VariO

Variation Ontology, VariO, is an ontology for standardized, systematic description of effects, consequences and mechanisms of variations. VariO allows unambiguous description of variation effects as well as computerized analyses over databases utilizing the ontology for annotation. VariO is a position specific ontology that can be used to describe effects of variations on DNA, RNA and/or protein level, whatever is appropriate.

VariO allows

consistent naming
annotation of variation effects
data integration
comparison of variations and datasets
statistical studies
development of software tools

VariO is available in OBO, OWL and OWX formats here.

References:

Vihinen, M., 2014. Variation Ontology for annotation of variation effects and mechanisms. Genome Res. 24:356-364 PUBMED
Vihinen, M., 2014. Variation ontology: annotator guide. J Biomed Semantics 5:9 PUBMED
Vihinen, M., 2015. Types and effects of protein variations. Hum Genet. 134:405-421 PUBMED

Examples

Services and portals

VariO is available and linked via several services including: