Media Contact:
Nalini Padmanabhan
ASHG Communications Manager
301.634.7346
press@ashg.org
For Immediate Release
Monday, October 3, 2016
12:00 pm U.S. Eastern Time (UTC-05:00)
WHEN:
Tuesday through Saturday, Oct. 18-22, 2016
WHERE:
American Society of Human Genetics 2016 Annual Meeting
Vancouver Convention Centre
999-1055 Canada Place, Vancouver, B.C. V6C 0C3
WHAT:
Invited and platform (oral) sessions and other presentations of the latest research to develop precision medicine and leverage electronic health records:
Wednesday, Oct. 19, 10:15-10:30 am, Ballroom A, West Building
Platform Presentation: Towards precise genetic diagnosis of human diseases: Experience with POLG-related disorders
R. Bai, GeneDx Inc., et al
Wednesday, Oct. 19, 9:00-10:30 am, Ballroom B, West Building
Platform Session: Insights from large cohorts: Part 1
Moderators: Augusto Rendon, Genomics England; and Laurent C. Francioli, Massachusetts General Hospital
- 9:00-9:15 am: Distribution and clinical impact of functional variants in 50,726 whole exome sequences from the DiscovEHR study F. Dewey, Regeneron Genetics Center, et al
- 10:15-10:30 am: The public sharing of genomic data from the DiscovEHR Collaboration
M.D. Ritchie, Geisinger Health System, et al
Wednesday, Oct. 19, 10:15-10:30 am, Ballroom C, West Building
Platform Presentation: Ascertainment bias in predicting genetic disease risks
J. Lachance, Georgia Institute of Technology, et al
Wednesday, Oct. 19, 10:15-10:30 am, Room 211, West Building
Platform Presentation: Analysis of BMI using whole exome sequence from 49,178 individuals from the Geisinger Health System DiscovEHR study
A.H. Li, Regeneron Genetics Center, et al
Wednesday, Oct. 19, 11:00 am-1:00 pm, Ballroom B, West Building
Invited Session: From GWAS and Mendelian genes to therapeutic drug targets
Moderators: Margaret G. Ehm, GlaxoSmithKline; and Nancy J. Cox, Vanderbilt University
Thursday, Oct. 20, 10:15-10:30 am, Room 207, West Building
Platform Presentation: Characterization of a new class of disease-causing variants unresponsive to current CFTR targeted therapies
S.T. Han, Johns Hopkins University, et al
Thursday, Oct. 20, 11:00 am-1:00 pm, Ballroom B, West Building
Platform Session: Insights from large cohorts: Part 2
Moderators: Mingyao Li, University of Pennsylvania; and Bingshan Li, Vanderbilt University
- 11:00-11:15 am: De-novo reconstruction of more than 6,000 pedigrees discovered from 51K de-identified exomes within the DiscovEHR cohort J. Staples, Regeneron Genetics Center, et al
- 12:00-12:15 pm: A large genome-wide study of age-related hearing impairment using electronic health records
T.J. Hoffmann, UCSF, et al - 12:15-12:30 pm: Identifying disease-causing genes that act through complementary modes of regulatory elements and protein altering variants in DNA samples linked to electronic medical recordsX. Zhong, Vanderbilt Genetic Institute, et al
Saturday, Oct. 22, 10:45-11:00 am, Ballroom B, West Building
Platform Presentation: Personalized medicine for neurometabolic disorders via an integrated ‘-omics’ approach
C. van Karnebeek, University of British Columbia, et al
Saturday, Oct. 22, 11:00-11:15 am, Room 119, West Building
Platform Presentation: Mutation spectrum of NOD2 in an early-onset inflammatory bowel disease cohort reveals recessive Mendelian inheritance as a main driver of Crohn’s Disease
J.E. Horowitz, Regeneron Genetics Center, et al
Saturday, Oct. 22, 11:15-11:30 am, Room 302, West Building
Platform Presentation: Identification of recurrent copy number variants associated with developmental brain disorders from whole exome sequencing of 47,859 participants in the DiscovEHR study
A.E. Hare-Harris, Geisinger Health System, et al
Ongoing: Posters Open for Viewing, Exhibit Hall B, West Building
Complex Traits and Polygenic Disorders, Posters 1179F-1649T
Bioinformatics and Computational Approaches, Posters 1650F-1956F
Genetic Counseling, ELSI, Education, and Health Services Research, Posters 2990T-3133W
About the American Society of Human Genetics (ASHG)
Founded in 1948, the American Society of Human Genetics is the primary professional membership organization for human genetics specialists worldwide. Its nearly 8,000 members include researchers, academicians, clinicians, laboratory practice professionals, genetic counselors, nurses, and others with an interest in human genetics. The Society serves scientists, health professionals, and the public by providing forums to: (1) share research results through the ASHG Annual Meeting and in The American Journal of Human Genetics; (2) advance genetic research by advocating for research support; (3) educate current and future genetics professionals, health care providers, advocates, policymakers, educators, students, and the public about all aspects of human genetics; and (4) promote genetic services and support responsible social and scientific policies. For more information, visit: http://www.ashg.org.
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