Article
Curating gene variant databases (LSDBs): toward a universal standard.
Human mutation - 1 Feb 2012
Celli Jacopo, Dalgleish Raymond, Vihinen Mauno, Taschner Peter E M, den Dunnen Johan T
Abstract excerpt
Gene variant databases or Locus-Specific DataBases (LSDBs) are used to collect and display information on sequence variants on a gene-by-gene basis. Their most frequent use is in relation to DNA-based diagnostics, giving clinicians and scientists easy access to an up-to-date overview of all gene variants identified worldwide and whether they influence the function of the gene ("pathogenic or not"). While...
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