Open for public comment: GA4GH Variant Annotation Specification (VA-Spec)

The GA4GH Variant Annotation Specification (VA-Spec) is now open for public comment. Please review and provide feedback by 3 April.

The GA4GH Variant Annotation Specification (VA-Spec) defines a set of schema to represent different types of knowledge about genetic variants. Each schema is built as a “profile” that extends a foundational, domain-agnostic core model. The initial release of the VA-Spec is focused on supporting specific types of variant knowledge provided by implementing Driver Projects, organisational members, including ClinGen, VICC, and the Atlas for Variant Effects Alliance. It includes machine-readable JSON Schema specifications that support sharing and validation between these projects, along with a python reference implementation. Read more and provide feedback here or email Beatrice Amos by 3 April.