Introduction to the GA4GH Variation Representation Specification (VRS)

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The Variation Representation Specification (VRS) is a nascent standard of the Global Alliance for Genomics and Health (GA4GH) Genomic Knowledge Standards Work Stream, developed by a partnership among national information resource providers, public initiatives, and diagnostic testing laboratories. VRS provides an extensible framework for standardizing the computable representation of biomolecular variation across complex data types and variant information in sequence variant knowledgebases, complementing contemporary human-readable (e.g. HGVS) and flat file (VCF) standards. 

Join us for a one hour introductory bioinformatics webinar to the GA4GH VRS standard, led by the specification maintainers. The webinar will begin with an introductory overview of the features of VRS and its use in computational exchange of variant annotation and interpretation data. We will introduce you to open-source and online tools for generating and validating VRS variants, and work through interactive exercises demonstrating the use of VRS for small variants (e.g. SNVs and InDels), as well as complex variation such as haplotypes, genomic rearrangements, and copy number variants. The second half of the webinar will provide an overview of VRS as used for genomic evidence from databases such as gnomAD v4, MaveDB, ClinVar, and CIViC to computationally describe variant evidence for use in variant interpretation workflows. We will use VRS to find and collate data from these databases.

Overview of Presentation:

  • Learn how to use the GA4GH Variation Representation Specification (VRS)
  • Describe variants with VRS using open-source community tools
  • Search genomic evidence resources using VRS
  • Collate genomic knowledge using VRS

Alex Wagner, PhD

Principal Investigator

The Steve and Cindy Rasmussen Institute for Genomic Medicine (IGM) at Nationwide Children’s Hospital

Dr. Wagner is a Principal Investigator at The Steve and Cindy Rasmussen Institute for Genomic Medicine (IGM) at Nationwide Children’s Hospital. He analyzed the content of multiple public knowledgebases of the Variant Interpretation for Cancer Consortium (VICC) and demonstrated the need for data standards and supporting tools for genomic knowledge sharing and reuse. From this work, he took on the development and application of genomic knowledge standards under the auspices of the Global Alliance for Genomics and Health (GA4GH). In 2021, Dr. Wagner was recognized by the National Human Genome Research Institute (NHGRI) as an NHGRI Genomic Innovator for his work in this area. He currently holds leadership and/or invited positions in multiple national and international consortia, including GA4GH, the NIH Bridge2AI program, the HGVS Variant Nomenclature Committee, and the Variant Interpretation for Cancer Consortium (VICC).

Lawrence Babb

Senior Principal Software Engineer

Broad Institute of MIT and Harvard

Since August 2018, Mr. Babb has served as a Senior Principal Software Engineer at the Broad Institute of MIT and Harvard. The last 20 years of his 40-year software engineering career has centered on creating software tools and interoperable data standards to enhance genetic testing in clinical settings. Mr. Babb specializes in data modeling and standards development, particularly in applying genomic knowledge to test results. Mr. Babb co-leads the GA4GH Genomic Knowledge Standards and the ClinGen Data Platform Workgroup, promoting open-data sharing in genomics. Additionally, Mr. Babb manages software teams for ClinGen and the Translational Genomics Group at Broad.

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Introduction to the GA4GH Variation Representation Specification (VRS)
07/17/2024 at 12:00 PM (EDT)  |  Recorded On: 07/17/2024  |  60 minutes  |   Closed captions available
07/17/2024 at 12:00 PM (EDT)  |  Recorded On: 07/17/2024  |  60 minutes  |   Closed captions available