| Literature DB >> 18157828 |
R G H Cotton1, A D Auerbach, J S Beckmann, O O Blumenfeld, A J Brookes, A F Brown, P Carrera, D W Cox, B Gottlieb, M S Greenblatt, P Hilbert, H Lehvaslaiho, P Liang, S Marsh, D W Nebert, S Povey, S Rossetti, C R Scriver, M Summar, D R Tolan, I C Verma, M Vihinen, J T den Dunnen.
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. (c) 2007 Wiley-Liss, Inc.Entities:
Mesh：
Substances：
Year: 2008 PMID： 18157828 PMCID： PMC2752432 DOI： 10.1002/humu.20650
Source DB: PubMed Journal: Hum Mutat ISSN： 1059-7794 Impact factor: 4.878