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Systematics for types and effects of RNA variations

Vihinen, Mauno LU (2021) In RNA Biology 18(4). p.481-498
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... (More)

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 structural description for affected RNA type, post-transcriptional RNA modifications, secondary and tertiary structure effects and RNA sugar variations. Together with the DNA and protein concepts and annotations, RNA terms allow comprehensive description of variations of genetic and non-genetic origin at all possible levels. The VariO annotations are readable both for humans and computer programs for advanced data integration and mining.

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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
RNA, RNA variation classification, systematics, variation ontology, VariO
in
RNA Biology
volume
18
issue
4
pages
481 - 498
publisher
Taylor & Francis
external identifiers
  • pmid:32951567
  • scopus:85091152054
ISSN
1547-6286
DOI
10.1080/15476286.2020.1817266
language
English
LU publication?
yes
id
db8037a6-ff75-47ed-b92e-6cf721eac864
date added to LUP
2020-10-28 09:18:44
date last changed
2021-06-16 03:45:56
@article{db8037a6-ff75-47ed-b92e-6cf721eac864,
  abstract     = {<p>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 structural description for affected RNA type, post-transcriptional RNA modifications, secondary and tertiary structure effects and RNA sugar variations. Together with the DNA and protein concepts and annotations, RNA terms allow comprehensive description of variations of genetic and non-genetic origin at all possible levels. The VariO annotations are readable both for humans and computer programs for advanced data integration and mining.</p>},
  author       = {Vihinen, Mauno},
  issn         = {1547-6286},
  language     = {eng},
  number       = {4},
  pages        = {481--498},
  publisher    = {Taylor & Francis},
  series       = {RNA Biology},
  title        = {Systematics for types and effects of RNA variations},
  url          = {http://dx.doi.org/10.1080/15476286.2020.1817266},
  doi          = {10.1080/15476286.2020.1817266},
  volume       = {18},
  year         = {2021},
}