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Learn how GA4GH helps expand responsible genomic data use to benefit human health.
Variation Representation (VRS)
Used by computers to structure and exchange information about variants
Between any two individuals, the human genome differs by around 0.1% — meaning each individual has millions of sites in their genome that collectively make them unique. The impact of genetic variation on human health and disease is complex and immense; in order to accelerate research and advance patient care, it is vital to unlock the potential of the world’s genetic variation data and exchange it reliably across diagnostic labs, electronic health records (EHRs), research institutions, and knowledge-bases. Developed by the GA4GH Genomic Knowledge Standards (GKS) Work Stream, the Variation Representation Specification (VRS) is a computational “language” that enables consistent communication across these systems.
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Benefits
- Enables scalable federated computable exchange of genetic variants
- Allows interoperable reuse within other specifications due to its modular design
- Provides a framework for variation in linked data exchange
Target users
Researchers, clinicians, and clinical laboratories
Image summary: Learn how VRS improves interoperability between genomic data systems for the precise and extensible exchange of variant information.
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Work Stream
LATEST VERSION
Product Leads
- Alex Wagner
- Larry Babb
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Maximising the personal, public, research, and clinical value of genomic information will require clinicians, researchers, and testing laboratories to exchange genetic variation data reliably. VRS provides a community-developed specification to enable the precise representation and exchange of genetic variation data. The specification is designed to improve the reliability and utility of the clinical annotations that are central to personalised medicine, and consists of five components:
- An extensible terminology and information model containing precise computational definitions for biological concepts
- A machine readable schema to structure genetic variation data for electronic data exchange
- Conventions for reliable data sharing, allowing researchers to easily compare and interpret information across institutions
- Algorithms to generate globally unique computed identifiers to refer to a specific genetic variant without prior coordination
- A python implementation to demonstrate the VRS components in action
Date
Title
Info
16 Nov 2023
Join four new GA4GH groups to help shape guidelines for pandemic prep, schema consensus, sequencing metadata, and categorical variants
Date
Title
15 Dec 2023
14 Sep 2023
BRCA Challenge
Clinical Genome Resource (ClinGen)
Monarch Initiative
Variant Interpretation for Cancer Consortium (VICC)
Don't see your name? Get in touch:
- Larry Babb
Broad Institute of MIT and Harvard - Steven Brenner
University of California, Berkeley - Daniel Cameron
Walter and Eliza Hall Institute of Medical Research - Bimal Chaudhari
Nationwide Children’s Hospital - Melissa Cline
University of California, Santa Cruz - Raymond Dalgleish
University of Leicester - Kyle Ferriter
Broad Institute of MIT and Harvard - Robert Freimuth
Mayo Clinic - Wesley Goar
Nationwide Children’s Hospital - Malachi Griffith
The Genome Institute at Washington University, Variant Interpretation for Cancer Consortium (VICC) - Melissa Haendel
University of Colorado Anschutz Medical Campus - Reece Hart
MyOme - Seik-Soon Khor
National Center for Global Health and Medicine - Melissa Konopko
ELIXIR - Kori Kuzma
Nationwide Children’s Hospital - Jennifer Lee
Sequencing.com - Christa Lese Martin
Geisinger Health System - Xuelu (Jeff) Liu
Dana-Farber Cancer Institute - Anna Lu
NIH National Cancer Institute (NCI) - Eric Moyer
NIH National Center for Biotechnology Information (NCBI) - Tristan Nelson
Geisinger Health System - Vivek Nuthalapati
Epic Systems - Andreas Prlić
Invitae, Inc. - Heidi Rehm
Massachusetts General Hospital, Broad Institute of MIT and Harvard - Kevin Riehle
Baylor College of Medicine - Alan Rubin
Walter and Eliza Hall Institute of Medical Research - Anastasia Smith
Nationwide Children’s Hospital - Kathryn Stahl
Nationwide Children’s Hospital - James Stevenson
Nationwide Children’s Hospital - Jing Su
Wellcome Sanger Institute (WSI) - Mrinal Thomas
Epic Systems - Alex Wagner
Nationwide Children’s Hospital, Variant Interpretation for Cancer Consortium (VICC) - Brian Walsh
Knight Diagnostic Laboratories, Oregon Health & Science University - Ziying Yang
University of Zurich - Andy Yates
EMBL's European Bioinformatics Institute (EBI) - Zhenyu Zhang
University of Chicago - Hangjia Zhao
University of Zurich
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