company, presents PedigreeXP an intuitive and unique pedigree charting software. This interactive drawing tool facilitates the recording and interpretation of pedigrees and offers a wide range of features. PC PAL also provides modules for integration into medical records. More information: www.pedigreexp.com
Pacific Biosciences...................................... 907 Email:
[email protected] URL: http://www.pacificbiosciences.com/ Single Molecule, Real-Time (SMRT®) Sequencing technology from Pacific Biosciences delivers the industry’s highest consensus accuracy over the longest average read lengths, and exhibits the least degree of bias, providing access to the full spectrum of genetic variation and the most comprehensive view of human genomes.
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. = First time exhibitor Shaded = Meeting Supporter
Jabrehoo is the pioneer and leader in providing comprehensive and integrated NGS services for the ART Centres in China. Our range of products and services includes equipment, consumables, diagnostic reagents and medical bioinformatics platform. Currently, over 90% of the NGS based PGS/PGD results were provided and supported by Jabrehoo.
EXHIBITORS
Partek Incorporated..................................... 410 Email:
[email protected] URL: http://www.partek.com
Peking Jabrehoo Med Tech Co., Ltd........ 2415 Email:
[email protected] URL: http://www.jabrehoo.com
218 EXHIBITORS PerkinElmer, Inc. Life Sciences & Technology.................................................. 2426 Email:
[email protected] URL: http://www.PerkinElmer.com PerkinElmer is a global leader focused on improving human and environmental health, for the better. Our innovative and integrated detection, imaging, software, reagents and services solutions are accelerating discovery in core areas of research including epigenetics, genomics, cellular research, quantitative pathology, in vivo imaging, biotherapeutics and informatics
Personalis, Inc.............................................. 319 Email:
[email protected] URL: http://www.personalis.com Personalis, provider of the Accuracy and Content Enhanced (ACE) Platform, is an advanced genomic services company providing the most accurate and comprehensive solutions for inherited disease and cancer. We perform whole human genome and exome sequencing for RUO and CLIA projects, utilizing manually-curated databases, human reference sequences, and sophisticated algorithms.
Pfizer.............................................................. 815 Email:
[email protected] URL: http://www.pfizer.com PhenX Toolkit.............................................. 2403 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 21 research domains and tools to help investigators integrate PhenX measures into their studies, and to identify opportunities for cross-study analysis.
PLOS............................................................ 1804 Email:
[email protected] URL: http://www.plos.org PLOS (Public Library of Science) is a nonprofit Open Access publisher, innovator and advocacy organization dedicated to accelerating progress in science and medicine by leading a transformation in research communication. The PLOS suite of influential journals contain rigorously peer-reviewed Open Access research articles from all areas of science and medicine.
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Premaitha Health........................................ 1707 Email:
[email protected] URL: http://www.premaitha.com Premaitha Health is a molecular diagnostics company employing Next Generation Sequencing technology to develop, manufacture and sell molecular diagnostic products intended to have major beneficial impacts on human health. The IONA® test is the first non-invasive in vitro diagnostic product for prenatal screening, enabling clinical laboratories to perform NIPT in-house.
PreventionGenetics LLC............................ 2105 Email:
[email protected] URL: 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 1200 genes. Our experienced team of geneticists provide fast turnaround times, personalized service and the highest quality testing at the lowest prices possible. PreventionGenetics is CLIA/CAP accredited.
Progeny Software, LLC.............................. 2115 Email:
[email protected] URL: http://www.progenygenetics.com Progeny is now offering a fully pre-configured, cloud-based application for a nominal fee. Featuring unlimited users, integrated risk modeling with leading risk algorithms, patient screening, triage family history questionnaires, and ability to integrate with your EMR. User Interface is vastly improved including a new iPad App. Stop by booth 2115.
Promega Corporation.................................. 611 Email:
[email protected] URL: http://www.promega.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.
EXHIBITORS 219
Q Squared Solutions.................................. 1403
[email protected] http://www.Q2LabSolutions.com
Quanta BioSciences, Inc............................ 1525 Email:
[email protected] URL: http://www.quantabio.com
Q Squared Solutions is a new laboratory services joint venture combining Quintiles scale, clinical trial expertise and diverse therapeutic experience with Quest Diagnostics operational, scientific and quality excellence, supply-chain network and informatics capabilities. We help customers improve human health through innovation that transforms science and data into actionable medical insights.
At Quanta BioSciences our goal is simple - to provide best-in-class qPCR reagents enabling sophisticated applications in life science and drug discovery laboratories throughout the world. Our real time PCR and cDNA synthesis reagents define the standard for the reproducibility, specificity and sensitivity needed by researchers using these techniques.
QIAGEN Bioinformatics............................. 1622 Email:
[email protected] URL: http://qiagenbioinformatics.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.
QIAGEN Inc................................................. 1621 Email:
[email protected] URL: http://www.qiagen.com QIAGEN offers you the industry’s most reliable sample technologies, because samples matter to your success. Our top-quality assays and panels enable you to accurately analyze and identify diseases and genetic variations. Our bioinformatics software and curated knowledge bases transform your raw data into relevant, actionable findings. Sample to Insight.
QualiGene.................................................... 2423 Email:
[email protected] URL: http://www.qualigene.co.il QualiGene promotes quality in molecular genetic testing by providing external proficiency testing (PT) schemes (technique-specific as well as disease-specific programs) to participating laboratories. In addition we offer our DNA sample col-lection as a source of positive controls. Recently QualiGene developed PGDlight - an easy to use, standardized and validated PGD kit and service, for STR-based haplotype analysis in a variety of genes.
RainDance Technologies, Inc.................... 2214 Email:
[email protected] URL: http://www.RainDanceTech.com RainDance Technologies is making complex genetics simple. The company’s ultra-sensitive genomic tools enable research of novel non-invasive liquid biopsy applications that should result in more accurate, reliable, cost-effective, and early detection of cancer and other inherited and infectious diseases.
Randall Children’s Hospital....................... 2317 Randall Children’s Hospital, a teaching facility and regional leader in providing care to infants, children and teens in Portland and the Pacific Northwest. RCH is one of Oregon’s largest providers of pediatric inpatient and trauma services. The medical staff of more than 600 physicians, includes pediatric medical and surgical specialists, sub-specialists, hospitalists and community pediatricians.
Raptor Pharmaceuticals............................ 2203 Email:
[email protected] URL: http://www.raptorpharma.com Raptor Pharmaceuticals is a global biopharmaceutical company focused on the development and commercialization of life-altering therapeutics to treat rare, debilitating and often fatal diseases. The company is engaged in multiple therapeutic areas such as nephropathic cystinosis, Huntington’s disease, NASH, Leigh syndrome and other mitochondrial diseases.
Rare Disease Communications ................ 2230 Email:
[email protected] URL: http://www.rdr.com
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EXHIBITORS
Rare Disease Communications is a healthcare communications and media company focused on the rare disease community. Our goal is to raise awareness of rare diseases and orphan drugs so patients will be diagnosed and treated more efficiently. Our flagship website, Rare Disease Report™, and various news sources are seen and shared by physicians, nurses, patients, patient advocates, scientists, and regulators.
220 EXHIBITORS Regeneron Genetics Center........................ 117 Email:
[email protected] URL: http://www.regeneron.com
Sage Science Inc........................................ 1016 Email:
[email protected] URL: http://www.sagescience.com
Known for its scientific and operational excellence, Regeneron is a leading science-based biopharmaceutical company that discovers, invents, develops, manufactures, and commercializes medicines for the treatment of serious medical conditions. Regeneron markets medicines for eye diseases, colorectal cancer, and a rare inflammatory condition and has product candidates in development in other areas of high unmet medical need, including hypercholesterolemia, oncology, rheumatoid arthritis, allergic asthma, and atopic dermatitis.
Sage Science provides products that streamline sample prep upstream of next-gen sequencing and protein mass spectrometry. The company’s products feature proprietary electrophoresis and electro-elution technologies that replace gel-purification or in-gel digestion. Featuring the PippinTM and SageELFTM systems, users define size-selection parameters with software and collect sample fractions in buffer.
Roche Diagnostics Corporation............... 1015 Email:
[email protected] URL: http://www.roche.com/ Roche offers an extensive portfolio of genomic technologies to support translational research. Solutions like NimbleGen target enrichment for Next Gen Sequencing, the LightCycler 96 system for qPCR, and the MagNA Pure 96 system for automated nucleic acid isolation help make research decisions and laboratory processes easier, faster and more productive.
RUCDR Infinite Biologics............................. 517 Email:
[email protected] URL: http://www.rucdr.org RUCDR, a world leader in global biobanking and bioprocessing of biospecimens, supports the bioscience research community by providing comprehensive solutions in sample preparation, genetic, gene and cell-based services, bioinformatics and biostorage. Using a state-of-art infrastructure and the highest quality biomaterials, our scientists work to convert precious biosamples to renewable resources.
RURO Inc..................................................... 1721 Email:
[email protected] URL: http://www.ruro.com RURO, Inc. brings our partners the most modern solutions for their information management needs. RURO systems decrease staff time requirements for data entry, compilation and reporting by an average of a third, and reduce user input errors by up to 97%. For sample management, LIMS or ELN, RURO is Laboratory Information Bliss.
Sapio Sciences LLC................................... 1126 Email:
[email protected] URL: http://www.sapiosciences.com Sapio Sciences Exemplar family of products includes LIMS, Electronic Lab Notebook (ELN), Scientific Data Management and Knowledge Management in the most configurable and flexible solution available. Exemplar products incorporate Sapio leading workflow technology that enables rapid implementation of detailed processes within Exemplar. Sapio’s web based products are used in research and clinical settings.
SCC Soft Computer.................................... 1614 Email:
[email protected] URL: http://www.softcomputer.com The worlds largest LIS vendor, SCC Soft Computer is at the forefront of laboratory, genetics, outreach, and blood services information systems software development. Committed to supplying innovative technologies, SCC designs, develops, and delivers full suites of integrated laboratory and genetics information management system solutions for hospitals, large IDNs, and laboratories.
Science/AAAS............................................... 720 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.
Scion Publishing Limited........................... 2324 Email:
[email protected] URL: http://www.scionpublishing.com We publish the innovative, case-based textbook New Clinical Genetics by Andrew Read and Dian Donnai. Please visit our stand to see the new 3rd edition which has been comprehensively updated to reflect the widespread use of whole-genome technologies.
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Seven Bridges Genomics ......................... 2131 Email:
[email protected] URL: http://www.sbgenomics.com
Sistemas Genomicos................................... 320 Email:
[email protected] URL: http://www.sistemasgenomicos.com
Seven Bridges Genomics is the cloud-powered platform for population-scale bioinformatics. Researchers conduct interactive and automated analysis reproducibly and at scale. Seven Bridges is used by biotechnology and pharmaceutical companies and national governments. Seven Bridges is the only bioinformatics company to operate at national scale in both the US and UK.
Specializing in research and diagnosis, we are committed to making available the latest molecular analysis technologies and scientific advances to every patient. We provide over 1700 genetic tests, including our multigene panel range GeneProfile® and about 90 diagnosis SG kits®as well as GeneSystems a user-friendly bioinformatics analysis platform.
SGI-DNA, A Synthetic Genomics Inc. Company..................................................... 2327 Email:
[email protected] URL: http://www.sgidna.com SGI-DNA, a Synthetic Genomics, Inc Company (SGI), was founded in 2013 and is headquartered in La Jolla, CA. Building on the scientific advancements and breakthroughs from leading scientists such as J. Craig Venter, Hamilton Smith, and Dan Gibson, SGI-DNA provides powerful and versatile tools for molecular biology and genomics applications.
Shire............................................................... 619 URL: http://www.shire.com
Shire enables people with life-altering conditions to lead better lives. Our strategy is to focus on developing and marketing innovative specialty medicines to meet significant unmet patient needs. We provide treatments in Neuroscience, Rare Diseases, Gastrointestinal, and Internal Medicine and we are developing treatments for symptomatic conditions treated by specialist physicians in other targeted therapeutic areas, such as Ophthalmology.
SimulConsult, Inc....................................... 2109 Email:
[email protected] URL: http://www.simulconsult.com
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Featuring NextGENe software for analysis of all NGS data now including CNV, HLA, and Somatic 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.
SolveBio...................................................... 2218 Email:
[email protected] URL: http://www.solvebio.com SolveBio provides data infrastructure for genomics. We deliver complex genomic reference datasets to hospitals, genetic testing companies, and R&D organizations. We ensure that the data is clinically relevant, updated, licensed, standardized, normalized, and always available. We are based in New York and backed by leading life sciences and technology investors.
Sophia Genetics......................................... 2217 Email:
[email protected] URL: http://www.sophiagenetics.com Sophia Genetics
Springer....................................................... 1602 Email:
[email protected] URL: http://www.springer.com Looking to publish your research? Discover our print and electronic publication services, including open access to 500+ journals through BioMed Central and SpringerOpen! Get high-quality review, maximum readership, rapid distribution. Visit our booth or springer.com/authors. You can also browse key titles and buy (e)books at discount prices.
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SimulConsult™ licenses the Genome-Phenome Analyzer® to labs and clinicians to do fast, reliable genome interpretation and reporting in the clinical context, in a hypothesis independent way. Also offered are phenotypic information collection tools integratable with EHRs and laboratory requisition systems, and able to generate robust letters of medical necessity.
SoftGenetics, LLC........................................ 906 Email:
[email protected] URL: http://www.softgenetics.com
222 EXHIBITORS Station X........................................................ 921 Email:
[email protected] URL: http://www.stationxinc.com Station X’s product, GenePool, is an enterprise genome information management system that allows organizations to access, integrate, distribute and manage their clinical genomic information more efficiently and effectively.
Strand Life Sciences.................................... 205 Email:
[email protected] URL: http://www.strandls.com Strand Life Sciences is a global genomic profiling company aimed at empowering cancer care. For 15 years, Strand’s genomics products and solutions have facilitated the work of leading researchers, toxicologists, and medical geneticists in over 2,000 laboratories and 100 hospitals worldwide. Strand Centers provide end-to-end solution from analysis to reports.
Streck.......................................................... 2208 Email:
[email protected] URL: http://www.streck.com Streck is an industry leader in the development of laboratory products including a rapid real-time thermal cycler that can perform PCR in as little as 20 minutes, PCR tubes, and kits for resistance detection. Also available are blood collection tubes that standardize methods for sample collection, stabilization and transportation.
Sunquest Information Systems, Inc............ 218 Email:
[email protected] URL: http://www.sunquestinfo.com Sunquest delivers market-leading diagnostic information technology and outreach solutions, designed and implemented to fulfill the business objectives of today’s healthcare leaders.
Swift Biosciences, Inc................................ 1809 Email:
[email protected] URL: http://www.swiftbiosci.com Swift Biosciences provides innovative technologies and sample prep kits for NGS and genomics. AccelNGS® products streamline traditional workflows for library preparation. Accel-Amplicon™ panels provide detection of cancer samples and other disease states. We specialize in unique applications and difficult samples, specifically cfDNA and FFPE, with inputs at low picogram levels.
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SYGNIS BIOSCIENCE GmbH & Co. KG.... 2019 Email:
[email protected] SYGNIS is a German-Spanish stocklisted company devoted to the development of superior tools for molecular biology that will change the way genomic research is done. SYGNIS newest product lines are TruePrime, focused on the amplification of DNA and RNA for NGS, and SunScript, an extremely thermostable and fast reverse transcriptase.
Tecan........................................................... 1708 Email:
[email protected] URL: http://www.tecan.com Tecan is a leading global provider of laboratory instruments and solutions in biopharmaceuticals, forensics and clinical diagnostics. The company specializes in the development, production and distribution of automated workflow solutions for laboratories in the life sciences sector. Its clients include pharmaceutical and biotechnology companies, university research departments, forensic and diagnostic laboratories. As an original equipment manufacturer (OEM), Tecan is also a leader in developing and manufacturing OEM instruments and components that are then distributed by partner companies.
Technidata................................................... 1128 Email:
[email protected] With over 40 years’ experience in the field of laboratory management, Technidata has become one of the leading global software suppliers for Clinical, Anatomic Pathology and Genetics laboratory information systems (LIS). Developed in compliance with ISO 9001/ISO 13485 quality standards, TECHNIDATA software is distributed in more than 25 countries.
Tethis Lab Inc................................................ 315 Email:
[email protected] URL: http://www.tethis-lab.com Tethis’ Automated System performs all the major steps involved in FISH slide preparation. This standardization minimizes potential human error, allowing the FISH technologist to optimize their work, leaving more time for higher value laboratory practices. Also, the Tethis system reduces the amount of “working” probe down to 0.7ul.
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The Jackson Laboratory.............................. 221 Email:
[email protected] URL: http://jaxmice.jax.org The Jackson Laboratory (www.jax.org) is an independent, nonprofit biomedical research institution and National Cancer Institute-designated Cancer Center with more than 1,500 employees. Headquartered in Bar Harbor, Maine, it has a facility in Sacramento, Calif., and a new genomic medicine institute in Farmington, Conn. Its mission is to discover precise genomic solutions for disease and empower the global biomedical community in the shared quest to improve human health. Founded in 1929, the Laboratory applies its eight decades of expertise in genetics to increase understanding of human disease, advancing treatments and cures for cancer, neurological and immune disorders, diabetes, aging and heart disease. It models and interprets genomic complexity, integrates basic research with clinical application, educates current and future scientists, and empowers the global biomedical community by providing critical data, tools and services.
