Introduction to the GA4GH Variation Representation Specification (VRS)

Description

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