GA4GH Variation Representation Specification¶
The Variation Representation Specification (VRS, pronounced “verse”) is a standard developed by the Global Alliance for Genomic Health to facilitate and improve sharing of genetic information. The Specification consists of a JSON Schema for representing many classes of genetic variation, conventions to maximize the utility of the schema, and a Python implementation that promotes adoption of the standard.
Citation
The GA4GH Variation Representation Specification (VRS): a computational framework for variation representation and federated identification. Wagner AH, Babb L, Alterovitz G, Baudis M, Brush M, Cameron DL, …, Hart RK. Cell Genomics. Volume 1 (2021). doi:10.1016/j.xgen.2021.100027
- Introduction
- Terminology & Information Model
- Schema
- Implementation Guide
- Releases
- Appendices
- Getting Involved
- Design Decisions
- Development Process
- Future Plans
- Implementations
- Relationship of VRS to existing standards
- Associating Annotations with VRS Objects
- Equivalence Between Concepts
- Proposal for GA4GH-wide Computed Identifier Standard
- Truncated Digest Timing and Collision Analysis
- Frequently (Asked and) Answered Questions
- Glossary