The GA4GH Variation Representation Specification: A computational framework for variation representation and federated identification.

ABSTRACT: Maximizing the personal, public, research, and clinical value of genomic information will require the reliable exchange of genetic variation data. We report here the Variation Representation Specification (VRS, pronounced "verse"), an extensible framework for the computable representation of variation that complements contemporary human-readable and flat file standards for genomic variation representation. VRS provides semantically precise representations of variation and leverages this design to enable federated identification of biomolecular variation with globally consistent and unique computed identifiers. The VRS framework includes a terminology and information model, machine-readable schema, data sharing conventions, and a reference implementation, each of which is intended to be bro

SUBMITTER: Wagner AH 

PROVIDER: S-EPMC8929418 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature