VariO annotation

VariO annotations are made on as many levels as possible. The major levels are for DNA, RNA and protein.

Each of these is divided further to four sublevels

variation type
structure
function
property

Variation type provides brief description of the variation in DNA, RNA or protein level. This description does not contain the actual nucleotide/amino acid change, instead the type of the change.

Structure level terms describe how and on which level the structure is changed because of the variation.

Function ontology terms depict the alterations to the function on DNA, RNA or protein.

Property terms are for characterizing changes in other features and properties such as interaction, disease association etc.

The properties are different on each level.

Related to these levels and sublevels there are Variation attributes which can be shared by the main level terms.

Examples of use of VariO terms for annotation of variations and their effects
Missense variation
Splice site variation

Examples of output using VariOtator, the VariO annotation tool