Recommendations for locus-specific databases and their curation.

Details

Ressource 1Download: 18157828_Postprint.pdf (387.16 [Ko])
State: Public
Version: author
Serval ID
serval:BIB_380D9F5704BD
Type
Article: article from journal or magazin.
Publication sub-type
Review (review): journal as complete as possible of one specific subject, written based on exhaustive analyses from published work.
Collection
Publications
Institution
Title
Recommendations for locus-specific databases and their curation.
Journal
Human Mutation
Author(s)
Cotton R.G., Auerbach A.D., Beckmann J.S., Blumenfeld O.O., Brookes A.J., Brown A.F., Carrera P., Cox D.W., Gottlieb B., Greenblatt M.S., Hilbert P., Lehvaslaiho H., Liang P., Marsh S., Nebert D.W., Povey S., Rossetti S., Scriver C.R., Summar M., Tolan D.R., Verma I.C., Vihinen M., den Dunnen J.T.
ISSN
1059-7794
Publication state
Published
Issued date
2008
Peer-reviewed
Oui
Volume
29
Number
1
Pages
2-5
Language
english
Abstract
Expert curation and complete collection of mutations in genes that affect human health is essential for proper genetic healthcare and research. Expert curation is given by the curators of gene-specific mutation databases or locus-specific databases (LSDBs). While there are over 700 such databases, they vary in their content, completeness, time available for curation, and the expertise of the curator. Curation and LSDBs have been discussed, written about, and protocols have been provided for over 10 years, but there have been no formal recommendations for the ideal form of these entities. This work initiates a discussion on this topic to assist future efforts in human genetics. Further discussion is welcome.
Keywords
Computational Biology, Databases, Genetic/standards, Databases, Genetic/statistics & numerical data, Expert Testimony, Genes, Genetic Markers, Genetic Variation, Guidelines as Topic, Humans, Mutation
Pubmed
Web of science
Create date
13/10/2009 10:30
Last modification date
20/08/2019 13:26
Usage data