The Categorical Variation Representation Specification (Cat-VRS) provides a standard for the categorical representation of variant concepts commonly observed in genomics knowledgebases. This specification provides a formal syntax to improve genomic knowledge search, curation, and harmonisation. The specification consists of a JSON Schema for representing classes of categorical variation, conventions to maximise the utility of the schema, and a python implementation that promotes adoption of the standard. Read more and provide feedback here or email Beatrice Amos 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 and 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.