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Curating gene variant databases (LSDBs): Toward a universal standard
Author(s) -
Celli Jacopo,
Dalgleish Raymond,
Vihinen Mauno,
Taschner Peter E.M.,
den Dunnen Johan T.
Publication year - 2012
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.21626
Subject(s) - database , gene nomenclature , biology , data curation , hum , gene , locus (genetics) , biological database , genetics , computational biology , computer science , data science , nomenclature , taxonomy (biology) , art history , art , botany , performance art
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. Hum Mutat 33:291–297, 2012. © 2011 Wiley Periodicals, Inc.