Theragen Etex ............................................ 2035 Email:
[email protected] URL: http://www.theragenetex.com Theragen Etex is specialized a genomics company developing innovative diagnosis tools and new drugs using genomic and bioinformatics technologies. We provide genome-based customized research services such as Whole Genome, Exome, Transcriptome, and Epigenome. In addition, we have a personal genome service that screens for disease susceptibility, physical traits, drug sensitivity, and more.
Thermo Fisher Scientific............................ 1415 Email:
[email protected] URL: http://www.lifetechnologies.com Thermo Fisher Scientific is the world leader in serving science. Our mission is to enable our customers to make the world healthier, cleaner and safer. Through our Thermo Scientific, Applied Biosystems, and Invitrogen brands, we offer an unmatched combination of innovative technologies, purchasing convenience and support.
The University of Chicago Genetic Services Laboratory offers state-of the-art DNA diagnostic services, with a focus on rare orphan diseases. Available testing options include whole exome sequencing, and panel testing for a wide array of disorders including intellectual disability, epilepsy, microcephaly, ataxia, and hereditary cancer.
Thomson Reuters....................................... 1523 Email:
[email protected] URL: http://lifesciences.thomsonreuters.com/ 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.
Transgenomic, Inc...................................... 2127 Email:
[email protected] URL: http://www.transgenomic.com Transgenomic, Inc. is a global biotechnology company advancing personalized medicine in oncology, cardiology, and inherited diseases through advanced diagnostic technologies. The company also provides specialized clinical and research services to biopharmaceutical companies developing targeted therapies. Transgenomic sells equipment, reagents, and other consumables for applications in molecular testing and cytogenetics.
Trinean......................................................... 2027 Email:
[email protected] URL: http://www.trinean.com Trinean produces QC platforms for droplet analysis of DNA/RNA samples, extracting accurate quantitative information and simultaneous identification of contaminating constituents. The XposeTouch & Go reader and plate-based DropSense96 use microfluidic sample carriers allowing sample preservation and standardized read-out. A software toolbox is provided for automation or regulated labs.
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The University of Chicago Genetic Services....................................................... 1618 Email:
[email protected] URL: http://dnatesting.uchicago.edu
224 EXHIBITORS TTP Labtech.................................................. 704 Email:
[email protected] URL: http://www.ttplabtech.com TTP Labtech is world leader in the design and development of automated instrumentation and consumables for life science applications. We offer a range of automated liquid handlers (mosquito, dragonfly) for low-volume, accurate, true positive displacement pipetting. Target applications include NGS, PCR, cloning and other molecular biology techniques.
Tute Genomics............................................ 1807 Email:
[email protected] URL: http://www.tutegenomics.com Informatics. Information. Insights. Tute Genomics delivers the complete informatics infrastructure and genomics expertise needed by health systems and clinical laboratories to increase diagnostic rates, shorten turnaround times, and scale precision, genome-guided medicine operations. To learn more please visit www.tutegenomics.com and follow us on twitter @TuteGenomics.
UAB Medical Genomics Laboratory......... 2424 Email:
[email protected] URL: http://www.genetics.uab.edu/medgenomics The UAB Medical Genomics Laboratory (MGL) provides sensitive, comprehensive, reliable and costeffective testing to help with early and accurate diagnosis of genetic disorders. The MGL has a special focus on and expertise in all forms of the neurofibromatoses, the rasopathies and tuberous sclerosis.
UCLA Clinical Genomics Center................. 620 Email:
[email protected] URL: http://www.pathology.ucla.edu/genomics The UCLA Clinical Genomics Center offers clinical exome sequencing (CES), genetic counseling and expert interpretation by our Genomic Data Board. CES is just part of an extensive menu of genetic and genomic testing for hereditary disorders, cancer diagnosis/management, and other conditions, which are all performed within our CLIA-certified and CAPaccredited Molecular Diagnostics Laboratories. Other available techniques include Sanger sequencing, FISH, and chromosomal microarray for both postnatal evaluation and neoplastic conditions.
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University of Maryland Baltimore, Institute for Genome Sciences...................................... 2319 Email:
[email protected] URL: http://www.igs.umaryland.edu/ The Institute for Genome Sciences applies genomic tools to medicine, agriculture, environmental science, and biodefense. The IGS Genomics and Informatics Resource Centers offer cutting-edge sequencing and analysis services. We use multiple sequencing platforms, and customized assembly, annotation, variant detection, and comparative analysis pipelines to deliver the highest quality ‘omics data.
WaferGen Biosystems................................ 1027 Email:
[email protected] URL: http://www.wafergen.com WaferGen Bio-systems, Inc. is a NGS Pre-Sequencing technology provider. Our technology can be applied to cancer, reproductive and genetic health. WaferGen has developed and is commercializing a suite of products that address the full spectrum of needs pre- and post-NGS, and enable NGS to be more accurate, faster and cost-effective.
Wiley............................................................ 1505 Email:
[email protected] URL: http://www.wiley.com Wiley is a global provider of knowledge and knowledge-enabled services that improve outcomes in areas of research, professional practice, and education. Visit www.wiley.com for more information.
Wolters Kluwer Health............................... 2125 Email:
[email protected] URL: http://www.lww.com Wolters Kluwer Health is a global provider of information, business intelligence and point-of-care solutions for the healthcare industry, including: Lippincott Williams & Wilkins a leading international publisher of medical books, electronic media, journals and Ovid, online information search. We offer specialized publications and software for physicians, nurses, students and clinicians.
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WuXi NextCODE........................................... 707 Email:
[email protected] URL: http://www.nextcode.com We provide the worlds leading system for analyzing and interpreting genomic big data. Combined with CLIA sequencing, unrivaled informatics for diagnostics and large-scale discovery, and comprehensive product development, we turn sequence data into better medicine. Stop by and give us your genomics challenge.
Zymo Research Corporation..................... 2326 Email:
[email protected] URL: http://www.zymoresearch.com 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.
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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 2015 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 American College of Medical Genetics and Genomics 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 31.5 AMA PRA Category 1 Credits™. 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 Friday, October 9, 2015. The deadline to submit your request is Tuesday, December 1, 2015. 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 (ABMGG) will accept CMEs for MDs, MD/PhDs, PhDs, or DOs 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 31.00 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 302. 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 P.A.C.E.® credits is Tuesday, December 1, 2015. No requests will be taken after this date.
CMEs and CEUs
For questions, contact
[email protected].
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Clinical Laboratory Scientists should apply for P.A.C.E. CEUs. ABMG will accept P.A.C.E. CEUs for diplomats participating in the MOC program in the following categories: Clinical Biochemical Geneticist, Clinical Cytogeneticist, and Clinical Molecular Geneticist. Continuing Education Unit Credits (CEUs) for Genetic Counselors ASHG has been approved for up to 31.0 Category 1 CEU credits (31.00 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 $35 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 Friday, October 9, 2015. The deadline to request credits is Tuesday, December 1, 2015. 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 2015 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 2015 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.
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ASHG 2015 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 and Plenary Symposia The 2015 program is highlighted by 20 invited scientific sessions that have been scheduled over two concurrent time periods. The Program Committee reviewed 73 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. In addition, there are three invited symposia throughout the meeting: A Distinguished Speakers Symposium, a Presidential Symposium and a joint ASHG/ESHG Building Bridges Symposium. These symposia and invited 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: Wednesday from 9:50-10:30 am (two abstracts) Featured Presentation II: Saturday from 8:55-10:15 am (four abstracts) Platform Sessions (abstract-driven) Forty-eight abstract-driven platform sessions totaling 384 oral presentations have been programmed. There are six sets of eight concurrent platform sessions.
CMEs and CEUs
• 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. • 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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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, each 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. 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. 4. The top-scoring abstracts from each topic were then considered by the Program Committee for possible inclusion in the plenary sessions. Selection of plenary session 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 sessions. 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 384 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 2015 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 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 who 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 conflict of interest 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
232 SPEAKER AND AUTHOR DISCLOSURES 11. Advisor 12. Collaboration 13. Company owner 14. Receipt of travel grants/honoraria 15. Other • If a presentation is in a platform session, the abstract number is added in parentheses. • Disclosures will also be included in presentation slides. PC=Program Committee; SI=Social Issues Committee; IE=Information and Education Committee; S=Staff; SR=Slide Review Committee Committee Member Conflicts
Bianchi, Diana (SI): Illumina, 5 Butte, Atul (IE): NuMedi, 1; Personalis, 1; Carmenta, 1 Enns, Greg (PC), Edison Pharm, 2; Biomarin, 2; Hegde, Madhuri (PC): Ingenuity, 11; Oxford Gene Technology, 11 Higgins, Anne (PC): Quest Diagnostics, 5 Klein, Ophir (PC): Edimer Pharm, 2 McCarthy, Mark (PC): Pfizer,2;Roche, 2; Eli-Lilly, 2; Astrazeneca, 2; Sanofi, 2 Ponting, Chris (PC): ELife Sciences Publications, Ltd, 3
Committee Members with No Conflicts to Disclose The following is an alphabetical list of program providers who had no relationship to disclose. Akey, Joshua (PC) Anderson, William (S) Antonellis, Anthony (PC/SR) Avramopoulos, Dimitrios (PC) Balkite, Elizabeth (IE) Bianchi, Diana (SI) Bodurtha, Joann (PC/SR) Bombard, Yvonne (SI) Bonham, Vence (SI) Bowling, Bethany (IE) Butte, Atul (IE) Carroll, June (IE) Chen, Yimang (S) Cody, Jannine (IE) Doucet, John (IE) Dougherty, Michael (S) Garrison, Nanibba’A (SI)
Gelbart, Marnie (IE) Gilissen, Christian (PC) Giovanni, Monica (IE) Gunter, Chris (PC/SR) Kocarnik, Jonathan (SI) Kottoor, Vinayak (IE) Leal, Suzanne (PC) Lettre, Guillaume (PC) Levy, Howard (SI) Lontok, Katherine (S) Loos, Ruth (PC) MacArthur, Daniel (PC) McGovern, Peggi (S) McInerney, Joseph (S) Minhinnett, Pauline (S) Mortlock, Douglas (PC) O’Leary, James (SI)
Ormond, Kelly (PC/SI/SR) Ozcelik, Tayfun (PC) Park, Jeenah (IE) Plon, Sharon (PC) Province, Michael (PC) Rodriguez, Laura (SI) Scacheri, Peter (PC) Stark, Louisa (IE) Tabor, Holly (SI) Tang, Hua (PC) Weksberg, Rosanna (PC) Wolf, Brittany (S) Zhang, Hongqiang (Hubert) (S) Zhou, Wujun (S) Zwick, Michael (PC)
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Following is a list of invited and platform speakers who disclosed a commercial relationship Poster author conflicts are not listed
Addis, L., Eli Lilly - 2, 3 (65) Andolina, L. M., GeneDx - 3 (266) Baraban, S. C., BioCrea GmbH - 5 (Session 7) Bekritsky, M. A., Illumina - 3; (234) Bjornsson, H. T., Third Rock Ventures - 5; Johns Hopkins University - 10 (Session 11) Chung, W., BioReference Labs - 5 (Session 3) Downing, A., CancerIQ - 5 (Session 23) Economides, A. N., Regeneron Pharmaceuticals - 1, 3 (247) Ehm, M. G., GlaxoSmithKline - 1, 3 (133) Friedman, B. E., GeneDx - 3 (261) Harris, J., Personalis - 1, 3 (233) Heckerman, D., Microsoft - 3 (349) Helbig, K. L., Ambry Genetics - 3 (54) Henderson, L. B., GeneDx - 3 (216) Hoover-Fong, J., BioMarin - 5 (Session 79) Hurles, M., Congenica - 1, 5, 13 (188) Hyland, F. C. L., Thermo Fisher Scientific - 3 (31) Irving, M. D., BioMarin - 15; Investigator (Session 79) Isom, L. L., Zogenix - 8 (Session 7) Jaenisch, R., Fate - 1, 11; Stemgent - 11 (Session 74) Jangi, M., Biogen - 3; Isis Pharmaceuticals - 12 (56) Kermany, A. R., AncestryDNA - 1, 3 (315) Kettunen, J., Brainshake Ltd - 3, 4 (313) Kobayashi, Y., Invitae - 1, 3 (203) Lee, W., Seven Bridges Genomics - 3 (230) Listgarten, J., Microsoft Corporation - 1 (163) McCarty, C., NHGRI - 2 (Session 8)
McCoy, R. C., Natera - 10, 14 (148) Messner, D., Green Park Collaborative - 2, 3 (Session 12) Muzzey, D., Counsyl - 1, 3 (28) Naik, H., Alnylam Pharmaceuticals - 2, 5 (262) Noto, K., AncestryDNA - 3; Ancestry.com - 3 (322) Obeidat, M., Merck and Co. - 2 (72) Pickrell, J. K., 23andMe - 12 (Session 13) Raymond, V. M., Illumina - 3 (84) Reddy, T., Illumina - 14 (Session 78) Rehm, H., NIH - 2; Partners Healthcare (owns GeneInsight, LLC) - 3 (Session 8) Sathirapongsasuti, F., 23andMe - 1, 3 (339) Sebra, R., NIH - 2; Pacific Biosciences - 10 (228) Stosser, M., GeneDx - 3 (62) Stuart, J., Five3 Genomics - 1, 11, 4, 10 (Session 6) Sutton, V., NIH - 2; Osteogenesis Imperfecta Foundation - 6 (Session 79) Tousignant, R., GeneDx - 3 (208) Van Broeckhoven, C., Janssen Pharmaceutics Belgium - 12 (105) Verma, A., Regeneron Genetics Center - 5 (134) Ward, K., Juneau Biosciences - 1, 3, 4, 10 (150) Weitzel, J. N., Ambry Genetics - 12 (85) Worley, K. C., NHGRI U54 HG003273 - 2; Pacific Biosciences - 14 (232) Zondervan, K., Bayer HealthCare Ltd - 5, 12; Population Diagnostics Ltd - 12 (Session 5)
Following is an alphabetical list of invited session and platform speakers who had no relationship to disclose. Abbott, Kristin Abdallah, Khadijah Abou Tayoun, Ahmad Acuna-Hidalgo, Rocio Aggarwala, Varun Aguiar, Derek Ahituv, Nadav Alaimo, Joseph Albers, Patrick Alter, Blanche Anderson, Carl Anvar, Seyed Yahya Arnaud, Pauline Arnold, Madeline Asgari, Samira Astley, Christina Auer, Paul Ayroles, Julien Band, Gavin Barakat, Stefan Barrett, Jeffrey
Bartha, Istvan Barton, David Bastarache, Lisa Battle, Alexis Begtrup, Amber Belbin, Gillian Below, Jennifer Benson, Andrew Bhatia, Gaurav Bigos, Kristin Bihlmeyer, Nathan Birch, Patricia Blekhman, Ran Blout, Carrie Boden, Jillian Bodian, Dale Bonilla, Ximena Bouatia-Naji, Nabila Boyden, Steven Brand, Harrison Brilliant, Murray
Brown, Kim Browning, Brian Cagan, Ross Calderon, Diego Califano, Andrea Campbell, Ian Cannon, Maren Cantsilieris, Stuart Canver, Matthew Carmona-Mora, Paulina Carss, Keren Cavalli, Marco Chang, Xiao Chatterjee, Sumantra Chauhan, Rajendra Chen, Li Chen, Pei-Lung Chen, Wei-Min Chenevix-Trench, Georgia Cheng, Ying Chiang, Colby
SPEAKER/AUTHOR DISCLOSURES
INVITED SPEAKER AND PLATFORM AUTHOR CONFLICTS
234 SPEAKER AND AUTHOR DISCLOSURES Chow, Clement Christensen, Kurt Christodoulou, John Cichonska, Anna Clark, Andrew Claussnitzer, Melina Coban Akdemir, Zeynep Cohen, Andrea Cook-Deegan, Robert Coppieters, Frauke Cougnoux, Antony Craig, David Crawford, Nicholas Cruts, Marc Das, Swapan Day, Felix Denny, Josh Deverka, Patricia Di Donato, Nataliya Ding, Li diSibio, Guy Doan, Ryan Dogan, Meeshanthini Doktor, Thomas Douville, Christopher Doyle, Alexander Dukhovny, Dmitry Dyer, Michael Edelman, Hannah Edwards, Stacey Eldomery, Mohammad Elsea, Sarah Engelhardt, Barbara Erdin, Serkan Erlich, Yaniv Ernst, Carl Ernst, Jason Erwin, Jennifer Farber, Charles Faucz, Fabio Fave, Marie-Julie Fernandez, Thomas Fish, Alexandra Fox, Keolu Frebourg, Thierry Freimuth, Robert Fritsche, Lars Fuchsberger, Christian Fujimoto, Akihiro Galinsky, Kevin Gallo MacFarlane, Elena Gao, Feng Gardner, Sabrina George, Renee Gerstein, Mark Geybels, Milan Ghavimi, Shima Ghosh, Rajarshi Ghoussaini, Maya Gibbons, Richard Gilissen, Christian Gilly, Arthur Golan, David
Gonzaludo, Nina Goriely, Anne Gould, Russell Grossman, Tamar Grove, Jakob Grunseich, Christopher Gu, Shen Guimier, Anne Guo, Cong Gusev, Alexander Haendel, Melissa Hamilton-Nelson, Kara Harney, Lisa Hassold, Terry Hayeck, Tristan Hayes, D. Neil He, Max Helman, Elena Hendricks, William Hernandez, Ryan Highland, Heather Hill, Andrew Himes, Patricia Hofmann, Andrea Horikoshi, Momoko Houdayer, Claude Houge, Gunnar Hsu, Yu-Han Hsueh, Wen-Chi Hu, Yijuan Huang, Alden Huang, Hailiang Huang, Ning Huang, Taosheng Huff, Chad Hufnagel, Sophia Hung, Rayjean Hunter, David Hwang, Yih-Chii Iglesias Gonzalez, Adriana I Im, Hae Kyung Iyer, Janani Iyer, Kruthika Raman Jackson, Andrew Jaffe, Andrew Jagadeesan, Anuradha Jeremian, Richie Jiang, Deke Johnson, Matthew Johnston, Henry Jondeau, Guillaume Joshi, Ricky Kaakinen, Marika Kan, Shih-Hsin Kannan, Meghna Karyadi, Danielle Kauffman, Tia Keinan, Alon Kellis, Manolis Kho, Abel Kim, Jae Mun Kim, Yungil Klein, Christopher
Koboldt, Daniel Kohl, Susanne Komla Ebri, Davide Kong, Jianping Koolen, David Korbel, Jan Kosho, Tomoki Kosova, Gulum Krier, Joel Kumari, Priyanka Kumasaka, Natsuhiko Kundaje, Anshul Lachance, Joseph Lakhani, Chirag Lasky-Su, Jessica Lazaridis, Iosif Lee, James Lehmann, Kjong-Van Lindgren, Cecilia Liou, Benjamin Liu, Yuanjing Liu, Yuanlong Lodh, Sukanya Loh, Po-Ru Lourenco, Charles Loviglio, Maria Nicla Lu, Ake Lu, Qiongshi Luca, Francesca Luo, Yang Lynch, Danielle Lyon, Gholson Lyons, Leslie Maby, Pauline MacArthur, Daniel Madar, Aviv Mahajan, Anubha Maher, Eamonn Mansfield, Elizabeth Marchini, Jonathan Mardis, Elaine Martin, Paul Mason, Christopher Maya, Idit McGinnis, Ralph McMaster, Christopher Medina Gomez, Maria Mefford, Heather Meisler, Miriam Meltz Steinberg, Karyn Mercer, Johnathan Michailidou, Kyriaki Milan, David Minikel, Eric Mirzaa, Ghayda Mohajeri, Kiana Mohlke, Karen Mokry, Lauren Montgomery, Stephen Moore, Jill Morris, Andrew Morton, Cynthia Mosley, Jonathan
SPEAKER AND AUTHOR DISCLOSURES 235 Rebelo, Adriana Redin, Claire Reijnders, Margot Reinholdt, Laura Reymond, Alexandre Rhead, Brooke Richardson, Tom Robak, Laurie Robinson, Peter Rosenthal, Elisabeth Rowsey, Ross Rudd, Katie Russo, Melissa Sabatini, Peter Saha, Ashis Sahoo, Trilochan Salo, Perttu Salpea, Paraskevi Samocha, Kaitlin Sandor, Cynthia Sankararaman, Sriram Santos-Cortez, Regie Lyn Saris, Jasper Saunders, Gary Savarirayan, Ravi Schaffer, Ashleigh Schrauwen, Isabelle Schurmann, Claudia Schwartz, Stuart Schweiger, Regev Scollon, Sarah Scott, William Segre, Ayellet Shahni, Rojeen Shendure, Jay Shi, Jianxin Shooshtari, Parisa Shoubridge, Cheryl Sidore, Carlo Sifrim, Alejandro Silver, Maxwell Singh, Tarjinder Sirota, Marina Sleegers, Kristel Small, Kerrin Smedley, Damian Smith, Maureen Smoak, Evan Snijders Blok, Lot Snyder, Matthew Snyder, Michael Sobreira, Nara Spielmann, Malte Spracklen, Cassandra Stanley, Susan Starita, Lea
Stavropoulos, Demitri Stessman, Holly Stödberg, Tommy Sung, Yun Sunyaev, Shamil Surendran, Praveen Tatum Parker, Tatiana Taylor, Todd Tekola-Ayele, Fasil Tenenbaum, Jessica Teumer, Alexander Thauvin-Robinet, Christel Thompson, Miles Tilgner, Hagen Timpson, Nicholas Towers, Aaron Tsoi, Lam Tsosie, Krystal Tukiainen, Taru Turner, Tychele Twigg, Steve Tzika, Antigoni Uddin, Mohammed Vassy, Jason Vernon, Hilary Villani, Alexandra-Chloe Visel, Axel Vuzman, Dana Wadelius, Mia Wagnon, Jacy Walhout, Marian Wang, Gao Wang, Hao-Yi Wang, Jia-chi Waterworth, Dawn West, Kathleen Willems, Sara Willer, Cristen Wilson Sayres, Melissa Wise, Carol Wood, Andrew Wu, Ping Chun Wu, Ying Yang, Yao Yao, Huilan Ye, Chun Jimmie Yi, Ling Yong, Ed Young, Alexander Youngblom, Emily Yracheta, Joseph Yu, Haiyuan Zallen, Doris Zhang, Jinghui Zhao, Zhongming Zook, Justin
SPEAKER/AUTHOR DISCLOSURES
Mozaffari, Sahar Mudge, Jonathan Mukherjee, Semanti Mulle, Jennifer Munger, Steven Murabito, Joanne Mussa, Alessandro Musunuru, Kiran Myers, Candace Männik, Katrin Najmabadi, Hossein Nakashima, Mitsuko Narasimhan, Vagheesh Narvaiza, Inigo Nattestad, Maria Neeley, Liz Nelson, Matthew Nesbitt, Addie Neveu, Benjamin Newnham, Louise Ngun, Tuck Nicolas, Gaël Nikbakht, Hamid Niknafs, Noushin O'Hare, Elizabeth Okamura, Richard Jason Olgiati, Simone Ottini, Laura Pajukanta, Paivi Palamara, Pier Pan, Duojia Pandya, Chetanya Pankratz, Nathan Park, So Hae Park, YoSon Pasaniuc, Bogdan Pendergrass, Sarah Penton, Andrea Perry, Denise Pham, Xuan Pierce, Sarah Pirozzi, Filomena Plomp, Astrid Porter, Forbes Posey, Jennifer Potter, Huntington Povysil, Gundula Pratto, Florencia Price, Alkes Przeworski, Molly Punj, Sumit Qi, Hongjian Quintero-Rivera, Fabiola Rafferty, Kelly Raftari, Saman Rao, Suhas
236 SPEAKER INSTRUCTIONS
SPEAKER INSTRUCTIONS AND PRESENTATION GUIDELINES Speaker Ready/Presentation Uploads – Convention Center, Room 330, Level 3 Telephone: 410-649-6114 (operational Tuesday, October 6-Saturday, October 10) The speaker presentation upload room is open during the following hours
Tuesday Wednesday Thursday Friday Saturday
12:00-5:00 pm 7:30 am-5:00 pm 7:30 am-5:00 pm 7:30 am-5:00 pm 7:30 am-2:00 pm
A satellite speaker ready/presentation upload room will also be available in the Hilton Hotel, Blake Room, Level 2, for presentations taking place in the Hilton Holiday Ballrooms. 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. 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 • New this year: ASHG will set up a secure, slide-sharing website for invited and platform speakers who wish to share their slides with attendees. When uploading slides for presentation, speakers will be asked to indicate whether or not their slides may be shared. Speakers should be sure to certify that they have the necessary permissions for all slide content. • 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 it has, authors should indicate the date and publication and must address new findings since the publication.
SPEAKER AND AUTHOR DISCLOSURES 237
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 GUIDELINES
• 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. • 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/2015meeting (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.
238 SPEAKER INSTRUCTIONS • No logos on slides: To satisfy potential conflict-of-interest requirements and ACCME guidelines, no logos will be allowed on any presentation slides. • 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 ASHGapproved 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-of-interest slide.
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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 2015 website at ashg.org/2015meeting or use the search function on the itinerary builder and in the Mobile App. A Abak, A., 2642T Abbott, K. M., 128 Abdallah, K., 124 Abdelmoula, N., 2751W Abdel-Rahman, M. H., 2767W Abecasis, G. R., 628W Abedi, Z., 3096T Abedini, E., 2079F Abernethy, J., 2750T Abhyankar, A., 1921W Abiri, M., 2290F Abou Jamra, R., 2979T Abou Tayoun, A. N., 189 Abreu, J., 1887F Abul-Husn, N. S., 2258W Aceves-Aceves, M., 2431W Achilli, A., 1548T Acuna-Hidalgo, R., 192 Adam, S., 2161T Adams, A. K., 1072F Adams, C. J., 2437W Adams, D. R., 1816W Addis, L., 65 Addissie, Y., 2427F Adeyemo, A. A., 2187T Adhikari, K., 832F Agarwal, S., 2011W Aggarwala, V., 344 Agrawal, S., 2087T Aguet, F., 1702W Aguiar, D. C., 166 Ahituv, N., Session 9 Ahmad, A., 3120T Ahmad, O. S., 1309T Ahn, K., 1038T Ahn, R., 3080T Ahola-Olli, A. V., 880F Ainslie, G. R., 477T Ainsworth, H. F., 1415F Akbari, A., 1520T Akhabir, L., 1007W Akinrinade, O., 637W Akula, N., 1099F Alaimo, J. T., 288 Alakbarzade, V., 2954W AlAmr, M., 2444T Alamri, H., 2068W Albers, P., 164 Alblihy, A.Mr., 2768T Alby, C., 2539W Alexander, J., 392F Alhareeri, A., 2643W Alhariri, A., 2280F
Ali, M. M., 2419W Alkan, S., 2963W Al Kharusi, N. N., 758W Alkhateeb, A., 2902F Alla, R. K., 1947F Allen, R. J., 887W Almeida, L., 2476W Almeida de Jesus, A., 2059W Almoguera, B., 693T Al Omer, H. A., 2548W Alrukban, H., 2295T AlSaegh, A., 2769W Al-Saud, H., 1454T Alsharhan, H., 2412F Alter, B. P., 177 Alur, R. P., 2550W Alvarado, D. M., 2872F Alvarado, M., 2770T Alvarez, M., 534F Alves, M. M., 2968F Ames, N., 3103F Amin Al Olama, A., 749W Amini, S., 2771W Amirinejad, R., 1027F Amos, J., 712F Amr, K., 2139F Amster, G., 1490T An, P., 804T Anbunathan, H., 2685W Andersen, A., 406F Anderson, B. R., 847F Anderson, C. A., 201 Anderson, C. D., 548T Anderson, M., 1922T Andolina, L. M., 266 Andreoletti, G., 708T Ang Houle, A., 1591W Angione, K., 503T Anguiano, A., 2140T Angulo, A. S., 2376F Anhalt, A., 457T Ansar, M., 2882W Antaki, D., 3115F Anttila, V., 1079W Anvar, S. Y., 368 Aob, P., 1050T Apopa, P., 2569W Aran, D., 2772T Araya, C. L., 2570T Arbiza, L., 1549W Arboleda, V. A., 2960W Arezi, B., 1878F Arguello, R., 1298F Arloth, J., 1212T Armoskus, C., 1200T Arnaud, P., 209 Arnhold, I., 2947F
Arnold, M., 379 Arredondo, H. M., 1299W Artomov, M., 2773W Arts, H. H., 2874T Arts, P., 1994T Arumilli, M., 1870W Arumugam, P., 2970T Aschard, H., 1313F Asgari, S., 173 Ashar, F. N., 577W Asim, A., 538W Askapuli, A., 1546T Astley, C. M., 36 Atabaki Pasdar, N., 1280F Athanasiadis, G., 1455W Atkinson, E. G., 1514T Attanasio, S., 2862T Attie-Bitach, T., 2560W Auer, D. R., 549F Auer, P., 308 Aury-Landas, J., 2644T Austin, J., 2200F Avsar, T., 1923F Ayme, S., 506W Ayroles, J. F., Session 77 Ayub, Q., 1529W Azad, P., 3102T Azadegan Dehkordi, F., 3023W Azaiez, H., 2840W Azim, M. K., 2264F Azimi, H., 2950F
B Babajan, B., 1783W Babak, T., 456F Bacanu, S.-A., 1444T Backman, J., 686W Bademci, G., 2841T Badgeley, M. A., 1708W Bae, J., 2044W Baetens, D., 2946T Baghel, K., 2645W Bagis, H., 2493F Bagnall, R. D., 1131T Bahreini, A., 2594T Bai, H., 2014W Bai, R., 1970T Baier, L., 955F Bailey, S. D., 2630T Bailey, T. C., 2175T Bailey-Wilson, J. E., 2571W Bainbridge, M., 604W Bakay, M., 907F Baker, M. B., 3109F Bakulski, K. M., 430F
Balakrishnan, P., 911W Bale, A. E., 1975W Ballew, B. J., 2852W Balwani, M., 2309T Bamne, M. N., 3124T Bancroft, E. K., 2208F Band, G., 26 Banda, Y., 1547W Banez-Coronel, M., 1251T Bang, S., 1789W Bani-Fatemi, A., 1041T Banovich, NE., 3168T Baraban, S. C., Session 7 Barakat, S., 96 Baras, A. S., 1694T Barbosa, I. A., 2001F Barcellos, L. F., 987T Barcia, G., 2060T Barel, D., 2131F Barfield, R., 407T Barrett, J. C., Session 14 Barrie, E. S., 1205W Barseghyan, H., 3027F Bartha, I., 197 Bartlett, C. W., 1024F Barton, D., Session 3 Basel-Vanagaite, L., 2486T Basha, M., 2868T Bashti, O., 2572T Basran, R. K., 1984W Bassett, D., 1592T Bastarache, L. A., 132 Basu, M., 570F Battle, A., Session 76 Bauge, C., 2853T Baugh, E. H., 1593F Baumgartel, K. L., 1505W Bayon, B. L., 1218T Bayram, Y., 2854F Beaudet, A., 1243F Beck, C. R., 2873W Beck, N., 2474T Beck, T. F., 1944F Becker, K., 962W Beckmann, N. D., 1820T Beecham, A., 1447W Beecham, G., 1371W Begay, R. L., 608T Begtrup, A. H., 290 Begum, F., 1254W Beheshtian, M., 2934T Bekris, L., 3028T Bekritsky, M. A., 234 Belbin, G. M., 316 Belle, K. C., 1171F Below, J. E., 165 Beltran, S., 1868T Bembea, M., 2203F
Session numbers follow speaker names; abstract/poster numbers follow author names.
