GA4GH::GKS Variant Annotation

The Variant Annotation group aims to develop a common data model to represent annotations made on genomic variants, and the evidence and provenance that underlie these annotations. The model will support a wide variety of variant annotations, including causal association to disease/phenotype and interpretations of clinical relevance and actionability, and will support existing clinical lab standards such as the ACMG/AMP variant interpretation guidelines.

Leads

Meetings

Generally every Wednesday at 8am PST, 11am EST, 4pm 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 annotation group using our Google Group.

Documents

Document Name Purpose
Informal models Shared spreadsheet defines core model attributes
Modeling Requirements Sinthesises requirements collected in the examples catalog
Examples catalog A collection of variant annotation examples which implicitly define DPs requirements
Roadmap Details our future goals and timelines
Landscape Analysis Known resources, data models, curation frameworks, applications and enums pertaining to variation annotation
Variant Annotation Definition and Categories Defining what is variant annotation with respect to this workstream
Driver Project Data Overview Summary data to model as defined by our engaged driver projects
Driver Project Data Evaluation Evalutation of examples of driver project variant annotation
Concept Glossary Defining a set of concepts or terms clearly and to use them consistently

2018

GA4GH::GKS Variant Annotation Minutes Archive

2018-04-20: more ...