Systematics for types and effects of RNA variations.

ABSTRACT: Systematics is described for annotation of variations in RNA molecules. The conceptual framework is part of Variation Ontology (VariO) and facilitates depiction of types of variations, their functional and structural effects and other consequences in any RNA molecule in any organism. There are more than 150 RNA related VariO terms in seven levels, which can be further combined to generate even more complicated and detailed annotations. The terms are described together with examples, usually for variations and effects in human and in diseases. RNA variation type has two subcategories: variation classification and origin with subterms. Altogether six terms are available for function description. Several terms are available for affected RNA properties. The ontology contains also terms for str

SUBMITTER: Vihinen M 

PROVIDER: S-EPMC8096339 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature