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, …, Hart RK.

Submitted (2021) doi:10.1101/2021.01.15.426843 (preprint)

• Introduction
• Terminology & Information Model
  • Information Model Principles
  • Optional Attributes
  • Parking Lot
  • Primitive Concepts
  • Non-variation classes
  • Variation
• Schema
  • Overview
  • Machine Readable Specifications
• Implementation Guide
  • Required External Data
  • Normalization
  • Computed Identifiers
  • Example
• Releases
  • 1.1
  • 1.0
• Appendices
  • Relationship of VRS to existing standards
  • Associating Annotations with VRS Objects
  • Design Decisions
  • Development Process
  • Future Plans
  • Proposal for GA4GH-wide Computed Identifier Standard
  • Implementations
  • Truncated Digest Timing and Collision Analysis
  • Glossary