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Article

A formalized description of the standard human variant nomenclature in Extended Backus-Naur Form.

BMC bioinformatics - 1 Jan 2011

Laros Jeroen F J, Blavier André, den Dunnen Johan T, Taschner Peter E M

Abstract excerpt

BACKGROUND: The use of a standard human sequence variant nomenclature is advocated by the Human Genome Variation Society in order to unambiguously describe genetic variants in databases and literature. There is a clear need for tools that allow the mining of data about human sequence variants and their functional consequences from databases and literature. Existing text mining focuses on the recognition of...

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Identifiers

PMID: 21992071
DOI: 10.1186/1471-2105-12-S4-S5
PMCID: PMC3194197

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