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.
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