Article
VariOtator, a Software Tool for Variation Annotation with the Variation Ontology.
Human mutation - 1 Apr 2016
Schaafsma Gerard C P, Vihinen Mauno
Abstract excerpt
The Variation Ontology (VariO) is used for describing and annotating types, effects, consequences, and mechanisms of variations. To facilitate easy and consistent annotations, the online application VariOtator was developed. For variation type annotations, VariOtator is fully automated, accepting variant descriptions in Human Genome Variation Society (HGVS) format, and generating VariO terms, either with or...
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