GREGoR Ancillary Session
The Genomics Research to Elucidate the Genetics of Rare diseases (GREGoR) Consortium is pleased to host an ancillary event at the 2024 ASHG Annual Meeting. This event, held at the Room 107 of the Colorado Convention Center on Friday, Nov 8 from 11:45 AM to 1:15 PM, will include light refreshments and presentations from Dr. Jennifer E. Posey, Bioinformatics Engineer Paul Petrowski, and Dr. Benjamin D. Heavner. Dr. Posey will present “Rare disease as a substrate to uncover novel biology and inform diagnostics”, Mr. Petrowski will present “Introducing the GREGoR Variant Browser”, and Dr. Heavner will present “The GREGoR Consortium Dataset”. Participants in this session will come away with a better understanding of the GREGoR Consortium Dataset and our work to develop and apply new approaches to discover the cause of currently unexplained rare genetic disorders.
Register Here
Light refreshments will be provided and seating is limited to 100 participants
Date & Time: November 8, 2024 at 11:45 am - 1:15 pm MT
Location: Room 107, Colorado Convention Center
Agenda:
11:50 | Introductory remarks | Dr. Benjamin D. Heavner
11:55 | Rare disease as a substrate to uncover novel biology and inform diagnostics | Dr. Jennifer Ellen Posey
12:20 | Introducing the GREGoR Variant Browser | Mr. Paul Petrowski
12:45 | The GREGoR Consortium Dataset | Dr. Benjamin D. Heavner
Questions about the GREGoR at ASHG: gregorconsortium@uw.edu
Past Events
GREGoR at ASHG 2023
12:30 Introductory Remarks, Dr. Ben Heavner, GREGoR Data Coordinating Center
12:35 “Unraveling the Complex Connections between Genomic Variation and Disease Trait Manifestation”, Dr. Jennifer Posey, Baylor College of Medicine Research Center
1:00 “Expanding our understanding of human genetic variation through long-read sequencing of 1000 Genomes Project samples”, Dr. Danny Miller, University of Washington Center for Rare Disease Research
1:20 “Getting to know GREGoR Data in AnVIL”, Dr. Ben Heavner, GREGoR Data Coordinating Center
See all GREGoR abstracts at ASHG 2023
See GREGoR's Flyer for ASHG 2023