See GREGoR Abstracts to be presented at ASHG 2025
See GREGoR's Flyer for ASHG 2025
GREGoR Ancillary Session on October 16th
This Ancillary Event provides an opportunity to learn more about the most recent data released by the Genomics Research to Elucidate the Genetics of Rare diseases (GREGoR) Consortium. We’ll be presenting information about the dataset - including the latest GA4GH Variant Annotation features, and features to support working with the data on the AnVIL platform. This dataset is designed to improve our understanding of the complex connections between genomic variation and disease trait manifestation, and is available for General Research and Health/Medical/Biomedical research.
Light refreshments will be provided, though guests are encouraged to bring lunch. Seating is limited to 150 participants.
Date & Time: Thursday, October 16th 11:45 am - 1:15 pm
Location: Thomas M. Menino Convention & Exhibition Center - Room 102AB
Agenda:
11:45 Gathering and Social time
11:50 Introductory Remarks, Dr. Ben Heavner, Senior Research Scientist, University of Washington GREGoR Data Coordinating Center
11:55 "AI-ready cohort allele frequency data from GREGoR using GA4GH Genomic Knowledge Standards" Dr. Alex Wagner (VRS)
12:20 "Genomics at scale with the NHGRI AnVIL" Dr. Mike Schatz (AnVIL)
12:45 “The Latest Data Release from the GREGoR Consortium”, Dr. Ben Heavner, Senior Research Scientist, University of Washington GREGoR Data Coordinating Center
1:05 Q/A, Social time
Featured Symposium on October 15th
Title: From Data to Diagnosis: Advancing Rare Disease Research through Collaborative Genomics
Date & Time: Thursday, October 15th 8:30 - 10:00 am ET
Location: Thomas M. Menino Convention & Exhibition Center - Room 210C
GREGoR’s experience in large-scale sequencing efforts and how these are aiding gene discovery and improving rare disease diagnostics will be discussed during this session. Also included: Summary of the advances in sequencing, including long-read and functional assays, for detecting complex structural and mosaic variants; Evaluation of how statistical models and bioinformatics refine variant interpretation and prioritize disease-associated genes.
See the link above for more information about the detailed agenda and speakers.
Questions about the GREGoR at ASHG: gregorconsortium@uw.edu
For Consortium Members
Submit your Abstract here if you're presenting a poster at ASHG 2025
If you/your group will be presenting a session, please let the DCC know of the session title, date and time, and the presenters from your group.
Past Events
GREGoR at ASHG 2024
2024 GREGoR Ancillary Session 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
See all GREGoR abstracts at ASHG 2024
GREGoR at ASHG 2023
2023 GREGoR Ancillary Session Agenda:
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