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 the Precise Representation and Federated Identification of Molecular Variation. Wagner AH, Babb L, Alterovitz G, Baudis M, Brush M, Cameron DL, …, Hart RK. bioRxiv. 2021. doi:10.1101/2021.01.15.426843

• Introduction
• Terminology & Information Model
  • Information Model Principles
  • Variation
  • Locations and Intervals
  • Sequence Expression
  • Feature
  • Quantity
  • Primitive Concepts
  • Deprecated and Obsolete Classes
• Schema
  • Overview
  • Machine Readable Specifications
• Implementation Guide
  • Required External Data
  • Normalization
  • Computed Identifiers
  • Example
• Releases
  • 1.2
  • 1.1
  • 1.0
• Appendices
  • Relationship of VRS to existing standards
  • Associating Annotations with VRS Objects
  • Design Decisions
  • Equivalence Between Concepts
  • Development Process
  • Future Plans
  • Proposal for GA4GH-wide Computed Identifier Standard
  • Implementations
  • Truncated Digest Timing and Collision Analysis
  • Glossary