Open for public comment: Categorical Variation Representation Specification (Cat-VRS)

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.