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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)

 

 

ASHG 2016 Tipsheet: Precision Medicine and Electronic Health Records

 

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

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

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

 

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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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