SPEAKER/FIRST AUTHOR INDEX
INVITED SPEAKER AND FIRST AUTHOR INDEX
240 SPEAKER AND FIRST AUTHOR INDEX Benabou, M., 1059T Benaglia, T., 1709T Benjamin, E. R., 2323T Benjamin, J. S., 507T Benner, C., 647T Bennett, R. L., 2212F Ben-Shachar, S., 2424F Benson, A., Session 75 Bentley, A. R., 727F Bercovich, D., 852T Bergsma, A. J., 2015T Berman, J., 1915W Bernard, B., 1594W Bernard, D. J., 2813W Bernhardt, B. A., 2207F Bertalan, M., 3125F Berube, J. C., 833W Bhanwer, A., 965W Bhat, G., 609F Bhatia, G., 196 Bhatia, V., 3188T Bhattacharya, R., 1914F Bhattacharya, S. K., 2517F Bhérer, C., 1479W Bhoj, E. J., 2859T Bhola, P. T., 2743W Bhuvaneshwar, K., 1758F Bi, W., 1950F Bicudo, L., 2399T Biderman Waberski, M., 2129F Bidichandani, S., 473T Bielas, S., 2959F Bigdeli, T. B., 1087F Bigos, K. L., 179 Bihlmeyer, N. A., 161 Bilow, M., 1595T Bina, P., 1198F Birch, P. H., 154 Birkenhager, R., 2686T Birnbaum, D. P., 1735W Bis, D., 2848F Bis, J. C., 1149T Biton, A., 1883T Bitoun, P., 2974F Bittencourt Piccini, A., 744T Bjork, B. C., 2551W Bjornsson, H. T., Session 11 Black, M., 966T Blanton, S. H., 714T Blekhman, R., 240 Blok, M., 2627W Blout, C. L., 258 Blue, E., 715F Blumenstiel, B., 2022F Bobadilla-Morales, L., 2520F Boczek, N. J., 2883T Boden, J., 369 Bodenhofer, U., 1288T Bodian, D. L., 263 Boles, C., 1936W Bombard, Y., 2253W Bonapace, G., 2328F Bonder, M. J., 443T Bonilla, X., 363 Booher, K. R., 393T Boon, L., 470W Boone, P. M., 2240F
Booth, KT., 2842F Borel, C., 455T Borger, D. K., 2308F Borges, M., 1596F Borjas, C., 2530F Borjigin, B., 689T Botton, M. R., 653T Bouatia-Naji, N., 307 Bouchghoul, H., 2141F Boulling, A., 3041F Bourchany, A., 2967T Bouwkamp, C. G., 2081T Boyden, S. E., 279 Boyle, E. A., 1521W Boyle, S. M., 2687W Bozinoski, M., 3065F Bradbury, A. R., 2178F Bradfield, J. P., 915T Bragagnolo, S., 2485W Bramble, M., 445T Bramlett, K., 2573W Brand, H., 50 Brar, S. K., 1582T Braverman, N. E., 2329T Bray, M. J., 2113F Breman, A., 2135F Brendal, M., 2377W Brenner, S. E., 1777W Briceno, I., 2366T Brick, K., 3193F Briggs, F. B. S., 1021F Brilliant, M., 131 Brkanac, Z., 759T Bronson, P., 706F Brown, A., 3182T Brown, A. S., 1844T Brown, B. C., 1477W Brown, C., 3167F Brown, K. H., 231 Brown, L., 1323W Brown, R., 3033F Brown, S., 2210F Browning, B. L., 82 Browning, S. R., 1550T Brownstein, C. A., 1044T Bruel, A. L., 2879W Bruestle, J., 1874T Bruggenwirth, H. T., 540F Brunelli, L., 1899F Bruun, G. H., 3068T Bryant, D. T., 1182T Bupp, C., 2384T Bureau, A., 1055W Burnichon, N., 2732T Buroker, N., 992W Burrage, L., 2325T Busby, B., 2216F Busby, G. B. J., 1515W Busch, R., 444F Buske, O. J., 1750W Bustos, B. I., 910F Bustos-Carpinteyro, A. R., 2646T Butali, A., 2869F Butkiewicz, M., 1759W Buxó-Martínez, C. J., 788W Bycroft, C., 1563W Byers, H. M., 2310F Byun, J., 1710F
C Cabral, W. A., 3010F Cadby, G., 2599W Cagan, R., Session 83 Cai, G., 2676T Calderon, D., 333 Caleshu, C., 545T Califano, A., Session 78 Callewaert, B. L., 3025F Callier, S., 2169T Camargo, M., 2647W Camilleri, A. L., 2598T Campbell, C. A., 677T Campbell, C. L., 1484T Campbell, I., 265 Campbell, P., 958F Campos-Barros, A., 2877T Canales, C. P., 2804W Canela-Xandri, O., 1275W Cannon, M. E., 73 Cano, O. D., 1966W Cantsilieris, S., 47 Canver, M. C., 374 Cao, H., 1857F, 3118T Cao, K., 2089W Cao, S., 1375T Cao, Y., 2504F Carbonetto, P., 1456T Cardenas, W., 2825W Cardinale, C. J., 1003F Carere, D. A., 1036F Carithers, L., 2195T Carlson, J. C., 1377W Carmack, C. E., 2641W Carmona-Mora, P., 116 Carpenter, M., 1888W Carrieri, D., 2180F Carroll, J. C., 2218F Carss, K. J., 278 Carter, E., 2484F Carton, C., 1102F Carvalho, B., 1711W Carvalho, E. D. F., 2536F Carvalho, M. D. F., 2774T Carvalho, S. C. S., 1943T Carvill, G. L., 2881F Casadei, S., 2628T Cassa, C. A., 1522T Cassatella, D., 726T Cassiano, J., 1985T Castaldi, P. J., 3169F Castel, S. E., 3170T Castellanos, R. Z., 1683F Castelli, E. C., 1501W Causer, V., 815W Cavalli, M., 183 Celestino-Soper, P. B. S., 2433F Cenik, C., 3076T Ceravolo, F., 2322F Cerise, J. E., 3077F Cervantes-Barragan, D. E., 2528F Cevik, M. O., 2201F Cevik, S. G., 2533F Cha, D. H., 2150T Chagnon, Y., 1057F Chambwe, N., 1457W
Chami, N., 864T Chan, E. T., 1860F Chan, S., 2525F Chan, V., 2219F Chan, Y. H., 1101T Chandler, M. R., 2574T Chandler, R. J., 489T Chandran, S., 1664T Chandrasekharappa, S., 2682T Chandratillake, G., 2090T Chang, D., 2600T Chang, F., 1924W Chang, T., 550W, 2575W Chang, X., 90 Chang, Y., 3066T Changsila, E., 483T Chao, K., 2334F Chapman, H., 2481F Charalsawadi, C., 2460F Charng, W., 2991T Charpentier, E., Session 40 Chatterjee, N., 1357T Chatterjee, S., Session 9 Chaturvedi, N., 713W Chaudhry, A., 2378T Chauhan, R. K., 215 Chavarria-Soley, G., 2965F Checkley, W., 780T Chen, B., 2342F Chen, C., 1338W, 3064T Chen, D., 2552W, 2983F Chen, D. P., 431T Chen, F., 728W, 1406F Chen, G., 716W Chen, H., 1263W Chen, J., 710W, 963T, 999T Chen, J. M., 3189F Chen, K. C., 1916T Chen, L., 387, 661T, 3126T Chen, P., 180 Chen, R., 1103W Chen, S., 1790T Chen, W., 1397F, 2688T Chen, W.-M., 345 Chen, X., 971W, 2576T Chen, Y., 916F Chenevix-Trench, G., 236 Cheney, A., 1889T Cheng, C. Y., 1335W Cheng, J., 2077W Cheng, L., 1712T Cheng, M., 1148W Cheng, Y., 294 Chennagiri, N., 1933W Cherbal, F., 2670T Chernus, J. M., 879T Cherny, S. S., 654W Cherukuri, P. F., 1493W Chesmore, K., 1486T Chetan, G. K., 2678T Cheung, Y., 1597W Chheda, H., 1574T Chhibber, A., 2903W Chi, H., 812W Chiang, C., 273 Chiang, T., 1812F Chiba-Falek, O., 1192F Chien, L., 2601W Chini, V., 704W
Session numbers follow speaker names; abstract/poster numbers follow author names.
SPEAKER AND FIRST AUTHOR INDEX 241 Cook, J. P., 1373F Cook-Deegan, R., Session 12 Cooke Bailey, J. N., 1416W Copenheaver, D., 2069T Coppieters, F., 283 Corbin, L. J., 1318T Corbitt, H., 523W Cordeiro, L., 2057T Cordell, H. J., 1392W Cornelis, M. C., 917W Corominas-Galbany, J., 1158T Corona-Rivera, A., 2512F Corradin, O., 872W Corsmeier, D., 1599F Costa, H. A., 2638T Costa, L. S. A., 2282F Costa, S. S., 2538F Costa, T. V. M. M., 409T Costain, G., 610W Costa Sa, A., 656W Coucke, P. J., 2831W Cougnoux, A. C., 248 Coupry, I., 1231F Coutelier, M., 1022W Couto, P.GP., 2691W Couture, C., 3114T Couvy-Duchesne, B., 1230T Coviello, D. A., 539T Cox, H. C., 2082F Cox, N., Session 7 Cozma, C., 2279T Craig, B. D., 1890F Craig, D. W., 12 Craig, S. J. C., 3107F Crandall, M., 2179T Crapper, L., 2912W Crawford, A. A., 640W Crawford, D. C., 511W Crawford, N. G., 357 Creamer, T. J., 3054T Crenshaw, M., 2396T Cring, M. R., 488W Cross, J. L., 2797F Cross, L. A., 2213F Crosslin, D., 679T Croteau-Chonka, D. C., 998W Cruceanu, C., 1124W Cruts, M., 106 Cruz, G. I., 1009F Cruz, P.RS., 1458T Csuy, C., 2734T Cuccaro, M. L., 1135F Cuellar-Partdia, G., 1020T Cukier, H. N., 1048F Cummings, B. B., 2931T Curtis, R., 1543W Cusmano-Ozog, K., 2521F Cutiongco de la Paz, E., 2648T Czarny-Ratajczak, M., 3011W
D D'Abate, L., 1104T Dahl, A., 1292F
Dai, H., 1600W, 2072T Dainis, A., 1917F D. Almeida, V., 2296F Dames, S., 1945W Dand, N., 888T Dang Do, A., 1215T Danial-Farran, N., 2843W Danjoh, I., 3127F Dannemiller, J., 1344W Daoud, H., 1951W Darlay, R., 805F Darnell, G., 3175F Darst, B. F., 995W Das, I., 1232W Das, J., 2603W Das, S., 271, 1278W Das, T., 2677W Das Bhowmik, A., 2913T Dasouki, M., 512T D'Auria, K. M., 2023W Davenport, E. E., 3099F Davenport, E. R., 3106T Davids, M., 2051T Davidson, B. L., Session 74 Davies, K. E., Session 41 Davis, A. R., 2045T Davis, E. E., 551T Davis, J. P., 918T Davis, L. K., 1060F Davis, M. F., 1234F Dawany, N., 2969W Day, F., 301 Daya, M., 1305W De Both, M., 1150F Deelen, P., 3184T DeGraffenreid, C. J., 2726T de Kock, L., 2715W De la Cruz Cabrera, O., 2775W de Lange, K. M., 718F Delatycki, M., 1241W De La Vega, F. M., 2649W Delledonne, M., 2733W DeLuca, D. S., 3185F De Luca, V., 685T Demeer, B., 2397F Deml, B., 2802T Demontis, D., 1067W de Munnik, S. A., 2372T Den Dunnen, J., 2155T Deneault, E., 825T De Nittis, P., 2884F Denny, J. C., Session 82 de Paor, A. C., 2170F DeRosa, B. A., 1169W de Smith, A. J., 2631W Devaney, J., 1925T Devereau, A. D., 2047W Deverka, P., Session 12 de Vries, F. A. T., 2490F Dewey, F., 3150T Dhawan, D., 2650T Dheensa, S., 2157T Diallo, A. B., 1791F Dianatpour, M., 2651W Dianzani, I., 492W Didion, J. P., 3044T Di Donato, N., 287 Diehl, E. J., 447T Di Gregorio, E., 2511F
Dinckan, N., 961F Ding, J., 1287W Ding, L., Session 6 Ding, Y., 1341W, 2095W Di Pietro, E., 2292F diSibio, G., 207 Divisato, G., 2568T Dixon, J. A., 2257W Dizier, B., 1289F Dluzen, D. F., 601W Do, R., 552F Doan, R. N., 384 Doddapaneni, H., 1821F Dogan, M. V., 93 Doheny, D. O., 2293T Doktor, T. K., 51 Dollfus, H. J., 2985T Dominguez, M., 2514F Donahue, A., 1691T Donatti, A., 641T Dong, C., 2712T Dong, J., 919F Dong, X., 1175W Donti, T., 2287T Dorschner, M. O., 1926F Doucet, T. T., 2652T Doudna, J., Session 40 Dougherty, M. L., 1487W Douville, C., 141 Dowa, Y., 2348T Downie, J. M., 1154W Downing, A., Session 23 Doyle, A., 275 Dozmorov, M., 1760T Drake, K. M., 561F Drigalenko, E., 1430F Drouet, V., 1049W Du, J., 806W Du, M., 978T Du, MJ., 2578T Du, N., 2680T Duan, Q. L., 694W Dudding, T., 839W Dueker, N. D., 789T Duerr, K. A., 1845F Duis, J., 2311T Dukhovny, D., 257 Dulik, M. C., 1971F Dumitrascu, B., 1744W Dumitrescu, L., 513F Dung, V., 2315T Dungan, J. R., 576F Duong, D. B., 1754T Duplain-Laferrière, F., 2163T Duplomb-Jego, L., 2938F Dupuis, L., 2463F Durrant, M. G., 881W Duz, M. B., 2754T Dvorakova, L., 2289T Dvoskin, R., 2193T Dwight, S., 1601T Dyer, M. A., Session 6 Dzakula, Z., 1832T Dzolang, C. K., 2445F
E East, K., 2061F Ebbert, M., 979F
Session numbers follow speaker names; abstract/poster numbers follow author names.
SPEAKER/FIRST AUTHOR INDEX
Chiong, M. D., 2263T Chiquet, B., 991F Chitayat, D., 2100T Chittoor, G., 781F Chiu, C., 1255T Chiu, Y., 1268F Cho, D., 3067F Cho, H., 2718T Cho, S., 678W, 2838T Cho, S. Y., 2689W Choi, E., 490W Choi, J., 2561W, 2637W Choi, K., 1703T Chokroborty Hoque, A., 1226W Chong, B., 541W Chong, J. X., 2860F Choquet, H., 990T Choquet, K., 1197T Choudhury, A., 1665F Chow, C. Y., 276 Chow, E., 2369T Chow, R., 2513F Christensen, K. D., 253 Christodoulou, J., 376 Chu, A. Y., 1002T Chudova, D. I., 2103F Chung, B., 2469F Chung, R.-H., 1598T Chung, S. J., 1047T Chung, W., Session 3, 1324T Chutake, Y., 464F Cibulkova, P., 2465T Cichonska, A., 77 Cieza-Borrella, C., 2595W Cirulli, E. T., 717T Claasen, A. M., 1976T Claes, K.BM., 2683W Clark, A. G., Session 77, Session 7 Clark, G. R., 2577W Clark, L., 1123F Clark, M., 2690T Clark, R. F., 2145F Clark, T., 2567W Clarke, D., 491T Clarke, G. M., 1348T Claussnitzer, M., Session 78 Clay, A., 2602T Cluzeau, C. V. M., 2820T Coban, N., 597F Coban Akdemir, Z. H., 194 Cohain, A., 598W Cohen, A. J., 239 Cohn, I., 691T Cole, J. B., 865F Cole, M. B., 408F Cole, S., 510F Coleman, C., 3085F Coll, J., 1688T Collado-Torres, L., 1704F Collins, F., Session 2 Collins, H., 2232F Collins, R. L., 1129F Colovati, M. E. S., 2531F Comuzzie, A. G., 1435T Connolly, J. J., 1084F Conomos, M., 1304F Conti, D., 1359W Contreras, A. V., 655T
242 SPEAKER AND FIRST AUTHOR INDEX Eberle, M. A., 1252F Eboreime, J., 2924W Ebrahimi, A., 2832T Ebrahimi, D., 2692T Ecevit, A., 2400F Echevarria, L., 2343T Echwald, S. M., 2028F Eckart, N., 1201F Economides, A. N., 247 Edelman, E., 2241F Edelman, H. E., 121 Edwards, K. L., 977W Edwards, S., 5 Edwards, T. L., 889F Ehm, M. G., 133 Eicher, J. D., 596T Eichler, F. S., 502W Eid, M. M., 2349F Eid, O. M., 2727W Elango, R., 1788F El-Bassyouni, H., 2350W El Boueiz, A., 890W Eldomery, M. K., 282 El-Hattab, A. W., 2327T Elhauge, E., 2604T Eliade, M., 2776T Elias, A. F., 1977F El-Kamah, G. Y., 2247W Ellingford, J. M., 1991T Ellinghaus, D., 920W Ellis, S., 1106W Elman, M. S., 1350W El Rouby, N., 665T Elsea, S. H., Session 11 El-Shanti, H., 1105F Elston, R. C., Session 7 Emamalizadeh, B., 1028W Emami, N., 2579W Eng, C., 1952T Engel, S. R., 1872F Engelhardt, B. E., 221 Enomoto, Y., 2392W Eppig, J. T., 1871T Epping, M. W., 2819W Epstein, M. P., 1256F Erdin, S., 372 Erickson, S. W., 2605W Eriksson, N., 591F Erlich, Y., 335 Ernst, C., 284 Ernst, J., 367 Erwin, J. A., 46 Eslami, A., 453T Esparza Gordillo, J., 870T Esposito, T., 2958T Esterling, L., 1739T Estrada, K., 2846W Estruch, S. B., 1194T Evans, D. M., 1238W Evans, E. A., 1740F Everhart, S. L., 2835T Ewing, A. D., 1713F Eyaid, W. M., 2273T
F Fadda, A., 2398W Fahiminiya, S., 709F Fairchild, V., 2370F
Fakhro, KA, 1495W Fallatah, W., 2341T Falvo, F., 2386W Fan, J., 1666W Fan, R., 1257W Fang, H., 1828W Fang, L. T., 1806F Fang, N., 2713W Fang, Q., 2948W Fanous, A., 1239T Farber, C. R., 334 Farengo-Clark, D., 2053W Fares Taie, L., 2391F Farh, K., 1190W Farhan, S. M. K., 1177F Farrah, T., 1755F Farrell, C., 2205F Farrell, C. M., 1741W Farwell Hagman, K. D., 1953F Fastre, E., 2863F Fattahi, Z., 2005W Faucz, F., 237 Fava, V. M., 1390T Fave, M. J., 358 Fedick, A. M., 1927W Feenstra, B., 2147F Feitosa, M. F., 782W Fellay, J., 2029W Feng, Q., 652W Feng, S., 1385F Feng, X., 1846W Feolo, M., 1751T Ferguson, B., 410F Fernandez, T. V., 60 Fernandez-Lopez, J. C., 657T Feusier, J., 1509W Feyder, M., 1188T Field, Y., 1564T Fifita, J. A., 2918W Finucane, H., 1365W Fisch, A. S., 670W Fisch, G., 2379F Fish, A., 226 Fitch, J., 1761F Fletez-Brant, K., 449T Fluegge, K. R., 886F Focsa, I. O., 1178W Fogarty, E. A., 2989F Folkersen, L., 664W Fonseca, C. M. B. C., 2491F Forsberg, L. A., 2777W Foster, A. C., 2209F Fostira, F., 2764T Fouladi, R., 1342T Fox, K., Session 80 Frank, C. L., 2755W Fraser, J. L., 2314F Frebourg, T., 86 Frederiksen, A. L., 2455W Freimann, K., 1206T Freimuth, R. R., Session 82 French, J. D., 2640T Frengen, E., 2904T Freudenberg-Hua, Y., 1151W Friedman, B. E., 261 Friedman, J. M., 2162F
Frikha, R., 2115F Fritsche, L. G., 200 Fritzilas, E., 1829T Frodsham, S., 1011T Fu, S., 705T Fu, X., 884W Fuchsberger, C., 341 Fufaa, G. D., 403T Fujimoto, A., 361 Fukuoka, M., 3055F Funnell, A. P. W., 3034T Furlotte, N., 1300T Furqan, A., 642F Furukawa, R., 411T Fusco, F., 2935F Fusi, N., 1325F
G Gaddis, N. C., 2562W Gaedigk, A., 680W Gagliano, S. A., 1440W Gagnon, F., 578T Gai, L., 1602F Gainullin, V. G., 2951W Gaiser, V., 2821F Galarneau, G., 514W Galinsky, K. J., 352 Gallagher, C. S., 885T Gallo MacFarlane, E., 157 Gambin, T., 1674F Ganapathi, M., 2416W Gandin, I., 891T Ganetzky, R. D., 2288F Gang, Q., 729T Ganguly, B., 2262W Ganna, A., 458F Gao, F., 317 Gao, X., 984T Gardner, S., 205 Garieri, M., 3094T Garrett, M., 993T Garrison, J. E., 2818F Gartner, V., 1235W Gatev, E., 1603W Gaudet, D., 2333T Gaudet, P., 2632T Gaulton, K., 1310F Gaviria-Manrique, A. M., 1222F Gawish, G.E-H., 2679W Gaytán-Arocha, J. E., 671T Gazzellone, M. J., 2506F Ge, J., 1183F Ge, Z., 2933W Gebreab, S. Y., 2259W Gecz, J., 2980F Geigenmuller, U., 2112T Geister, K. A., 2553W Gelbart, M., 2233F Geller, F., 681T Genin, E., 1196W George, A., 2546W George, R., 147 Germain, D. P., 474W Gerrol, P., 2070F Gerstein, M., 342 Getz, J., 2653W Geybels, M. S., 366
Ghanbari, M., 3051F Gharahkhani, P., 2606T Ghavimi, S., 125 Ghodke-Puranik, Y., 843T Ghorbian, S., 2735W Ghosh, R., 206 Ghoussaini, M., 6 Gianfrancesco, M., 1395W Gibbons, R., Session 11 Gibbs, D. L., 1762W Gignoux, C. R., 1885W Gilats, M., 2196F Gilbert, A. D., 2223F Gilissen, C., 140 Gilly, A., 137 Gilman, J., 2389W Gioia, R., 2596T Giorda, K. M., 2719W Giorgio, E., 3037F Giri, A., 921T Giugliani, R., 2285T Giuste, F., 465T Gladstein, A., 1586T Glassberg, E. C., 1499W Glastonbury, C. A., 572T Glavac, D., 2756T Gliner, G., 1336T Glusman, G., 1667T Goddard, K. A. B., 2107F Golan, D., 220 Goldberg, D., 2214F Goldfeder, R. L., 1837W Goldin, L. R., 743W Goldstein, A. M., 2766T Golzio, C., 2462T Goncalves, M., 3121F Goncalves-Serra, E., 2880T Gong, M., 2929F Gonzaga-Jauregui, C., 2865T Gonzalez, A., 2811T González-Galarza, F. F., 703T Gonzalez-Mantilla, A., 1039F Gonzaludo, N., 184 Goodship, J., 611T Goodwin, S., 1873W Gopalan, S., 1476T Gordon, C., 535W Goriely, A., Session 81 Gorski, M. M., 912T Gossmann, A., 1343F Gottlieb, B., 2693W Goudet, J., 1551W Gould, R. A., 156 Gouveia, M. H., 1449W Govaerts, L., 2130T Goverde, A., 2789W Govil, M., 1008T Gowans, G. C., 2446W Gräf, S., 639F Graff, M., 1317W Graham, B. E., 1714W Graham, S. A., 2999W Granka, J. M., 1552T Grauholm, J., 1015F Gray, K. J., 2151F Green, R. C., 1303T
Session numbers follow speaker names; abstract/poster numbers follow author names.
