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
