Develop CNV Ontology

[mbaudis]

Members of the h-CNV community have voiced the need for the creation of a CNV ontology, which specifically addresses ambiguities from existing representations (e.g. Sequence Ontology or absolute count based concepts). This topic has also come up in the CNV related work of the GA4GH Variant Representation Standard work group, and in the work of the Beacon v2 structural variation scout team.

We've recently started to draft an ontology for the representation of relative copy number changes, from a discussion in VRS to an issue in SO.

The proposal here is for the h-CNV community to contribte to and support such a draft ontology sub-tree. The target would be the inclusion in SO and/or alternative ontologies (e.g. EFO), as well as the adoption of the terms into the VRS specification.

Please contribute to the working document.

• VRS RelativeCopyNumber issue
• Gene Ontology copy number assessment subtree proposal