Wikidata:Property proposal/HGVS nomenclature

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HGVS nomenclature[edit]

Originally proposed at Wikidata:Property proposal/Natural science

DescriptionSequence Variant Nomenclature from the Human Genome Variation Society (HGVS)
Data typeString
Examplers1801133 (Q4048578) → "chr1:g.11856378G>A"
SourceCIViC http://myvariant.info/ Sequence Variant Nomenclature
Planned useRegularly update wikidata with statement on genetic variants from open and authoritative resoruces.
Robot and gadget jobsyes
Motivation

To be able to link genes, drugs, and diseases captured in Wikidata with each other, we need information on variants. We intent to start adding various statements on Cancer variants to Wikidata. Variants have various naming structures. Label alone are not sufficient to distinguish between wikidata items on variants and other wikidata items. To be able to do so, we need a set of variant identifiers. The HGVS nomenclature by the Human Genome Variation Society is a key identifier scheme on variants. . Andrawaag (talk) 12:20, 28 October 2016 (UTC)[reply]

Discussion

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