GA4GH::GKS Variant Representation

The Variant Representation group aims to develop a computational data model and message schema specification for the representation of variants, in data resources and for API generation. The initial implementation will build on the work of the VMC, and will gradually expand that schema to include support for structural and complex variants, as well as variation/allele equivalence.

Leads

Meetings

Generally every Monday at 9am PST, 12pm EST, 5pm GMT. Check the calendar for updates.

Current meeting minutes are published accessible through here for review and comments.

Conference calls are held remotely via Zoom Teleconferencing and can be joined using the following methods:

Email Lists

You can contact the variant representation group using our Google Group.

Documents

Document Name Purpose
Roadmap Details our future goals and timelines
VMC Specification The VMC specification master document
Equivalence Use Cases Set of worked use-cases describing variation equivalence
Structural Variants Concepts Document defining the structure and format of strutural variants
Structural Variants Types Spreadsheet Existing models of structural variants

2018

VR - Legacy Schemas

We have now a variant-representation-model__repository, as a place to collect legacy, alternative and proposed models for the representation of genomic (+ ?) variants.

2018-05-17: more ...

GA4GH::GKS Variant Representation Minutes Archive

2018-04-20: more ...