Terms to describe variation

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Contents

Working group

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.

Documentation/Publications

Notes

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.

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