VRS tutorials: an introduction to the GA4GH Variation Representation Specification

29 Jun 2022

The GA4GH Variation Representation Specification (VRS) team is creating a series of educational videos on the VRS standard.

In this first instalment, Larry Babb (Broad Institute, ClinGen, VRS Co-Lead) and Alex Wagner (Nationwide Children’s Hospital, VICC, VRS Co-Lead) provide an introduction to the current landscape of variation representation, key challenges in this space, and how VRS can help. Stay tuned for more videos!

More on VRS: VRS​ provides a flexible framework of computational models, schemas, and algorithms to precisely and consistently exchange genetic variation data across communities. VRS aims to improve the reliability and utility of the clinical annotations that are central to personalised medicine. The specification, which was developed with input from national information resource providers, major public initiatives, and diagnostic testing laboratories, significantly reduces ambiguity in exchanging variation data. Learn more:

—read the VRS standard: vrs.ga4gh.org

—read the VRSATILE extensions: vrsatile.readthedocs.org

—visit: www.ga4gh.org