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

• Main Authors: Alex H. Wagner (Author), Lawrence Babb (Author), Gil Alterovitz (Author), Michael Baudis (Author), Matthew Brush (Author), Daniel L. Cameron (Author), Melissa Cline (Author), Malachi Griffith (Author), Obi L. Griffith (Author), Sarah E. Hunt (Author), David Kreda (Author), Jennifer M. Lee (Author), Stephanie Li (Author), Javier Lopez (Author), Eric Moyer (Author), Tristan Nelson (Author), Ronak Y. Patel (Author), Kevin Riehle (Author), Peter N. Robinson (Author), Shawn Rynearson (Author), Helen Schuilenburg (Author), Kirill Tsukanov (Author), Brian Walsh (Author), Melissa Konopko (Author), Heidi L. Rehm (Author), Andrew D. Yates (Author), Robert R. Freimuth (Author), Reece K. Hart (Author)
• Format: Book
• Published: Elsevier, 2021-11-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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 repres...