PT  - JOURNAL ARTICLE
AU  - Wagner, Alex H
AU  - Babb, Lawrence
AU  - Alterovitz, Gil
AU  - Baudis, Michael
AU  - Brush, Matthew
AU  - Cameron, Daniel L
AU  - Cline, Melissa
AU  - Griffith, Malachi
AU  - Griffith, Obi L
AU  - Hunt, Sarah
AU  - Kreda, David
AU  - Lee, Jennifer
AU  - Lopez, Javier
AU  - Moyer, Eric
AU  - Nelson, Tristan
AU  - Patel, Ronak Y
AU  - Riehle, Kevin
AU  - Robinson, Peter N
AU  - Rynearson, Shawn
AU  - Schuilenburg, Helen
AU  - Tsukanov, Kirill
AU  - Walsh, Brian
AU  - Konopko, Melissa
AU  - Rehm, Heidi
AU  - Yates, Andrew D
AU  - Freimuth, Robert R
AU  - Hart, Reece K
TI  - The GA4GH Variation Representation Specification (VRS): a Computational Framework for the Precise Representation and Federated Identification of Molecular Variation
AID  - 10.1101/2021.01.15.426843
DP  - 2021 Jan 01
TA  - bioRxiv
PG  - 2021.01.15.426843
4099  - http://biorxiv.org/content/early/2021/01/17/2021.01.15.426843.short
4100  - http://biorxiv.org/content/early/2021/01/17/2021.01.15.426843.full
AB  - Maximizing the personal, public, research, and clinical value of genomic information will require that clinicians, researchers, and testing laboratories exchange genetic variation data reliably. Developed by a partnership among national information resource providers, public initiatives, and diagnostic testing laboratories under the auspices of the Global Alliance for Genomics and Health (GA4GH), the Variation Representation Specification (VRS, pronounced “verse”) is an extensible framework for the semantically precise and computable representation of variation that complements contemporary human-readable and flat file standards for variation representation. VRS objects are designed to be semantically precise representations of variation, and leverage this design to enable unique, federated identification of molecular variation. We describe the components of this framework, including the terminology and information model, schema, data sharing conventions, and a reference implementation, each of which is intended to be broadly useful and freely available for community use. The specification, documentation, examples, and community links are available at https://vrs.ga4gh.org/.Competing Interest StatementThe authors have declared no competing interest.