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Curating gene variant databases (LSDBs): toward a universal standard.

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Author

  • Jacopo Celli
  • Raymond Dalgleish
  • Mauno Vihinen
  • Peter E M Taschner
  • Johan T den Dunnen

Summary, in English

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.

Publishing year

2012

Language

English

Pages

291-297

Publication/Series

Human Mutation

Volume

33

Issue

2

Document type

Journal article

Publisher

John Wiley & Sons Inc.

Topic

  • Medical Genetics

Keywords

  • Databases
  • Computational Biology: methods
  • Computational Biology: standards
  • Genetic: standards

Status

Published

ISBN/ISSN/Other

  • ISSN: 1059-7794