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Title: Curating gene variant databases (LSDBs): toward a universal standard.
Authors: Celli, J
Dalgleish, R
Vihinen, M
Taschner, PE
den Dunnen JT
First Published: Feb-2012
Citation: HUM MUTAT, 2012, 33 (2), pp. 291-297
Abstract: 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 literature on gene variant databases is extensive, little has been published on the process of database curation itself. Based on our extensive experience as LSDB curators and our contributions to database curation courses, we discuss the subject of database curation. We describe the tasks involved, the steps to take, and the issues that might occur. Our overview is a first step toward establishing overall guidelines for database curation and ultimately covers one aspect of establishing quality-assured gene variant databases.
DOI Link: 10.1002/humu.21626
eISSN: 1098-1004
Type: Journal Article
Appears in Collections:Published Articles, Dept. of Genetics

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