Fig. 1

Hierarchical view of new and modified Sequence Ontology terms used by Ensembl to annotate the effects od sequence alteration. A portion of the SO sequence variant subsumption hierarchy is shown, with terms used by Ensembl in dark grey. Feature variant terms define cases where the sequence alteration occurs within or overlaps an annotated reference feature such as a transcript or exon, whereas the kinds of feature ablation, feature amplification, define cases where an entire feature is altered. Definitions for these terms are available from the miSO browser: http://sequenceontology.org/browser/obob.cgi and http://ensembl.org/info/genome/variation/predicted_data.html