GREGoR at ASHG
GREGoR Ancillary Session
Title: Putting the pieces together: Multi-Omic Data from the GREGoR Consortium, Variant Matching with seqr, and Analysis with AnVIL
Location: Palais des Congrès de Montréal (Montréal Convention Centre) - Room 513DEF
Date & Time: Friday, October 23, 2026, 12:00 - 1:30 pm
Further details will be posted in the coming months, including a more detailed agenda and registration form to join this session.
Past Events
GREGoR at ASHG 2025
2025 GREGoR Ancillary Session:
11:45 Gathering and Social time
11:50 Introductory Remarks, Dr. Benjamin D. Heavner (GREGoR Data Coordinating Center)
11:55 AI-ready cohort allele frequency data from GREGoR using GA4GH Genomic Knowledge Standards, Dr. Alex Wagner (Nationwide Children’s)
12:20 Genomics at scale with the NHGRI AnVIL, Dr. Mike Schatz (AnVIL)
12:45 The Latest Data Release from the GREGoR Consortium, Dr. Benjamin D. Heavner (GREGoR Data Coordinating Center)
1:05 Q/A, Social time
Featured Symposium: From Data to Diagnosis: Advancing Rare Disease Research through Collaborative Genomics
8:30 Introduction & Opening Remarks, Edgar Rivera-Munoz (Baylor College of Medicine) and Elizabeth Dechene (Children’s Hospital of Philadelphia)
8:35 Accelerating the diagnosis of rare diseases, Stephen Montgomery (Stanford University)
8:50 Building Essential Resources for Structural Variant Prioritization, Interpretation, and Functional Characterization Using Long-Read Multi-Omics, Jonas Gustafson (University of Washington)
9:05 Applying statistical methods to identify new candidate disease-associated genes, Kaitlin Samocha (Massachusetts General Hospital)
9:20 Robust Phenotyping: Essential to Novel Disease Discovery, Ada Hamosh (McKusick-Nathans Institute of Genetic Medicine)
9:35 Panel Discussion/Q&A
9:55 Closing Remarks
Presentation: Sharing valuable rare disease and multiomic data through the GREGoR Consortium, Marsha Wheeler (GREGoR Data Coordinating Center)
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