CNV Ontology Proposal - Now Live at EFO

EFO Ontology contains now terms for (relative) CNV levels

EFO copy number assessment treeAs part of the hCNV-X work - related to "Workflows and Tools for hCNV Data Exchange Procedures" and to the intersection with Beacon and GA4GH VRS - we have now a new proposal for the creation of an ontology for the annotation of (relative) CNV events. The CNV representation ontology is targeted for adoption by Sequence Ontology (SO) and then to be used by an updated version of the VRS standard. Please see the discussions linked from the proposal page. However, we have also contributed the CNV proposal to EFO where it has gotten live on January 21.

Everybody is welcome to contribute to the editing of the proposal at the SO & VRS Github repositories!

2021-01-21: copy number assessment term tree now live on EFO

The copy number assessment term tree has been accepted into the Experimental Factor Ontology and can be used for referencing CNV types.

More ontologies...

... with h-CNV contributions can be found under the ontologies tag.