SPEAKER AND FIRST AUTHOR INDEX 243
H Hackmann, K., 2694T Haddad, M. R., 493T Haddad, S. A., 2580T Hadid, Y., 1949T Hadjisavvas, A., 983W Hadjixenofontos, A., 882T Haendel, M. A., 337 Haghighi, A., 2020W, 2420T Haghighi-Kakhki, H., 2422W Haider, M. Z., 826F Hajianpour, M., 2428W Hajirasouliha, I., 1604T Hall, J., 3178T Hall, M. A., 1398W Hall, N. B., 1281W Haller, G., 1893F Halvardson, J., 2084T Hamilton, J. G., 2177T Hamilton-Nelson, K., 25 Hammar, E. B., 1972W Hammarsjö, A., 3018T Hammer, C., 947W Hamosh, A., 1778T Han, B., 1326W
Han, E., 1565W Han, M., 1184W Han, S., 2609W Han, T., 2975W Hancock, D. B., 778F Hanein, S., 2076F Hansen, K. D., 3113F Hansen, M. E. B., 1587W Hanson, R. L., 1443W Haque, I. S., 2105F Haraksingh, R. R., 1813W Hardigan, A., 2672T Hare, A. E., 3117F Harel, T., 2927W Harismendy, O., 1880T Harney, L. A., 111 Harpak, A., 1481W Harripaul, R. S., 1029T Harris, D., 1459W Harris, J., 233, 2158F Harris, K., 1523W Harrison, S. M., 2093T Hart, S., 1605F Hartman, K. A., 1516T Hartmann, K., 560T Hartsfield, J. K., 790F Hartshorne, T., 2035W Hashemi-Gorji, F., 2049F Hassold, T., 107 Hastie, A., 2496F Hatano, C., 2390T Hatano, K., 3038T Hatipoglu, O. F., 501T Hatzikotoulas, K., 892F Haunschmid, V., 1814T Hause, R. J., 2655W Hauser, E. R., 2610T Hayeck, T., 346 Hayeems, R. Z., 2181T Hayes, D., Session 76 Hayes, M., 922F He, H., 1763T He, J., 1908F He, M., 185 Hebbring, S., 1383W Heckerman, D., 349 Hedatale, V., 1847T Hegerich, P. A., 2009T Heinonen, HR., 2149F Helbig, K. L., 54 Helgadottir, H. T., 779W Helgeson, M., 1967T Helm, M. H., 2159T Helman, E., 359 Hema Prasad, M., 985F Hendee, K., 2817T Henderson, L. B., 216 Henderson-Smith, A., 1058W Hendricks, W. P. D., 89 Hendrickson, C., 2042T Heo, S., 2611W Herlin, M., 3000T Hernandez, R., 195 Hernandez, W., 592W Hernández-Tobías, E. A., 1503W Hess, K., 1537W Hesselberg, E., 823F Hetrick, K. N., 1716F
Hettige, N., 668W Heydarpour, M., 643W Hicks, J. E., 1380W Hiekkalinna, T., 1386W Highland, H. M., 305 Hill, A. J., 139 Hill, S. L., 2256W Himes, P., 130 Hiraoka, Y., 2231F Hitomi, Y., 692W Hodgson, K., 1063F Høffding, L., 2497F Hoffman, G. E., 3171F Hoffman, J. D., 893W Hoffmann, T. J., 1442F Hofmann, A., 274 Hoischen, A., 2030T Holingue, C., 432F Hollegaard, M. V., 2109F Hollister, B., 1408T Holzinger, E. R., 1425W Homsy, J., 612F Hong, C. S., 1738W Hong, J., 2413W Honzik, T., 2291T Hoover-Fong, J., Session 79 Horgusluoglu, E., 1043W Hori, I., 2418F Horikoshi, M., 153 Horinek, A., 2656T Hormozdiari, F., 1107T, 1272W Horn, H., 2581W Horvath, L., 3045F Hosozawa, T., 1498T Hostelley, T. L., 2540W Hott, A., 2229F Hottenga, J., 923W Hou, H., 818W Hou, L., 1436F Houdayer, C., 88 Houge, G., 385 Houtman, M., 827W Hovatta, I., 3056T Howard, A. D., 840T Howell, R. R., Session 45 Howey, R. A. J., 1389W Hsieh, P., 1530T Hsiung, C. N., 2254W Hsu, Y., 2544W Hsu, Y. H., 80 Hsueh, W.-C., 347 Hu, C., 1167T Hu, F., 2593W Hu, L., 3153F Hu, V., 1233T Hu, X., 1000F Hu, Y., 1319F, 1517W, 3090T Hu, Y. J., 223 Hu, Z., 3073F Hua, X., 1293W Huang, A., 61 Huang, C. C., 2127F Huang, H., 327 Huang, L., 1706T Huang, M., 1524T Huang, N., 246 Huang, T., 57 Huang, W., 1606W
Huang, Z., 1830F Huber, C., 3019F Huebenthal, M., 3047F Huff, C. D., 343 Huffman, J. E., 894T Hufnagel, S. B., 252 Huggins, W., 1848F Huisman, S. M. H., 1849W Humphries, C., 1607T Hung, R. J., 7 Hunt, K., 2215F Hunter, D., Session 2 Hunter, J. E., 2062W Hunter, J. M., 2885W Huq, A., 2297T Hurles, M., 188 Hussong, M. A., 3191F Hutchinson, S. A., 2807W Hwang, T., 1170T Hwang, Y.-C., 268 Hwu, W., 1941F Hyams, T., 2248W Hyland, F. C. L., 31 Hytönen, M. K., 2905F
I Ice, J. A., 3046T Igartua, C., 895F Iglesias Gonzalez, A., 67 Igo, R. P., 821W Im, H., Session 13 Imagawa, E., 2986F Imai, A., 1279T Inagaki, H., 3110T Inamdar, N., 2510F Inoue, K., 469T Ioannidis, N. M., 1608F Ionescu-Zanetti, C., 2695W Ionita-Laza, I., 1273T Iravathy Goud, K., 547W Irving, M. D., Session 79 Isasi, R., 2171T Ishihara, N., 1132F Ishiura, H., 1100W Ishiyama, I., 2237F Isom, L. L., Session 7 Ivanov, N. A., 413T Ivanova, M., 2778T Iyer, J. S., 45 Iyer, K., 350
J Jackson, A. P., Session 81 Jackson, V. E., 954T Jacobsen, J. C., 2414T Jaenisch, R., Session 74 Jaffe, A. E., 298 Jagadeesan, A., 321 Jain, A., 494W Jain, D., 924T Jain, M., 2471T Jaishankar, A., 2545W Jajodia, A., 1056T Jamal, S. M., 2182F James, P. A., 546F
Session numbers follow speaker names; abstract/poster numbers follow author names.
SPEAKER/FIRST AUTHOR INDEX
Greenwood, C. M. T., 1294T Greer, S., 1807W Griffith, S. M. L., 1715T Grindedal, E., 2744T Grisolia, M., 2371W Griswold, A. J., 1141F Grochowski, C. M., 3078T Groden, M., 1580T Gross, J. A., 412F Grossman, T. R., 381 Grove, J., 59 Grunseich, C., 53 Gschwind, A. R., 3128T Gu, J., 1910T Gu, S., 114 Gu, Y., 2654T Guan, M., 707W, 783T Guan, W., 402F Guan, Y., 1337F Guella, I., 1179T Guffanti, G., 3040T Gui, H., 996T Guillen Ahlers, H., 3029F Guimier, A., 2 Gunay-Aygun, M., 2957W Gunter, C., Session 23 Guo, C., 16 Guo, D., 2864W Guo, M. H., 1267T Guo, T., 627F Guo, W., 1088W Guo, Y., 1838T, 2984W Gupta, R., 1157W, 1675W, 2607W Gupta, S., 834T Gupta, V. A., 481T Gusev, A., 11 Gutierrez, I. A., 2608T Gutierrez-Arcelus, M., 3097F Gymrek, M., 1502T
244 SPEAKER AND FIRST AUTHOR INDEX James, R., 1859T Jamil, M., 2336F Janatova, M., 2582T Janavicius, R., 2736T Jangi, M., 56 January, K., 2255W Jardim, L. B., 1249F Jarvela, I., 1510T Jarvik, G. P., 1986F Jasmine, F., 397T Javitt, G., Session 12 Jawaheer, D., 672W Jaworski, J., 1080T Jayaraman, P., 1764F Jayaraman, V., 1978W Jeanpierre, M., 1482T Jeff, J., 1016W Jenkins, M., 1376F Jeong, C., 1511W Jeong, K., 3142T Jeremian, R., 324 Ji, H. P., 1891W Ji, Y., 1660W Ji, Z., 1609W Jia, P., 925F Jia, Z., 972T Jian, X., 1143T Jiang, D., 186 Jiang, Q., 973F Jiang, R., 575T Jiang, W., 2937T Jiang, Y., 762T, 1394F Jin, W., 1881F Jinawath, N., 2495F Jing, Y., 2563W Jobling, R., 2101F Joecker, A., 1610T Joensuu, A., 3086T Johnson, A., 2583W Johnson, K., 853F Johnson, K. E., 3141F Johnson, M. E., 68 Johnson, M. P., 719W Johnson, R., 1525W Johnson, R. C., 1611F Johnston, H. R., 20 Johnston, J. J., 2906W Jondeau, G., 118 Jones, E. M., 2907T Jones, M. K., 2447T Jones, S., 2779W Jonsson, A., 799F Joo, J. W., 1685T Jorgenson, E., 822T Joseph, G., 2192F Joshi, P. K., 873T Joshi, R., 94 Ju, C. J.-T., 1717W Jung, J., 1089T Jung, S., 2492F Jurca, C. M., 2351T Jurgens, J., 2814T Just, A. C., 433T Justice, A., 896W Justice, C. M., 775F Justin Carlus, S., 633F Juusola, J., 1979T Jyothy, A., 2108T
K Kaakinen, M., 42 Kabra, M., 730F Kadara, H., 2720T Kaganovich, M., 1861W Kambouris, M., 2908F Kammers, K., 567F Kan, S. H., 245 Kaname, T., 2448F Kanchi Ravi, R., 1918W Kane, M. S., 2475F Kang, H. M., 1822W Kang, J., 553W Kang, M., 980W Kannan, M., 389 Kao, C., 3129F Kapalanga, N., 1033F Kaphingst, K., 2183T Kapoor, A., 631W Kapoor, M., 1136W Karaca, E., 3001F Karaca, M., 1897W Karaderi, T., 926W Karbalai, N., 1785F Karhade, M., 731W Kariuki, S. N., 700W Karjalainen, M., 927T Karyadi, D. M., 9 Katapodi, M. C., 2780T Kauffman, T. L., 129 Kaur, A., 829F, 2133F Kaur, I., 842W Kaur, J., 2041W Kaur, M., 1468T Kaur, R., 848W Kaur, S., 803W Kawafuchi, Y., 650W Kawai, Y., 1367F Kaye, E. M., 487T Keating, B., 2050W Keaton, J. M., 946F Keen, C., 2347W Kehrer-Sawatzki, H., 3122T Keinan, A., 24 Kellis, M., 304 Kelly, B., 1747W Kemaladewi, D. U., 495T Kember, R. L., 1144F Kennedy, M. A., 1940T Kennerson, M. L., 2987W Kenny, E. E., 1578T Kermany, A. R., 315 Kernohan, K. D., 2855W Kessler, M. D., 1472T Kettunen, J., 313 Keys, K. L., 1612W Kezmarsky, P., 2102T Khaligh, A., 1030F Khan, N., 2762T Khawaja, A. P., 1668F Kho, A., Session 8 Khor, S., 1749F Khramtsova, E. A., 669T Khromykh, A., 2245W Kibriya, M. G., 1909W Kichaev, G., 791W Kiel, M. J., 1613T Kikuchi, A., 1137T
Kikuchi, M., 1081F Kim, B., 897T Kim, D., 3130T Kim, G.-H., 2977F Kim, H., 874F, 1939W Kim, H. J., 399T Kim, J., 390, 1311W, 1417T, 1615W, 1911F, 2429T, 3164T Kim, J.-W., 2826T Kim, M., 2006T Kim, S., 1064W, 1614F Kim, S. Y., 401T Kim, T.-E., 687T Kim, Y., 323, 3163F Kimura, M., 2952T Kinnamon, D. D., 1850T Kinnear, C. J., 515T Kiranmayi, M., 565W Kirat, E., 2352F Kirsten, H., 3172T Kirwin, S. M., 2440W Kitajima, H., 787F Kiumarsi, Y., 2757W Klar, J., 974W Klein, C., Session 11 Kleinberger, J. W., 2063T Kleinman, A., 1616T Kline, A. D., 2480T Knight, S., 644T Knight Johnson, A., 1995F Knowles, E. E. M., 1090F Ko, A., 986W Ko, E., 2118T Ko, W., 1453W Ko, Y., 850F Kobayashi, Y., 203 Koboldt, D., 4 Koch, S. F., 496W Kodera, H., 2856T Koh, H., 1827F Kohda, M., 2886T Kohl, S., 280 Kojima, K., 1617F, 2407W Koleck, T. A., 2584T Komla Ebri, D., 244 Kondelin, J., 2684T Kondo, A., 2549W Kong, J., 375 Kong, X., 2758T Konkel, M. K., 3145F Koolen, D. A., 285 Koparir, E., 1108F Korbel, J., Session 6 Korenberg, J. R., 461T Korlach, J., 414F Kosaki, K., 2402T Kosho, T., 120 Kosmicki, J. A., 1109W Kosova, G., 160 Kötter, L., 3007F Kousi, M., 2867W Kovacs, MA., 2597W Koyama, T., 2696T Kozma, K., 2353W Kraatari, M., 761W Krebs, C. E., 1159F Kremer, H., 2844T Krepischi, A. C. V., 398F Kriek, M., 2164F
Krier, J., 255 Krishnamurthi, S., 2403F Krock, B., 537F Kruglyak, L., Session 44 Krupp, D., 1110T Kruszka, P. S., 508W Kubaski, F., 2318F Kucera, K. S., 1125T Kuchenbaecker, K., 2626T Kucinskas, V., 1506T Kujawa, S., 2697W Kuksa, P. P., 1696W Kulchak Rahm, A., 2250W Kulkarni, H. S., 1388F Kullo, I. J., 638T Kumar, A., 415T, 2887F Kumar, P., 1531W Kumari, P., 119 Kumasaka, N., 167 Kundaje, A., 97 Kunkle, B. W., 732T Kuo, C., 1370F Kurihara, L., 1875F Kurki, M. I., 1127W Kurmangaliyev, Y. Z., 3063F Kuroki, Y., 3160T Kusko, R., 1774W Kvaratskhelia, E., 400F Kwak, H., 3060T Kwak, S., 404F Kwong, A., 745F
L Laberge, A. M., 2324F Labonne, J. D. J., 1025W Lacassie, Y., 2417T Lachance, J., 10 LaHaye, S., 613W Lai, P. S., 500W Laig, M., 2657W Lake, N. J., 2301T Lakhani, C. M., 348 Lala, S., 2374W Lam, C., 2276F Lam, E. T., 2721W Lamontagne, M., 835F Lan, F., 2988T Lan, X., 1489W Landrum, M. J., 1912W Landsverk, M., 682W Landucci, E., 2998F Lane, J., 1669W Lane, J. M., 836W Lapointe, G., 2142T Larsen, E., 1590F Larson, J. L., 2036T Larson, N. B., 600F Lasky-Su, J., 225 Lasseigne, B. N., 394F Lau, B., 1792W Lau, C., 2456T Lavillaureix, A., 2488W Lawson, P., 1236T Lazaridis, I., 318 Lazarin, G. A., 2111F Le, Q. S., 1839F Le, S., 2269T Leader, J. B., 1697T
Session numbers follow speaker names; abstract/poster numbers follow author names.
