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The GA4GH Variation Representation Specification (VRS): a Computational Framework for the Precise Representation and Federated Identification of Molecular Variation
View ORCID ProfileAlex H Wagner, View ORCID ProfileLawrence Babb, View ORCID ProfileGil Alterovitz, View ORCID ProfileMichael Baudis, View ORCID ProfileMatthew Brush, View ORCID ProfileDaniel L Cameron, View ORCID ProfileMelissa Cline, View ORCID ProfileMalachi Griffith, View ORCID ProfileObi L Griffith, View ORCID ProfileSarah Hunt, David Kreda, Jennifer Lee, Javier Lopez, View ORCID ProfileEric Moyer, Tristan Nelson, View ORCID ProfileRonak Y Patel, View ORCID ProfileKevin Riehle, Peter N Robinson, Shawn Rynearson, View ORCID ProfileHelen Schuilenburg, View ORCID ProfileKirill Tsukanov, View ORCID ProfileBrian Walsh, View ORCID ProfileMelissa Konopko, View ORCID ProfileHeidi Rehm, View ORCID ProfileAndrew D Yates, View ORCID ProfileRobert R Freimuth, View ORCID ProfileReece K Hart
doi: https://doi.org/10.1101/2021.01.15.426843
Alex H Wagner
1The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children’s Hospital, Columbus, OH 43215, USA
2Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH 43210, USA
Lawrence Babb
3Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA
Gil Alterovitz
4Department of Medicine, Brigham and Women’s Hospital, Boston, MA 02115, USA
5Harvard Medical School, Boston, MA 02115, USA
Michael Baudis
6University of Zurich and Swiss Institute of Bioinformatics, Zurich, Switzerland
Matthew Brush
7Oregon Health & Science University, Portland, OR 97239, USA
Daniel L Cameron
8Bioinformatics Division, Walter and Eliza Hall Institute of Medical Research, Melbourne, Australia
9Department of Medical Biology, University of Melbourne, Melbourne, Australia
Melissa Cline
10UC Santa Cruz Genomics Institute, Santa Cruz, CA 95060, USA
Malachi Griffith
11Washington University School of Medicine, St. Louis, MO 63108, USA
Obi L Griffith
11Washington University School of Medicine, St. Louis, MO 63108, USA
Sarah Hunt
12European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SD, UK
David Kreda
13Department of Biomedical Informatics, Harvard Medical School, Boston MA 02115, USA
Jennifer Lee
14Essex Management LLC and National Cancer Institute, Rockville, MD 20850, USA
Javier Lopez
15Genomics England, London EC1M 6BQ, UK
Eric Moyer
16National Center for Biotechnology Information, National Library of Medicine National Institutes of Health, Bethesda, MD 20894, USA
Tristan Nelson
17Gesinger Health, Danville, PA 17822, USA
Ronak Y Patel
18Baylor College of Medicine, Houston, TX 77030, USA
Kevin Riehle
18Baylor College of Medicine, Houston, TX 77030, USA
Peter N Robinson
19Jackson Laboratory for Genomic Medicine, Farmington, CT 06032, USA
Shawn Rynearson
20Utah Center for Genetic Discovery, University of Utah, Salt Lake City, UT 84112, USA
Helen Schuilenburg
12European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SD, UK
Kirill Tsukanov
12European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SD, UK
Brian Walsh
7Oregon Health & Science University, Portland, OR 97239, USA
Melissa Konopko
21The Global Alliance for Genomics and Health, Torongto, Ontario, Canada
Heidi Rehm
3Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA
22Center for Genomic Medicine, Massachusetts General Hospital, Cambridge, MA 02142, USA
Andrew D Yates
12European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SD, UK
Robert R Freimuth
23Center for Individualized Medicine, Division of Digital Health Sciences, Mayo Clinic, Rochester, MN 55905, USA
Reece K Hart
3Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA
24MyOme, Inc., San Carlos, CA 94070, USA

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Posted January 17, 2021.
The GA4GH Variation Representation Specification (VRS): a Computational Framework for the Precise Representation and Federated Identification of Molecular Variation
Alex H Wagner, Lawrence Babb, Gil Alterovitz, Michael Baudis, Matthew Brush, Daniel L Cameron, Melissa Cline, Malachi Griffith, Obi L Griffith, Sarah Hunt, David Kreda, Jennifer Lee, 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 Rehm, Andrew D Yates, Robert R Freimuth, Reece K Hart
bioRxiv 2021.01.15.426843; doi: https://doi.org/10.1101/2021.01.15.426843
The GA4GH Variation Representation Specification (VRS): a Computational Framework for the Precise Representation and Federated Identification of Molecular Variation
Alex H Wagner, Lawrence Babb, Gil Alterovitz, Michael Baudis, Matthew Brush, Daniel L Cameron, Melissa Cline, Malachi Griffith, Obi L Griffith, Sarah Hunt, David Kreda, Jennifer Lee, 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 Rehm, Andrew D Yates, Robert R Freimuth, Reece K Hart
bioRxiv 2021.01.15.426843; doi: https://doi.org/10.1101/2021.01.15.426843
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