Article Information
History
- January 17, 2021.
Copyright
The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under a CC-BY 4.0 International license.
Author Information
- Alex H Wagner1,2,*,
- Lawrence Babb3,*,
- Gil Alterovitz4,5,
- Michael Baudis6,
- Matthew Brush7,
- Daniel L Cameron8,9,
- Melissa Cline10,
- Malachi Griffith11,
- Obi L Griffith11,
- Sarah Hunt12,
- David Kreda13,
- Jennifer Lee14,
- Javier Lopez15,
- Eric Moyer16,
- Tristan Nelson17,
- Ronak Y Patel18,
- Kevin Riehle18,
- Peter N Robinson19,
- Shawn Rynearson20,
- Helen Schuilenburg12,
- Kirill Tsukanov12,
- Brian Walsh7,
- Melissa Konopko21,
- Heidi Rehm3,22,
- Andrew D Yates12,
- Robert R Freimuth23 and
- Reece K Hart3,24,*
- 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
- 3Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA
- 4Department of Medicine, Brigham and Women’s Hospital, Boston, MA 02115, USA
- 5Harvard Medical School, Boston, MA 02115, USA
- 6University of Zurich and Swiss Institute of Bioinformatics, Zurich, Switzerland
- 7Oregon Health & Science University, Portland, OR 97239, USA
- 8Bioinformatics Division, Walter and Eliza Hall Institute of Medical Research, Melbourne, Australia
- 9Department of Medical Biology, University of Melbourne, Melbourne, Australia
- 10UC Santa Cruz Genomics Institute, Santa Cruz, CA 95060, USA
- 11Washington University School of Medicine, St. Louis, MO 63108, USA
- 12European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SD, UK
- 13Department of Biomedical Informatics, Harvard Medical School, Boston MA 02115, USA
- 14Essex Management LLC and National Cancer Institute, Rockville, MD 20850, USA
- 15Genomics England, London EC1M 6BQ, UK
- 16National Center for Biotechnology Information, National Library of Medicine National Institutes of Health, Bethesda, MD 20894, USA
- 17Gesinger Health, Danville, PA 17822, USA
- 18Baylor College of Medicine, Houston, TX 77030, USA
- 19Jackson Laboratory for Genomic Medicine, Farmington, CT 06032, USA
- 20Utah Center for Genetic Discovery, University of Utah, Salt Lake City, UT 84112, USA
- 21The Global Alliance for Genomics and Health, Torongto, Ontario, Canada
- 22Center for Genomic Medicine, Massachusetts General Hospital, Cambridge, MA 02142, USA
- 23Center for Individualized Medicine, Division of Digital Health Sciences, Mayo Clinic, Rochester, MN 55905, USA
- 24MyOme, Inc., San Carlos, CA 94070, USA
- ↵*To whom correspondence may be addressed: Alex H. Wagner: Alex.Wagner{at}nationwidechildrens.org, Lawrence Babb: lbabb{at}broadinstitute.org, Reece K. Hart: reecehart{at}gmail.com
Posted January 17, 2021.
The GA4GH Variation Representation Specification (VRS): a Computational Framework for the Precise Representation and Federated Identification of Molecular Variation