SPEAKER AND FIRST AUTHOR INDEX 245 Lin, N., 1228F Lin, W., 1269W Lincoln, S., 1928T Lind, P. A., 1213F Linderman, M. D., 2189T Lindgren, C. M., Session 5 Lindhurst, M. J., 2803F Lindsay, S. J., 1497W Lindstrand, A., 2866F Lindy, A. S., 2008W Liou, B., 250 Lipinski, S. E., 2930W Lippincott, M., 2849W Lisi, E. C., 2064F Lisoway, A. J., 660W Listgarten, J., 163 Liu, A., 1623F Liu, B., 1620F Liu, C., 434F Liu, G., 1621W Liu, H., 1958T Liu, J., 951T, 1622T Liu, M., 930T, 2964T Liu, N., 695T Liu, P., 1957W Liu, T.-Y., 1869F Liu, X., 1624W, 3116T, 3179F Liu, Y., 21, 52, 1478T, 1485W, 2919T, 3052T Liu, Z., 579F Liu-Cordero, S., 1835T Lobo-Prada, T., 1034W Locke, A. E., 629T Lodh, S., 172 Loeys, B., 542T Lofgren, S. E., 960T Loh, P., 38 Loke, J., 2633W Lombard, Z., 816T Lombardo, R. C., 2461W London, S. J., 416F Long, M. D., 1765W Long, S. M., 2136T Loo, J., 1577W Lopes-Cendes, I., 1245T Lopez, G., 2305T Loud, J. T., 2188F Lourenco, C., 382 Loviglio, M. N., 49 Low-Kam, C., 1431W Lowther, C., 2507F Lu, A., 92 Lu, C., 1358F Lu, D., 1504T Lu, J., 2810W Lu, Q., 75 Lu, X., 580W Lu, Y., 1290W Lubitz, S., 533T Luca, F., 373 Ludwig, K. U., 898F Lugtenberg, D., 1980F Lunter, G. A., 1793T Luo, Y., 23 Lupton, M. K., 1229W luzi, S., 1061W Lynch, D. C., 122 Lyon, G. J., 218 Lyons, L. A., 191
M Ma, L., 615F Ma, S., 1625T Ma, Y., 587T Maas, P., 1283F Mabuchi, F., 975T Maby, P., 243 MacArthur, D., 351 MacArthur, J. A. L., 1745T Macciardi, F., 3101F Macek, M., 616W Machado, R. D., 554T Machiela, M., 2613W Madar, A., 332 Madbouly, A., 1626F Maddula, K., 2658T Madduri, K., 1627W Madeleine, M. M., 2614T Mafra, F. A., 899W Maftei, C., 2383W Maglic, D., 2978W Maguire, J. R., 1810W Mahajan, A., 299 Mahajan, N., 645F Maher, E. R., 87 Maili, L., 849T Majid, S., 2833F Majumdar, A., 1327T Mak, A. C. Y., 733F Makeeva, O. A., 646W Makrythanasis, P., 2997T Malicdan, M. C., 2976T Malinverni, A. C. M., 2146T Mamiya, P., 462F Mancini, C., 2795W Mancini-DiNardo, D., 2018T Mancuso, N., 1018F Mandal, D., 2781W Mandel, J.-L., 2466F Mangold, E., 720T Mangubat, A., 1794F Mangul, S., 1766T Manley, W., 1172W Mannermaa, A., 448F Männik, K., 291 Manoli, I., 2274F Manry, J., 1424F Mansfield, E., Session 3 Mansouri derakhshan, S., 2834W Manzini, M., 2812F Mao, L., 2380W March, M., 817F Marchini, J., 224 Marcou, C. A., 2534F Marcus, J. H., 1532T Mardis, E., Session 76 Mariaud-Schmidt, R. P., 2489T Marigorta, U., 878W Marini, J. C., 2798W Marinkovich, M. P., MD, 497T Marino, J., 3012T Markelllo, T., 2449W Marks, P., 1628T Marosy, B., 1882W Marqués, J. M., 1959F
Marquez, M. G., 2615W Marshall, J. C. M., 688W Marshall, M., 2054T Marshall, S., 1960W Marshe, V. S., 659T Marsiglia, J. D. C., 543F Martelle, S. E., 1040W Martelli, L., 2354T Martens, T., 2037F Martin, A. R., 1078F Martin, C., 1216F Martin, P., 70 Martin, S. A., 1629F Martinelli, D., 2815F martinez, J., 2393T Martínez Macías, FJ., 2364F Marvin, C. T., 3013F Marziali, A., 2714T Masindova, I., 931F Mason, C., 98 Matern, M., 2547W Mather, K. A., 3082T Mathews, D.JH., 2206F Mathias, P. C., 2242W Mathias, S. R., 1091W Mathieu, A., 1042F Matoba, N., 1160W Matos, A., 3075F Matsumoto, A., 1112W Matsuo, H., 932W Mattheisen, M., 1073W Mattsson, H., 3132T Matyakhina, L., 2505F Maurano, M. T., 3030T Maxwell, K. N., 2675W Maxwell, T. J., 589W Maya, I., 110 Mazzeu, J. F., 2498F Mazzocco, G., 1851F McAllister, K., 845W McBride, K. L., 2307T McCarthy, N. S., 1070W McCarty, C., Session 8 McCarty, K. A., 1133W McCole, R. B., 3095F McCoy, R. C., 148 McDaniel, D., 516F McDonald, M.-L. N., 1001W McDougall, C., 2368W McEldrew, D. A., 3083F McFarland, K. N., 2990W McGarvey, P., 3161F McGeachie, M. J., 1782F McGhee, K., 2197F McGinnis, R., 151 McGregor, N. W., 1223W McGuire, P. J., 2313T McHugh, C., 1270T McInnes, R. R., Session 42 McKay, G. J., 792T McKay, R., Session 74 McKinney, C., 2275T McMaster, C., Session 83 McNaughton, A. J. M., 391T Mead, D., 2722T Medina Gomez, M. C., 198 Medina Rivera, A., 450F Medne, L., 2198F Meester, J. A. N., 606F Mefford, H. C., Session 7
Session numbers follow speaker names; abstract/poster numbers follow author names.
SPEAKER/FIRST AUTHOR INDEX
Leal, M. F., 819T Lebo, R. V., 2522F Le Clerc-Blain, J., 2225F Lee, B., 1903W, 2554W Lee, D., 524T, 1686F Lee, H., 1784T, 1955T Lee, H. H. C., 2277T Lee, I., 1900W Lee, J., 800W, 1954W Lee, J. H., 809W Lee, J. J., 383, 1360T Lee, J. M., 1111F Lee, J. S., 2790T Lee, K. E., 765T Lee, S., 2002W Lee, TL., 2153F Lee, W., 230, 2435T Lee, Y., 959W, 1306T Lefebvre, M., 2083W Lefever, S., 2043F Leffler, E. M., 3131F Le Gac, G., 2270F Lehmann, K., 17 Lei, S., 859F Lei, Y., 2406F Leinonen, J. T., 614T Leitch, C., 2543W Lelieveld, S. H., 1840W Lemes, R. B., 1540T Lemmink, H. H., 2898T Lerner, B., 2251W Leslie, E. J., 928F Lesnick, J., 2673W Lessard, S., 3166T Lesueur, F., 2612T Letourneau, A., 3042T Leung, Y. Y., 3058T Levesque, C., 844F Levy, J., 2502F Lewis, J., 658W Lewis, M., 2172F Ley, R., Session 75 Li, C., 588F Li, D., 1010W, 2875F Li, H., 1956F, 3155F Li, J., 929W, 1026T, 1189F Li, L., 2564W Li, M., 1202W Li, Q., 1427F Li, R., 1405T, 1480T, 3057F Li, S., 459T Li, W., 603F, 1345T Li, X., 2017W, 3186T Li, Y., 1282T, 1618W, 3173F Li, Y. R., 866W Liang, J., 593T Liang, L., 2698T Liang, M., 3098T Liang, Y., 571W Liao, K., 1699W Lieber, D. S., 1619T Li-Gao, R., 813T Lim, R. M., 1862T limgala, R., 2337T Limou, S., 1718T Lin, C. J., 2073F Lin, C. W., 1553W Lin, K., 1297T, 1387T
246 SPEAKER AND FIRST AUTHOR INDEX Mefford, J. A., 1284W Mehanna, P., 1833F Meienberg, J., 555F Meisler, M. H., Session 7 Melaragno, M. I., 2355F Melegh, B., 1460T Melo, F., 2949T Meltzer, B., 1961T Meltz Steinberg, K., 227 Mendes-Junior, C. T., 1461W Mendez, F. L., 1554T Mendez-Hernandez, A., 1496T Mendizabal, I., 417T Meng, L., 1962F Menon, S. R., 2375T Mercado, C., 2945W Mercati, O., 1161T Mercer, J. D., 78 Mercier, V., 846T Merideth, M., 2477T Messner, D., Session 12 Metcalfe, S. A., 2132T Metspalu, M., 1450T Meun, C., 933T Meyn, M. S., 2094F Mez, J., 1082W Mezlini, A., 1852W Mian, L., 556W Michailidou, K., 3 Migita, O., 763F Migliavacca, M. P., 2876W Mignot, E., 1065T Milan, D., 155 Millan, F., 2914F Miller, C. L., 581T Miller, D. E., 617T Miller, K. W., 2168F Miller, M. J., 2272F Miller, N., 2281T Miller, R. H., 867T Mimori, T., 1676T Mingroni-Netto, R., 2823T Minikel, E. V., 40 Minillo, R. M., 2745W Miozzo, M., 2482W Mirlene, C., 2858W Mirzaa, G., 213 Mirzaei, A., 2052F Misawa, K., 1780W Mishra, A., 810T Mistry, P., 478W Mitne-Neto, M., 2243W Mitra, R., 734W Mittal, A., 3084T Mittal, B., 1328F Mittal, K., 1185T Miura, S., 2836F Miya, F., 1817T Miyagawa, T., 1074T Miyake, N., 2899F Miyatake, S., 3133F Miyauchi, A., 2405T Mladkova, N., 956W Mo, H., 663T Moen, D. R., 484W Moeschler, J., 2467W Mohajeri, K., 112 Mohammadi, P., 3174T
Mohiyuddin, M., 1795W Mohlke, K. L., Session 14 Mohseni Meybodi, A., 2119F Mok, A., 767W Mokry, L. E., 99 Molfetta, G., 1983F Molineros, JE., 768T Möller, M., 736F Monaghan, K. G., 2080W Mongan, A., 2717W Montalvo-Ortiz, J. L., 1092T Montasser, M., 735T Montenegro, X., 2728T Montgomery, S., Session 76 Mook-Kanamori, D. O., 970F Moon, S., 900T Moore, A., 2782T Moore, J., 143 Moore, J. H., 1719F Moorjani, P., 1488T Moosa, S., 3020W Mooser, V., 2165T Morales, A., 618F Morato do Canto, A., 3079F Moreira, D. P., 1113T Moreira-Filho, C. A., 1781T Morford, L. A., 950W Mori, M., 1996W Morin, A., 1573W Morini, E., 1248T Morisaki, H., 619W Morris, A., 136 Morris, J. A., 435T Morrison, J., 466F Mortimer, S., 2668T Morton, C., Session 5 Mosley, J. D., 79 Moss, L. C., 1409F Mostafavi, S., 1207F Mota-Vieira, L., 2944F Moura, P., 747T Moyer, C., 863W Moyses-Oliveira, M., 2992F Mozaffari, S. V., 310 Mudge, J. M., 370 Muhle, R. A., 1186F Mukherjee, S., 39 Mukhopadhyay, N., 901F Mulle, J. G., 293 Mullegama, S. V., 3070T Muller, Y., 801T Munafo, D., 2013F Munger, S. C., 371 Murabito, J. M., Session 5 Muratoglu Sahin, N., 2439F Murk, W., 1401W Murphy, T., 1720W Murphy, T. A., 2038W Murry, J., 1210F Musharoff, S., 1462T Musio, A., 3039F Musolf, A., 1381T Mussa, A., 174 Musunuru, K., Session 14 Mutesa, L., 2194F Muto, K., 2234F Muzny, D., 2024T Muzzey, D., 28
Myers, B. R., 1630W Myers, C. T., 63
N Nagasaki, M., 3147F Naik, A., 1736T Naik, H., 262 Nair, A., 793F Naj, A. C., 721F Najmabadi, H., 217 Nakamura, S., 498W Nakashima, M., 297 Nakatochi, M., 418F Nakatsuka, N. J., 1576T Nakka, P., 1402T Nalbandian, A., 471T Nallamilli, B., 737W Nandakumar, P., 517W Napier, M. D., 696W Naranbhai, V., 3183F Narasimhan, V., 353 Narvaiza, I., 356 Naslavsky, M. S., 814F Nastro, A., 2499F Natarajan, P., 1570T Nato, A. Q., 1023T Nattestad, M., 14 Nauman, N., 2148T Navarrete, J., 2317T Neale, B., Session 7 Neeley, L., Session 23 Nehoray, B., 2199F Nellaker, C., 2367F Nelson, G. W., 436F Nelson, M. R., 182 Nelson, S. C., 1364F Nesbitt, A. I., 193 Neveu, B., 242 Newcombe, P. J., 1346F Newcomer, J. D., 1631T Newman, D. L., 2239F Newnham, L., Session 10 Ng, D., 683T Ngcungcu, T., 2920F Ngun, T. C., 95 Nguyen, K., 699T, 2312F Nho, K., 3087F Ni, Y., 2591W Nicholas, T., 2850T Nicholl, J., 2508F Nicholls, R. D., 454F Nicolas, G., 104 Nicoletti, A., 2387T Niemsiri, V., 518T Nikbakht, H., 364 Niknafs, N., 169 Nimgaonkar, V., 1240F Nishi, E., 2356W Nishizawa, D., 649T Noel, V., 2173T Noguera, MC., 1544T Noh, H., 1162F Nolte, I. M., 594F Nonomura, H., 1246F Norris, A. L., 1808T Noruzinia, M., 3091F Noto, K., 322 Novo-Filho, G. M., 3190T
Nowak, C., 1019W Nunes, H. F., 2870W Nuñez Ríos, DL., 1031W Nussbaum, R. L., Session 42, 2319T Nuytemans, K., 988F
O Obeidat, M., 72 O'Brien, T., 2783W O'Connor, L. J., 1867W Oda, H., 2936W O'Dushlaine, C., 620T Oetjens, M. T., 1475W Oexle, K., 1992F Ogishima, S., 1853T Oh, E. C., 2559W Oh, H., 902W Oh, Y. G., 2523F O'Hara, A., 1677F O'Hare, E. A., 74 Ohno, M., 3071F Oikkonen, J., 1005T Okamoto, N., 1032T Okamura, R. J., 123 Okawa, K., 3146T Okula, A., 1721T Olde Loohuis, L., 1575W Olgiati, S., 101 Oliveira, S., 2494F Oliverio, R. M., 1507W Ollila, H. M., 949F Olney, K. C., 1700T Olry, A., 2246W Olsen, C., 1682T O'Leary, J., Session 8 O'Neil, D., 1901T Ongen, H., 2699W Onojighofia, T., 794W Onoufriadis, A., 795T Ori, A. P. S., 1174F Orozco, G., 831T Ortiz, D., 2470W Ottaviani, V., 2432T Otten, A., 2126T Ottini, L., 8 Ouyang, W., 1258T Översti, S., 1562T Oyama, F., 2953F Ozeki, T., 651T Ozel, A., 621F Ozen, M., 2423T Ozenberger, B. A., 1819W Oz-Levi, D., 1588W
P P., Usha., 532W Pachajoa, H., 2450T Padiath, Q. S., 2799T Padula, A., 1173T Padyukov, L., 1396T Paez, P., 2344W Pagnamenta, A. T., 1046W Pahlevan Kakhki, M., 1176T Pajukanta, P., Session 77 Pala, M., 3181F
Session numbers follow speaker names; abstract/poster numbers follow author names.
