Standardised variation exchange webinar: using VRS to share genetic variant data in modern systems

13 May 2021

The GA4GH Genomic Knowledge Standards Work Stream will host an interactive webinar on Wednesday, June 2 at 19:00 UTC to support the community in using the GA4GH Variation Representation Specification, or VRS.

The GA4GH Genomic Knowledge Standards (GKS) Work Stream will host an interactive webinar on Wednesday, June 2 at 19:00 UTC to support the community in using the GA4GH Variation Representation Specification, or VRS (pronounced “verse”). This webinar is a part of a series organized by the Genomics in Health Implementation Forum (GHIF), which aims to support the genomics and health community in implementing GA4GH standards.

Across research, translational, and clinical communities, genetic variation is often represented ambiguously—making it difficult to interpret and exchange this information for secondary use. In order to maximize the value of the world’s shared genetic variation data and advance genomic and precision medicine, VRS provides an extensible framework of computational models, schemas, and algorithms to precisely and consistently exchange this knowledge across communities. In conjunction with VRS, the team has developed VRSATILE—an initiative to guide the implementation of VRS in real-world scenarios.

This webinar is designed for individuals with a technical foundation interested in learning how VRS can tackle key challenges in storing and managing knowledge related to variants in modern systems. The session will begin with an introduction to VRS and VRSATILE, followed by discussion and exploration of any audience use cases. Attendees will walk away with:

• Clear understanding of the challenges VRS is designed to solve
• Specific use cases demonstrating where and when to apply VRS and VRSATILE
• The tools for implementing VRS and VRSATILE, including how to construct a VRS variation

To get the most out of the webinar and to help inform the discussion period, the team recommends sharing your current challenges with variation representation at registration. If you have any questions, please reach out to info [at] www.ga4gh.org.