The GA4GH Variation Representation Specification: A Computational Framework for Variation Representation and Federated Identification

Overview

Journal Cell Genom

Date 2022 Mar 21

PMID 35311178

Authors

Alex H Wagner

Lawrence Babb

Gil Alterovitz

Michael Baudis

Matthew Brush

Daniel L Cameron

Melissa Cline

Malachi Griffith

Obi L Griffith

Sarah E Hunt

David Kreda

Jennifer M Lee

Stephanie Li

Javier Lopez

Eric Moyer

Tristan Nelson

Ronak Y Patel

Kevin Riehle

Peter N Robinson

Shawn Rynearson

Helen Schuilenburg

Kirill Tsukanov

Brian Walsh

Melissa Konopko

Heidi L Rehm

Andrew D Yates

Robert R Freimuth

Reece K Hart

Affiliations

Soon will be listed here.

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 broadly useful and freely available for community use. VRS was 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).

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