SPEAKER AND FIRST AUTHOR INDEX 247 Perrault, I., 2995F Perreault-Micale, C., 1929F Perritt, A., 2961T Perry, C. G., 2555W Perry, D. L., 259 Persad, P. J., 1247W Peskova, K., 2316F Peter, B., 1809F Peterson, R., 1086T Petridis, C., 2585W Petty, L. E., 722W Pham, X., 296 Philibert, R. A., 2156F Philips, A. K., 2915W Phillips, K., 2529F Piaggi, P., 936T Piccolo, P., 2966W Pickrell, J. K., Session 13 Pierce, B., 2244W Pierce, S. B., 214 Pilchman, L., 2204F Pilla, A. L., 2888W Pillers, D. M., 698W Pinto, A. M., 2962F Pirinen, M., 1265F Pirozzi, F., 292 Pisani, L., 2483T Pizzo, L., 1142W Plantinga, A. M., 1566T Platt, D. E., 1314W Pleat, R., 479T Plewczynski, D., 3108T Plomp, A. S., 277 Png, E., 3134T Pointon, T., 2331T Polfus, L. M., 748F Polimanti, R., 1224T Polivka, L., 2438T Pollard, M. O., 2048T Polyak, A., 2345T Poornima, S., 776W Popadin, K., 1492T Porras, A., 2114T Porter, F. D., 378 Posey, J. E., 190 Poterba, T., 3144T Potluri, V., 2500F Potter, H., 58 Povysil, G., 320 Powell, A., 2889T Prakash, R., 702W Prasad, A., 2702T Prasad, R., 2294F Pratto, F., Session 10 Preuss, M., 903T Price, A., Session 13 Price, A. J., 1787T Pri Chen, H., 2267T Primacio, R., 2046F Priya, R., 1138F Prlic, A., 1636W Procter, M., 2074W Prodduturi, N., 3165F Proukakis, C., 3143F Pruitt, K., 1742T Przeworski, M., Session 81 Pudrith, C. B., 1768W Pugh, E., 1796T Puig-Butille, J., 2055F Pule, D. G., 475T
Pulit, S. L., 582F Pullman, B. S., 395T Punj, S., 204 Purifoy, E., 2524F Purmann, C., 1934T Pusey, B. N., 1693W Puurunen, M. K., 1974F Pyatt, R. E., 2503F
Q Qaadri, K., 1722F Qi, H., 142 Qi, Q., 529W Qi, W., 1379F Qi, Z., 3176T Qian, Y., 2592T Qiao, L., 937F Qiao, W., 2335T Qin, H., 1276T Qiu, H., 1863F Quach, B. C., 1637T Quadri, M., 3002W Quillen, E., 1037W Quintero-Rivera, F., 113 Quinto, C., 1556T Quiver, M. H., 1557W
R Rack, P., 1902F Radder, J. E., 723T Rafferty, K., 108 Raftari, S., 117 Raghupathy, N., 1589T Ragoussis, I., 2703W Rahbari, R., 1579W Rahimi, M., 811F Rahman, M., 1399T Rahmani, E., 1723W Raj, P., 746W Raj, S. M., 774T Ramaker, R., 1203T Ramani, A. K., 2629W Ramdas, S., 1163W Ramírez, A., 2532F Ramirez-Ramirez, E. A., 2896F Rämö, J. T., 525F Ramos, E., 2236F Ramos, PZ., 2845F Ramsuran, V., 419T Rana, H. Q., 2667W Ranade, S., 1937T Rangasamy, S., 3009T Ranjouri, M. r., 2121F Ranza, E., 2394F Rao, M., 1259F Rao, M. V., 2441T Rao, S., 267 Rasberry, M., 2320F Rashmi, S., 2742T Raskin, S., 1115W Raterman, D., 1904T Ratnamala, U., 2827F Raulerson, C. K., 1797F Raval, R. J., 2442F Raveendrababu, M., 3024T
Raveendran, M., 3158T Ravnik-Glavac, M., 2040F Rawal, R. M., 1662F Raymond, V. M., 84 Rayner, N. W., 1638F Raznahan, A., 3069F Rebelo, A., 102 Reddy, K., 2765W Reddy, T., Session 78 Redin, C., 325 Reed, D., 2304F Reed, K., 2220F Reeves, M. J., 2075T Regalado, E. S., 622W Regier, D. S., 2226F Rehker, J., 1166W Rehm, H., Session 8 Reijnders, M. R. F., 178 Reinholdt, L., 55 Reinstein, E., 536T Ren, M., 557T Repetto, G., 583W Resch, A. M., 1585W Restrepo, N., 1013W Retterer, K., 1139W Reymond, A., 43 Rezaie, T., 1834W Rhead, B., 37 Rhee, S. Y., 938W Richards, C. S., 676W Richardson, T. G., 219 Richholt, R., 1219F Riestra, P., 796F Riffel, A. K., 2010F Riley, B. P., 1128T Rio, M., 2468T Risch, N., Session 1 Risso, D., 1513W Ritchie, M. D., Session 2, Session 7 Rivas, M. A., 1572T Rivera, N. V., 769F Rizo de la Torre, L.delC., 2941F Robak, L., 212 Robbins, K. M., 2793W Robbins, S. M., 2921W Roberson, E. D. O., 750T Robertson, J. D., 2565W Robins, C., 1584T Robinson, K. M., 2704T Robinson, M., 1469W Robinson, P., 340 Robson, V. K., 2981W Rocha, K. M., 1968F Rocha, M., 2681W Rock, K., 2134T Rockwood, S., 2808T Rodchenko, N. T., 2705W Rodgers, L. H., 2784T Rodriguez, D., 3081F Roeder, K., 1145W Rogers, A., 1541W Rojnueangnit, K., 2472F Roman, T. S., 841F Romero, V., 1526T Romm, J., 437T Roos, L., 420F Roosing, S., 2542W Rosenfeld, J. A., 1948W
Session numbers follow speaker names; abstract/poster numbers follow author names.
SPEAKER/FIRST AUTHOR INDEX
Palacios, J., 1555W Palamara, P., 354 Palescandolo, E., 1938F Palla, R. R., 756T Palme, J., 1670T Palmer, C. N. A., 673T Palmer, S. J., 476W Pan, D., Session 83 Pan, W., 1322F Pandey, R., 830W Pandya, A., 2425W Pandya, C., 365 Pang, A. W. C., 1632F Pangilinan, F., 934F Pani, J., 1786W Panigrahi, I., 2235F Panjaliya, R. K., 2700T Panjwani, N., 1045F Pankratz, N., 309 Panos, L., 2794T Panousis, N. I., 563T Papa, F., 2025F Pappas, J. G., 2346F Pare, G., 868F Parisi, M., 2357T Park, D. S., 1407W Park, J., 784F, 1767F Park, J. W., 2659W Park, K., 1998F Park, S., 44, 1634T, 2752T Park, Y., 272, 1633W Parker, M. M., 741T Parmar, P. G., 1400F Parsana, P., 1689F Parsons, L. N., 2152T Partch, A. B., 1122T Pasanen, A. M. S., 935W Pasaniuc, B., Session 13 Pasquale, L. R., 519F Patanam, I., 1261T Patat, O., 2120T Patel, A., 2058F Patel, J., 1635F Patel, K., 1919T Paternoster, L., 1244W Patil, P., 1437W Patowary, A., 1114F Patrick-Lake, B., Session 8 Patsalis, P., Session 3 Patwardhan, A., 2031F Pearlman, A., 2019F Pechter, K. B., 1987W Pedace, L., 1155T Pedergnana, V., 1434W Pedley, C., 2746T Peffer, M., 2230F Pellegrino, R., 690W Pemov, A., 2701W Penagaluru, P.Reddy, 701T Pendergrass, S. A., Session 82 Pengelly, R. J., 1483W Penton, A. L., 109 Perdomo, S., 2660T Pereira, S., 2184F Perez, A., 2358F Perez, B. A., 2971F Pérez, C. A., 1180F Pérez-Moreno, E., 3049F Perez-Palma, E. E., 908W
248 SPEAKER AND FIRST AUTHOR INDEX Rosengren, A., 1393T Rosenthal, E. A., 238 Ross, S., 1356W Rosse, S., 1818F Rothstein, M., 2160F Rothwell, R., 1527W Rothwell, S., 770W Rotunno, M., 862F Rowsey, R., Session 10 Roy, J., 2359W Roy, R., 2616T Roytman, M., 807T Ruan, P., 1724T Rubel, M. A., 3105F Rubicz, R., 2759W Rubinstein, W. S., 2224F Rudd, K., 48 Ruderfer, D., 3135F Russo, A., 438F Russo, G., 3072T Russo, M. L., 115 Rustagi, N., 1639W Ryan, R., 2176F Rzońca, S. O., 2916T
S Sabater-Lleal, M., 595W Sabatini, P. J. B., 33 Sabbaghian, M., 2122T Sabourin, J. A., 1329W Sadek, K., 964F Saeed, S., 2922T Saeidian, A., 2785W Saeidnejad, M., 2661W Safarova, M. S., 634W Saglam Ada, B., 2625W Saha, A., 15 Sahoo, T., 149 Saitsu, H., 1237F Saiyed, N. M., 2824F Saklatvala, J. R., 1698F Saleh, M. S., 2128T Salem, R. M., 860W Salgado, D., 1640T Salie, M., 969T Salleh, N., 2828W Sallis, H. M., 1093F Salo, P., 159 Salpea, P., 241 Saluto, A., 2326F Salzman, N.H, Session 75 Samango-Sprouse, C., 2360T Samarakoon, P. S., 1641F Samocha, K. E., 41 Sanches-Kuiper, R., 2792T Sanchez, A. M., 1854F Sanderson, S. C., 2190F Sandor, C., 306 Sanghera, D. K., 1558T Sanjai, D., 1905F Sankararaman, S., 319 Sanna, S., 1062T Sant, D., 504W Santana-Bejarano, U., 2737W Santorico, S., 939T Santos, S. C. L., 3014W
Santos-Cortez, R. L. P., 71 Sapkota, B. R., 943F Sardell, R. J., 875W Sarin, A., 1432T Saris, J. J., 29 Sarkar, A. K., 994F Sarubi, H., 2662T Sathirapongsasuti, F., 339 Sathyanarayanan, A., 1642W Satyanarayana, M. L., 630F Saunders, E., 2586T Saunders, G. I., 336 Saunier, C., 2982T Savarirayan, R., Session 79 Schaefer, C., 1094W Schaffer, A. E., 211 Schaffer, K., 1147F Schageman, J., 1930W Scharer, G., 2283T Scharf, J. M., 1066F Scheidecker, S., 2408T Scheinfeldt, L. B., 1330T Schepers, D., 526W Scherer, S., 684W Schick, U., 945T Schillert, A., 1725F Schilter, K. F., 2411T Schleede, J., 2537F Schleit, J., 3022F Schlessinger, D., 1441T Schlingman, D., 1836F Schmidt, E. M., 3151F Schmidt, J. P., 697T Schnall-Levin, M., 3192T Schneider, V. A., 1748T Scholz, M., 948T Schotik, M., 3123F Schott, A. R., 2381T Schrader, K. A., 2738T Schrauwen, I., 286 Schreiber, E. H., 1811T Schubert, J. A., 623T Schulz, H. L., 2078T Schurmann, C., 302 Schurr, T., 1451W Schwantes-An, T., 1316F Schwartz, C. T., 1884F Schwartz, M., 1643T Schwartz, S., 362 Schweiger, R., 81 Schwender, H., 1285T Scionti, F., 2388F Scollon, S., 254 Scott, E., 1051F Scott, W. K., 100 Scriver, C. R., Session 43 Seaby, E. G., 1973T Sebra, R., 228 Secolin, R., 1134T Segrè, A. V., 235 Sekar, A., 3136T Seldin, M. F., 883F Seller, A., 2221F Sellmer, L., 1052W Selvarajan, D., 2837W Seman, A. R., 2085F Sen, S. K., 527T Seneca, S., 2298F Sengupta, D., 1463W
Seo, S., 1997T Serajee, F., 2299T Sese, J., 1644F Severin, E., 2518F Seyedhassani, S., 3015T Shaath, H., 2900W Shabalin, A. A., 439T Shabsovich, D., 2526F Shaffer, J. R., 1701F Shagam, L. I., 2925T Shah, K. P., 1012F Shah, S., 1913T Shahin, M. H., 674W Shahir, N. M., 3104T Shahni, R., 377 Shahzad, M., 2890F Shaik, N. A., 838F Shalata, A., 528F Shameer, K., 944W Shams, S., 1798W Shang, M., 3053F Shankaracharya, S., 1645W Shanmugam, H., 2487F Shanmugham, A., 2091F Shariati, G., 2932F Sharma, A.ch., 2098W Sharma, R., 967F Sharopova, N., 1679T Sharp, K., 1277F Shayota, B., 2373F Shchelochkov, O. A., 2271T Sheets, K. M., 2004F Sheikh, T. I., 3111F Shekari Khaniani, M., 2996W Shen, F., 1646T Shen, J., 1445F, 1843W Shen, L., 1312T, 3148T Shen, S. Q., 1204F Shen, Y., 3031F Shendure, J., Session 78 Sherman, W. A., 1671F Sherry, S., 1858W Sheth, F. J., 2361F Sheth, J., 2003T Shetty, A. C., 1581W Shi, H., 797W Shi, J., 222 Shi, L., 1988T Shieh, J. T., 2096T Shigemizu, D., 1876W Shih, Y. S., 2587W Shimada-Sugimoto, M., 1075F Shimbo, H., 2300F Shimizu, A., 2202F Shin, G., 3156T Shin, J., 1193W Shin, Y. A., 1331F Shirts, B. H., 1382F Shively, K. M., 3017W Shooshtari, P., 76 Shore, S., 1894W Shoubridge, C., 388 Shraga, R., 1769T Shringarpure, S., 1583W Shui, I. M., 405T Shukla, T., 564F Sicotte, H., 1756W Siddiqui, M. K., 662W
Sidore, C., 138 Siebenthall, K., 3043F Sieber, K. B., 1799T Sifrim, A., 158 Silva-Cruz, R., 2519F Silver, A. J., 1681W Silver, M. J., 144 Simon, J. M., 3093F Simon, L., 1707F Simons, Y. B., 1512T Simpson, C. L., 2404W Singer, A., 2123F Singer, T., 2706T Singh, A., 573F Singh, H. N., 1743F Singh, K. E., 2088F Singh, M. M., 861T Singh, T., 295 Singleton, A. A., 544W Siniard, A., 1152T Sinke, R. J., 2032W Sirota, M., 152 Sivakumar, S., 1690W Sivasankaran, S. K., 421T Sivley, R. M., 1533W Skarp, S., 751F Skidmore, J. M., 2556W Skotko, B. G., 2362W Skotte, L., 1286F Slavin, T. P., 2588T Slavney, A., 1538T Slavotinek, A., 2430F Sleegers, K., 103 Sleiman, P., 940F Sloan, J. L., 2330F Sloan-Heggen, C. M., 2065W Small, K., 326 Smaoui, W., 2749W Smedley, D., 168 Smeets, H., 2663W Smith, C., 1355F Smith, C. L., 2822W Smith, C. S., 2928T Smith, JL., 2535F Smith, K., 2851F Smith, M., 2007F Smith, M. E., 251 Smith, TM., 2238F Smoak, E. M., Session 10 Snell, R. G., 2816W Snijders Blok, L., 289 Snyder, M., Session 75, 303 Snyder, M. W., 269 Soave, D., 1361F Sobreira, N., 187 Sockell, A. A., 1349F Soehn, A. S., 1156F Sofer, T., 1307F Sohn, M., 1842F Soldano, K., 1004W Sollis, E., 2993W Solomon, I., 2217F Son, S., 1095T Song, C., 584T Song, J., 1969W Song, M., 1315T Song, W., 1464T Song, Y. E., 1187W
Session numbers follow speaker names; abstract/poster numbers follow author names.
SPEAKER AND FIRST AUTHOR INDEX 249
T Tabei, S., 2066T, 2097F Tabor, H. K., 2185T Tackney, J., 1545W Tadashi, T., 2410W Taghavifar, F., 2942W Tahmasbi, R., 1339T Tai, A., 2716T Tai, C. G., 2617W Tai, D., 499T Tajuddin, S., 1320W Takahashi, Y., 1250W Takano, K., 2994T Takeuchi, F., 1567W Talebizadeh, Z., 1438T Taliun, D., 1374W Tam, A., 2426T Tamhankar, P. M., 2303T Tammimies, K., 1211W Tan, E. C., 2421F Tan, W. H., 2451F Tan, Y., 1308W Tang, C., 764W Tang, Z., 1362W Tanskanen, T., 2618T Tantzer, S., 468W Tao, F., 1085W Tao, R., 1181W Tapia, T., 2723W Taschner, P. E. M., 1825W Tatum Parker, T. C., 126 Taub, M. A., 520W Tayama, C., 2558W Tayebi, N., 1168F Taylor, T. D., 338 Tayo, B., 941W Tcheandjieu, C., 2589W Tekola-Ayele, F., 135 Telegrafi, A., 2861W Telenti, A., 3157F Telis, N., 1568T Temel, S. G., 599T Tenenbaum, J. D., Session 82 Teng, L., 1771W Terada, A., 1726W Tesarova, M., 2302F Tessier, L., 2260W Tetreault, M., 2338F Teumer, A., 69 Thakuria, J. V., 2067F Thauvin-Robinet, C., 171 Theis, J., 607W Thelma, B. K., 771T Thevenon, J., 2458W Thiel, C. T., 2891W Thiffault, I., 1126F Thompson, B. A., 2791W Thompson, J., 1981W Thompson, M. D., 19 Thornton, T., 1470T Thun, G.-A., 757F Thurner, M., 440F Thygesen, J. H., 1815F Tian, S., 1801W Tian, X., 1963W Tibbils, B. D., 1727T Tideman, J. W. L., 957T
Tilghman, J. M., 1116T Tilgner, H., 13 Tiller, G. E., 3003T Tim, R. C., 2137F Timpson, N. J., 314 Tindale, L. C., 857W Tirado, C., 2515F Tischkowitz, M., 2739W Tobin, M. D., 1071T Todd, J. N., 1446W Togawa, T., 2443W Toland, A., 2634T Tolhuis, B., 1647F Tom, J., 1823T Topka, S., 2635W Torene, R. I., 480W Toro, J. R., 2464W Torres, F., 3004F Torres, J., 1354T Torres, J. N., 1728F Tousignant, R., 208 Tovar, M., 1225F Towers, A. J., 91 Towne, M. C., 2211F Toyo-oka, L., 820F Traglia, M., 1214W Traurig, M., 802F Tremblay, K., 3088T trotta, L., 1826T Trujillano, D., 2671W Trujillo, N. A., 1471W Truong, D. T., 1035T Trynka, G., Session 14 Tsai, A., 2365W Tsai, C. H., 1775T Tsai, E. A., 1014T Tsang, M., 1993W Tseng, J., 1757T Tsepilov, Y. A., 1418F Tsering, T., 1559W Tsetsos, F., 1191T Tsoi, L. C., 329 Tsosie, K. S., Session 80, 2117F Tsurusaki, Y., 1989F Tukiainen, T., 18 Tulgar Kinik, S., 2436F Turan, N., 505T Turkgenc, B., 2039T Turner, A., 566T Turner, A. N., 482W Turner, T. N., 328 Twigg, S. R. F., 175 Tzeng, J. Y., 1266W Tzika, A., 30
U Uddin, M., 386 Uehara, D., 2401W Uhl, G. R., 856F Ukraintseva, S., 837T Umbarger, M., 2125F Umićević Mirkov, M., 772F Umrigar, A., 2473W Unal Gulsuner, H., 2892T Upadhyay, K., 2664T Urban, A., 3138T Urban, Z., 2955T
Urbanowicz, R. J., 1729W Urraca, N., 463T Ursini, G., 1199W Uusküla-Reimand, L., 3112T Uysal, F., 625W Uzilov, A., 2707W Uzun, A., 1772T
V Vaccarella, C., 2086W Vadgama, N., 724F Vaezeslami, S., 2099T Vahidnezhad, H., 2878F Vaillancourt, K., 422F Valdés, K. L., 1752F van Belzen, M. J., 2124T Van Broeckhoven, C., 105 Vance, J., 3149F Vandenbergh, D. J., 981T van den Ouweland, A. M. W., 2972W van der Maarel, S. M., 2943T Van-Gils, J., 1117F Van Hummelen, P., 2708T van Rheenen, W., 1083T van Zuydam, N. R., 590T Vardarajan, B. N., 1153F Varga, T. V., 574W Varughese, B., 2286F Vasconcelos, L. R. S., 423T Vasilescu, C., 2893F Vassy, J. L., 256 Vasudeva, N., 585F Vattikuti, S., 1648W Vazquez, A. I., 1340F Vazquez, L., 871F Veerapen, M. K., 2144T Veeraraghavan, N., 1684W Velagaleti, G., 2516F Velasco, H. M., 2479W Vélez, J. I., 1068T Velez Edwards, D. R., 1539W Vengoechea, J., 1946T Venkateshwari, A., 2116T Venturini, C., 904F Verdi, H., 798T Verdugo, R. A., 602T Vergano, S. A. S., 2278F Vergara, C., 725W Verhoeven, V. J. M., 2829T Verma, A., 134 Verma, S., 1855W Vernon, H., 249 Vetrini, F., 2034F Vicente, C. T., 854W Victor, K., 2339T Vierstra, J., 3035F Vijai, J., 2624T Vikkula, M., 636F Vikstrom, K., 1990W Vilalta, A., 2747W Vilboux, T., 2395W Villani, A. C., 270 Vince, N., 3036T Vincent, J. B., 1140T
Session numbers follow speaker names; abstract/poster numbers follow author names.
SPEAKER/FIRST AUTHOR INDEX
Sorant, A. J. M., 1352F Sorte, H., 2939W Southgate, L., 2956F Souza, B. B., 755W Souza, E. M. S. M. M., 2457F Souzeau, E., 3008W Spalding, D., 1864W Sparsø, T., 3137F Spear, M. L., 666W Spielmann, M., Session 9 Spinella, J. F., 1800F Spracklen, C. N., 331 Squire, J. A., 2527F Squitti, R., 1931T Srinivasan, M., 1906W Sriretnakumar, V., 1164T Srivastava, RN., 2056W Srovnal, J., 2509F Stamoulis, G., 3026T Standish, K. A., 675T Stanfill, A., 1053T Stanford, J. L., 2760T Stankiewicz, P., 2501F Stanley, S. E., 176 Starita, L. M., 1 Stavropoulos, D. J., 264 Stein, M., 869W Steinberg, J., 997F Stein-O'Brien, G., 3074T Stessman, H., 202 Stevens, C. R., 752W Stewart, F., 1879W Stobdan, T., 3092T Stödberg, T., 64 Stokowski, R., 2104T Stoll, C., 2409F Stosser, M., 62 Strattan, J. S., 1672W Stuart, J., Session 6 Su, B., 1518T Su, M., 1500T Su, M. W., 1770F Su, Y., 1262F Subrahamanyam, D., 1242T Subramaniam, M., 1295F Sugden, L. A., 1534T Sugier, P.-E., 1410W Sujatha, M., 2021T Sul, J., 1378T Sulovari, A., 1096F Sun, N., 1208W Sun, W., 2012T Sun, Y., 2268F, 3119F Sunayana, S. B., 568W Sundseth, S. S., 3152T Sung, H., 624F Sung, Y., 312 Sunyaev, S., Session 81 Surampalli, A., 472W Surendran, P., 311 Sutton, V., Session 79 Suyundikov, A. A., 1695F Suzuki, S., 968W Svidnicki, P. V., 738T Swaminathan, B., 2623W Syed, H., 1673T Symoens, S., 3021T Szatkieiwcz, J., 1260W Szpiech, Z. A., 1535W
250 SPEAKER AND FIRST AUTHOR INDEX Vinkler, C., 2740T Viñuela, A., 3187F Viot, G., 2138T Visel, A., Session 9 Vitale, E., 828T Vitek, C. R., 2222F Vladimirova, A., 1661T Voisin, N., 2917F Volyanskyy, K., 1649T Vora, N., 2110T Voss-Hoynes, H., 1069F Vuzman, D., 146
W Wade, K. H., 1302W Wadelius, C., 851W Wadelius, M., 181 Wadley, A., 2452W Wagner, E., 739F Wagnon, J. L., 66 Wahl, M., 1569W Wajnrajch, M. P., 485T Waldman, Y., 1465W Walhout, M., Session 83 Walke, M., 2973T Walker, K., 1877T Walker, S., 1118W Wallace, S., 2166F Walters, R. K., 1439F Walz, K., 2796T Wan, Y., 521T Wang, B. T., 2143F Wang, C., 1119T Wang, G., 424F, 531F Wang, G. T., 35 Wang, H., Session 74, 558F, 1006F Wang, J., 34, 1779F, 1932F, 3005W Wang, J. R., 1651W Wang, L., 452F, 605T, 982F, 1220W, 1271F, 1705W Wang, M., 509T Wang, N., 876T Wang, N. H., 2909W Wang, O., 1895T Wang, P., 1428W Wang, Q., 952F Wang, R., 2923F Wang, S., 1411T Wang, SC., 1076W Wang, T., 396F, 2227F Wang, T. Y., 1753W Wang, W., 1886T Wang, X., 777T, 1146T, 1347W, 1907T, 2106T Wang, X. B., 586W Wang, Y., 441T, 976F, 1560T, 1746F, 1856T, 3089F Wang, Z., 1332W, 1426T, 1650F Ward, K., 150 Ware, J. S., 1274F Ware, S. M., 626T Warf, M. B., 2639W Warren, J., 1865T Wasiolek, R., 1737F
Watanabe, Y., 2382F Waterworth, D., 22 Watson, L. C., 2729W Webber, C., 1209T Webster, T., 1824F Weh, E. R., 2809F Wei, P., 1264T Wei, Q., 1831W Wei, Z., 1077T Weihbrecht, K., 2801W Weinberg, C. R., 1412F Weipert, C. M., 2167T Weiss, K., 2453T Weitzel, J. N., 85 Weitzel, K. W., 2228F Welch, J. A., 467T Wellek, S., 1366T Wen, X., 3177F Wen, Y., 1351T Wenneström, A., 913F Wenocur, A. S., 1802T Wertelecki, W., 2566W West, K. M., Session 80 Westra, H., 808F Whalley, J. P., 2541W Wheeler, E., 909T Wheeler, H. E., 3032T Whiffin, N., 1803F White, E. J., 2071W White, J., 3061F White, M. J., 1363T White, S. J., 1652T, 1942W Wiesner, G. L., 2748T Wiggs, E., 2306F Wiggs, J. L., 989W Wiita, A., 2033T Wijsman, E., Session 7 Wilbe, M., 2434W Willard, H. F., Session 42 Willems, S., 300 Willems, T., 1494T Willer, C., 162 Williams, J. L., 2191T Williams, M. S., 2249W Wilson, A. F., 1391F Wilson, B. J., 2252W Wilson, J., 1571W Wilson, N., 569T Wilson, S. G., 740W Wilson, SL., 2154T Wilson Sayres, M., 355 Winham, S., 460F Winkler, T. W., 1413W Wise, C. A., 281 Wiszniewski, W., 2857F Woerner, A., 1491W Wojcik, G. L., 1291T Wolfe, A., 2026W Wolfe, L., 2265T Wolffhechel, K., 1776F Wong, E., 1561W Wood, A. R., 199 Wood, K., 2786T Worley, K. C., 232 Wray, N., Session 2 Wu, C., 1680F Wu, C. C., 1384T, 2897W Wu, D., 2557W Wu, L., 2788T Wu, P. C., 32
Wu, Q., 1372T Wu, S., 1419W Wu, W., 2415F, 2619W Wu, Y., 330, 1301F Wuster, A., 1017T
X Xia, L. C., 1678W Xia, S., 2669W Xiao, C., 1653F Xiao, F., 1730T Xie, M., 2709W Xie, W., 1333T Xie, Y., 2926F Xing, J., 2284F Xiong, F., 2830F Xiong, M., 1403F Xu, C., 2724T Xu, H., 446F, 1217W, 1433F Xu, K., 428F, 1414T Xu, M., 2901T Xu, S., 1536T Xu, X., 1663W Xu, Z., 1654W Xue, C., 3048T Xue, Y., 1964T
Y Yachelevich, N., 2363T Yadav, A., 2665W Yajnik, P., 1353W Yalcin, B., 1195F Yamagata, Z., 2186F Yamaguchi-Kabata, Y., 1508T Yamazawa, K., 429T Yan, J., 1221T Yan, Q., 425T Yanek, L. R., 1473W Yang, H., 785W, 3154T Yang, J., 942T Yang, L., 1474T Yang, M., 1227T Yang, N. Y., 905W Yang, R., 1804W Yang, S., 1097W, 2340F Yang, X. H., 1655T Yang, Y., 27, 2910T Yang, Z., 1866F Yano, S., 2321T Yao, A., 1731F Yao, H., 260 Yassaee, V. R., 2711W Yasui, Y., 1420T Yasunami, M., 773W Yaykasli, K. O., 2674T Yazdanpanahi, N., 2092W Ye, C., Session 77 Ye, K., 1528T Ye, X., 2763W Yeh, H., 1935F Yen, J., 1734F Yenamandra, A., 2730T Yesil, G., 2459T Yi, L., 380 Yigit, E., 1898T
Yin, P., 667T Yin, XY., 953W Yntema, H. G., 1982T Yokoi, T., 2805T Yong, E., Session 23 Yoshimura, M., 648W You, J., 2839F Young, A. I., 170 Young, E. L., 2787W Young, K. L., 742F Youngblom, E., 210 Yourshaw, M., 753T Yousaf, S., 2894W Youssefian, L., 2806F Yracheta, J., Session 80 Yu, A. C., 2385F Yu, B., 632T Yu, D., 1165F Yu, F., 426F Yu, G., 2590T Yu, H., 145, 522F Yu, J., 451T, 2174F, 3100T Yu, K., 2666T Yu, L., 711T Yu, P., 1656F Yu, S., 2800F Yu, T. W., 1120F Yu, X., 2895T Yu, Y., 2620T Yuan, B., 3139F Yuan, H., 2027T Yuan, Q., 858T Yuen, R. K. C., 1121W
Z Zablotskaya, A., 1253W Zaghlool, A., 754F Zaghloul, N., 559W Zaidi, A. A., 1519W Zajac, G. J. M., 1368W Zallen, D. T., 127 Zambrano, R., 2478F Zanardo, E. A., 2000T Zare, A. S., 1965F Zariwala, M. A., 1920F Zarrei, M., 760F Zaslav, A., 2731W Zavala, V. A., 3050T Zayats, T., 1098T Zaykin, D. V., 914W Zelinger, L., 3059F Zeng, C., 3162T Zhang, D., 766F, 1658T Zhang, F., 1404W, 1732W, 1896F, 3062T Zhang, H., 427T, 1448T Zhang, J., 83, 1659F, 1999W Zhang, L., 3140T Zhang, M., 2621W Zhang, N., 1130W Zhang, P., 3159F Zhang, R., 562W Zhang, T., 1429T Zhang, W., 2753W Zhang, X., 442F Zhang, XM., 1542T Zhang, Y., 906T, 1773F,
Session numbers follow speaker names; abstract/poster numbers follow author names.
SPEAKER AND FIRST AUTHOR INDEX 251
Session numbers follow speaker names; abstract/poster numbers follow author names.
SPEAKER/FIRST AUTHOR INDEX
2741W, 2940T Zhang, Z., 1657W Zhao, H., 1687W Zhao, J., 2454F, 2636T Zhao, J. H., 877F Zhao, L., 1692F Zhao, M., 2871T Zhao, N., 1421F Zhao, X., 2710T, 3016F Zhao, Z., 360 Zheng, J., 1892T Zheng, Y., 1805T Zheng-Bradley, X., 1841T Zhou, H., 1296W Zhou, L., 1321T Zhou, Q., 1452T, 2847T Zhou, S., 1466T Zhou, W., 786T Zhou, X., 1422W Zhou, Y., 1054F Zhu, A. B., 1733T Zhu, L., 855T Zhu, X., 635T, 1334F Zhu, X. J., 2911F Zhu, Y., 1423T Zia, A., 2332F Ziegler, S. G., 2266F Zielinski, D., 3180T Zimran, A., 486W Zishui, F., 2016F Ziv, E., 1369T Zolkipli Cunningham, Z., 2261W Zondervan, K., Session 5 Zook, J. M., 229 Zou, J. Y., 1467W Zou, WB., 824W Zou, Y. S., 2725W Zubair, N., 2622T Zubeda, S., 2761W Zweier, C., 3006T Zwingerman, N., 530T
NOTES
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Ceremony and Lecture altimore Convention Center
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Ceremony ecture 1 00-1
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CRISPR-Cas9 Genome diting rigins and Development of a Revolutionary Technology
mmanuelle Charpentier
elmholtz Centre for Infection Research raunschweig, Germany
ennifer Doudna
niversity of California erkeley, nited States
he Genetics Prize is awarded annually by he Gruber Foundation. he Genetics Prize is presented to a leading scientist, or up to three, in recognition of groundbreaking contributions to any realm of genetics research. he recipients will receive a gold laureate pin and will share the , unrestricted cash award.
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For further information see gruber.yale.edu
Charpentier and Doudna are being recognized for their joint creation of a revolutionary gene-editing technology known as CRISPR-Cas9, which functions as a molecular scissor, generating doublestranded cuts in targeted DNA molecules with exceptional precision. The technology is being used around the world to advance biological research and to engineer genes for developing powerful new therapies for a wide range of human diseases, as well as new biofuels and agricultural products.
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, Victor Ambros, David Baulcombe, Gary Ruvkun.
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