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.
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:
You can contact the variant annotation group using our Google Group.
|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|
2018-04-20: more ...