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

ABSTRACT:

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 protein variants and their effects. The recognition of variants at the DNA and RNA levels is essential for dissemination of variant data for diagnostic purposes. Development of new tools is hampered by the complexity of the current nomenclature, which requires processing at the character level to recognize the specific syntactic constructs used in variant descriptions.

Results<

SUBMITTER: Laros JF 

PROVIDER: S-EPMC3194197 | biostudies-literature | 2011

REPOSITORIES: biostudies-literature