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Recommendations for locus‐specific databases and their curation
Author(s) -
Cotton R.G.H.,
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.
Publication year - 2008
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.20650
Subject(s) - data curation , biology , locus (genetics) , hum , database , genetics , gene nomenclature , gene , computational biology , data science , computer science , art , performance art , art history , taxonomy (biology) , botany , nomenclature
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. Hum Mutat 29(1), 2–5, 2008. © 2007 Wiley‐Liss, Inc.