Variation ontology: annotator guide.

ABSTRACT:

Background

Systematic representation of information related to genetic and non-genetic variations is required to allow large scale studies, data mining and data integration, and to make it possible to reveal novel relationships between genotype and phenotype. Although lots of variation data is available it is often difficult to use due to lack of systematics.

Results

A novel ontology, Variation Ontology (VariO http://variationontology.org), was developed for annotation of effects, consequences and mechanisms of variations. In this article instructions are provided on how VariO annotations are made. The major levels for description are the three molecules, namely DNA, RNA and protein. They are further divided to four major sublevels: variation type, function, structure, and p

SUBMITTER: Vihinen M 

PROVIDER: S-EPMC3931275 | biostudies-literature | 2014 Feb

REPOSITORIES: biostudies-literature