ASHG 2017 Tipsheet: Improving Genetic Variant Interpretation and Association

For Immediate Release
Wednesday, October 4, 2017
10:00 a.m. U.S. Eastern Time

Media Contact:
Nalini Padmanabhan
ASHG Director of Communications and Marketing


Tuesday through Saturday, Oct. 17-21, 2017


American Society of Human Genetics 2017 Annual Meeting
Orange County Convention Center
9899 International Drive, Orlando, FL 32819


Invited and platform (oral) sessions and other presentations of the latest research in improving genetic variant interpretation and association:

Wednesday, Oct. 18, 11:00 a.m.-12:30 p.m., Room 230C, South Building
Platform Session: Advances in Association Analysis
Moderators: Leyao Wang, Yale University; and Ching-Ti Liu, Boston University

Wednesday, Oct. 18, 11:00 a.m.-12:30 p.m., Room 230G, South Building
Platform Session: Strategies for Variant Interpretation
Moderators: Caroline Astbury, Cleveland Clinic; and Lora Bean, Emory University

Wednesday, Oct. 18, 11:00 a.m.-12:30 p.m., Room 310A, South Building
Platform Session: From Association to Function for Cardiometabolic Traits
Moderators: Erik Ingelsson, Stanford University; and Ron Do, Icahn School of Medicine

Thursday, Oct. 19, 9:00-10:30 a.m., Room 320, South Building
Platform Session: High Throughput Functional Analysis of Enhancers and Variants
Moderators: Timothy Reddy, Duke University; and Ryan Tewhey, Jackson Laboratory

Thursday, Oct. 19, 9:00-10:30 a.m., Room 330A, South Building
Platform Session: Genetic Architecture of Rare Variants Across Diseases
Moderators: Alper Uzun, Women & Infants Hospital; and Di Zhang, Baylor College of Medicine

Thursday, Oct. 19, 11:00 a.m.-12:30 p.m., Room 230C, South Building
Platform Session: Defining High Risk in Cancer
Moderators: Nicola Camp, University of Utah; and Sylvia Casadei, University of Washington

Thursday, Oct. 19, 4:15-6:15 p.m., Room 330A, South Building
Invited Session: Clinical Spotlight: VUS-busters: Cutting-edge Strategies for Interpreting Variants in Clinical and Research Sequencing
Moderators: Daniel C. Koboldt, Nationwide Children’s Hospital; and Aaron Quinlan, University of Utah

Friday, Oct. 20, 9:00-10:00 a.m., Room 230C, South Building
Platform Session: Data Sharing to Improve Genomic Variant Interpretation
Moderators: Ross Rowsey, Mayo Clinic; and Lisa Vincent, GeneDx, Inc.

Friday, Oct. 20, 10:15-11:15 a.m., Room 330C, South Building
Platform Session: Transcriptomic Analysis of Genetic Variation and Disease
Moderators: Graham McVicker, Salk Institute of Biological Sciences; and Margaret Taub, Johns Hopkins University

Friday, Oct. 20, 5:15-5:30 p.m., South Hall B, South Building
ASHG Early Career Award Presentation and Lecture: Using Large Scale Genomic Databases to Improve Disease Variant Interpretation
D.G. MacArthur, Massachusetts General Hospital/Harvard Medical School, Broad Institute of MIT and Harvard

Saturday, Oct. 21, 8:30-9:30 a.m., Room 220F, South Building
Platform Session: Modelling Candidate Disease Variants in Cellular and Animal Models
Moderators: Katherina Walz, University of Miami; and Michael Wangler, Baylor College of Medicine

Saturday, Oct. 21, 9:45-10:45 a.m., Room 220F, South Building
Platform Session: Improved Interpretation of Missense Variants
Moderators: James Ware, Imperial College London; and Kaitlin Samocha, Wellcome Trust Sanger Institute

Ongoing: Posters Open for Viewing, Exhibit Hall, South Building
Topics: Bioinformatics and Computational Approaches, Posters 1181-1457; Molecular and Cytogenetic Diagnostics, Posters 2370-2601

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:

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