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
Registration is required
2026 GREGoR at ASHG Registration Form - there is no fee to attend
Lunch (assorted meal bowls including vegetarian options) and beverages will be provided
The GREGoR Consortium (Genomics Research to Elucidate the Genetics of Rare diseases) and AnVIL (NHGRI's Genomic Data Science Analysis, Visualization, and Informatics Lab-Space) are pleased to co-host an ancillary event at the 2026 ASHG Annual Meeting. You are invited to join us for lunch and to learn more about GREGoR’s latest multi-omic dataset along with new tools and AnVIL’s cloud-based environments, which we use to support our efforts to develop and apply approaches to discover the cause of currently unexplained rare genetic disorders. The GREGoR Dataset is available on AnVIL for General Research and Health/Medical/Biomedical research.
Participants in this session will come away with a better understanding of the GREGoR Consortium Dataset, its interoperability features, and how to access and work with it on the AnVIL platform.
Agenda
12:00 pm: Gathering and Social time
12:20 pm: “The Latest Data Release from the GREGoR Consortium”, Dr. Ben Heavner (GREGoR Consortium Data Coordinating Center, University of Washington)
12:40 pm: “Integrating Data, Analytical Tools, and Collaboration for Rare Disease Discovery with AnVIL" Dr. Michael Schatz (AnVIL, Johns Hopkins University)
1:00 pm: "Tools for rare disease diagnosis: seqr genomic analysis platform, scalable automated reanalysis and federated variant level matching" Dr. Heidi Rehm (Broad Institute Center for Mendelian Genomics, GREGoR Consortium)
1:20 pm: Q&A, Social time
See all GREGoR abstracts at ASHG 2026
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