Terms to describe variation
Karen Eilbeck, Fiona Cunningham, Graham Ritchie, Barry Moore, Shawn Rynearson
Aims of term development
This working group aims to develop SO terms to provide the variant annotation community with the terms needed to annotate the consequences of sequence alterations on the existing genomic feature annotation. For example the consequence of a nucleotide deletion may be a stop_loss variant.
- A paper detailing the progress of this working group was presented at the AIMM workshop (ECCB 12 conference) in Basel, September 2012. http://ceur-ws.org/Vol-916/Paper4.pdf
- An EBI blog detailing the terms and definitions is available here: http://www.ensembl.info/blog/2012/08/06/variation-consequences/
These terms are used by the Ensembl Variation group. A mapping between there old terms and the SO term with definition can be found here http://uswest.ensembl.org/info/docs/variation/predicted_data.html?redirect=mirror;source=www.ensembl.org.