The GA4GH Variation Representation Specification: A computational framework for variation representation and federated identification

Summary: 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 o...

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Bibliographic Details

Published in:	Cell Genomics
Main 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
Format:	Article
Language:	English
Published:	Elsevier 2021-11-01
Subjects:	variation genomics GA4GH standard VOCA computed identifiers
Online Access:	http://www.sciencedirect.com/science/article/pii/S2666979X21000343