Back to Search Start Over

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

Authors :
Celli J
Dalgleish R
Vihinen M
Taschner PE
den Dunnen JT
Source :
Human mutation [Hum Mutat] 2012 Feb; Vol. 33 (2), pp. 291-7. Date of Electronic Publication: 2011 Nov 03.
Publication Year :
2012

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.<br /> (© 2011 Wiley Periodicals, Inc.)

Details

Language :
English
ISSN :
1098-1004
Volume :
33
Issue :
2
Database :
MEDLINE
Journal :
Human mutation
Publication Type :
Academic Journal
Accession number :
21990126
Full Text :
https://doi.org/10.1002/humu.21626