@article{febbd7860600445a947a71fae638a493,
title = "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 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).",
keywords = "computed identifiers, data exchange, federated identification, GA4GH, genomics, standard, value objects, variant, variation, VOCA",
author = "Alex Wagner and Lawrence Babb and Gil Alterovitz and Michael Baudis and Matthew Brush and Cameron, {Daniel L.} and Melissa Cline and Malachi Griffith and Griffith, {Obi L.} and Hunt, {Sarah E.} and David Kreda and Lee, {Jennifer M.} and Stephanie Li and Javier Lopez and Eric Moyer and Tristan Nelson and Patel, {Ronak Y.} and Kevin Riehle and Robinson, {Peter N.} and Shawn Rynearson and Helen Schuilenburg and Kirill Tsukanov and Brian Walsh and Melissa Konopko and Rehm, {Heidi L.} and Yates, {Andrew D.} and Freimuth, {Robert R.} and Hart, {Reece K.}",
note = "Funding Information: The authors thank Christopher Bizon (Renaissance Computing Institute), Karen Eilbeck (University of Utah), Cristina Y. Gonzalez, Tim Hefferon (NCBI), Brad Holmes (NCBI), Anna Lu (National Cancer Institute), Donna R. Maglott (NCBI), Christa Lese Martin (Geisinger), and Lon Phan (NCBI) for important discussions and critical feedback that substantially advanced this work. The authors also thank Ewan Birney (GA4GH, European Molecular Biology Laboratory, European Bioinformatics Institute), Peter Goodhand (GA4GH), and Angela Page (GA4GH) for providing organizational support that enabled this work. A.H.W. was supported by [K99HG010157], [R00HG010157], [R35HG011949] and [U24CA237719]. L.B. and H.L.R. were supported by [U41HG006834] and [U24HG011025]. M.B. was supported by the BioMedIT Network project of SIB & SPHN. M.C. was supported by [ U01CA242954 ]. M.G. was supported by [ R00HG007940 ]. O.L.G. was supported by [ U24CA237719 ]. S.E.H., H.S., K.T., and A.D.Y. were supported by the Wellcome Trust [ WT108749/Z/15/Z ] and [ WT201535/Z/16/Z ] and the European Molecular Biology Laboratory . E.M. was supported by the Intramural Research Program of the National Institutes of Health, National Library of Medicine . R.Y.P. and K.R. were supported by [ U41HG009650 ]. R.R.F. was supported by [ U41HG006834 ] and the Mayo Clinic Center for Individualized Medicine . R.K.H. was supported by ClinGen [ U41HG006834 ], Invitae , and MyOme . This research was funded in part by the Wellcome Trust [ WT108749/Z/15/Z ] and [ WT201535/Z/16/Z ]. For the purpose of open access, the author has applied a CC BY public copyright license to any Author Accepted Manuscript version arising from this submission. Funding Information: The authors thank Christopher Bizon (Renaissance Computing Institute), Karen Eilbeck (University of Utah), Cristina Y. Gonzalez, Tim Hefferon (NCBI), Brad Holmes (NCBI), Anna Lu (National Cancer Institute), Donna R. Maglott (NCBI), Christa Lese Martin (Geisinger), and Lon Phan (NCBI) for important discussions and critical feedback that substantially advanced this work. The authors also thank Ewan Birney (GA4GH, European Molecular Biology Laboratory, European Bioinformatics Institute), Peter Goodhand (GA4GH), and Angela Page (GA4GH) for providing organizational support that enabled this work. A.H.W. was supported by [K99HG010157], [R00HG010157], [R35HG011949] and [U24CA237719]. L.B. and H.L.R. were supported by [U41HG006834] and [U24HG011025]. M.B. was supported by the BioMedIT Network project of SIB & SPHN. M.C. was supported by [U01CA242954]. M.G. was supported by [R00HG007940]. O.L.G. was supported by [U24CA237719]. S.E.H. H.S. K.T. and A.D.Y. were supported by the Wellcome Trust [WT108749/Z/15/Z] and [WT201535/Z/16/Z] and the European Molecular Biology Laboratory. E.M. was supported by the Intramural Research Program of the National Institutes of Health, National Library of Medicine. R.Y.P. and K.R. were supported by [U41HG009650]. R.R.F. was supported by [U41HG006834] and the Mayo Clinic Center for Individualized Medicine. R.K.H. was supported by ClinGen [U41HG006834], Invitae, and MyOme. This research was funded in part by the Wellcome Trust [WT108749/Z/15/Z] and [WT201535/Z/16/Z]. For the purpose of open access, the author has applied a CC BY public copyright license to any Author Accepted Manuscript version arising from this submission. Author contributions follow the Contributor Roles Taxonomy (CRediT) conventions. A.H.W. L.B. G.A. M. Baudis, M. Brush, D.L.C. M.C. O.L.G. S.E.H. D.K. J.M.L. J.L. E.M. T.N. R.Y.P. K.R. S.R. H.S. K.T. A.D.Y. R.R.F. and R.K.H. contributed to conceptualization. A.H.W. L.B. G.A. D.L.C. J.M.L. T.N. S.R. K.T. R.R.F. and R.K.H. contributed to methodology. A.H.W. L.B. M.C. E.M. T.N. R.Y.P. K.R. S.R. B.W. and R.K.H. contributed to software. R.Y.P. K.R. B.W. and R.K.H. contributed to validation. A.H.W. L.B. D.L.C. and R.K.H. contributed to formal analysis. A.H.W. L.B. G.A. E.M. T.N. R.R.F. and R.K.H. contributed to investigation. A.H.W. L.B. G.A. M. Baudis, M.C. R.Y.P. and K.R. contributed to resources. A.H.W. L.B. M. Baudis, and R.K.H. contributed to data curation. A.H.W. and R.K.H. contributed to writing - original draft. A.H.W. L.B. G.A. M. Baudis, M. Brush, M.C. M.G. O.L.G. S.E.H. D.K. J.M.L. S.L. J.L. E.M. T.N. K.R. P.N.R. H.S. K.T. M.K. H.L.R. A.D.Y. R.R.F. and R.K.H. contributed to writing - review & editing. A.H.W. L.B. S.L. R.R.F. and R.K.H. contributed to visualization. L.B. M. Baudis, M.G. O.L.G. M.K. H.L.R. A.D.Y. R.R.F. and R.K.H. contributed to supervision. A.H.W. L.B. M. Baudis, M.K. H.L.R. A.D.Y. R.R.F. and R.K.H. contributed to project administration. A.H.W. L.B. O.L.G. H.L.R. A.D.Y. R.R.F. and R.K.H. contributed to funding acquisition. H.L.R. is a member of the advisory board for Cell Genomics. Publisher Copyright: {\textcopyright} 2021 The Authors",
year = "2021",
month = nov,
day = "10",
doi = "10.1016/j.xgen.2021.100027",
language = "English",
volume = "1",
journal = "Cell Genomics",
issn = "2666-979X",
number = "2",
}