Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2008 Jan;29(1):2-5.
doi: 10.1002/humu.20650.

Recommendations for locus-specific databases and their curation

R G H Cotton  1 , 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
Affiliations

Recommendations for locus-specific databases and their curation

R G H Cotton et al. Hum Mutat. 2008 Jan.

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.

PubMed Disclaimer

References

    1. . What is the Human Variome Project? Nat Genet. 2007;39:423. - PubMed
    1. Beroud C, Collod-Beroud G, Boileau C, Soussi T, Junien C. UMD (Universal Mutation Database): a generic software to build and analyze locus-specific databases. Hum Mutat. 2000;15:86–94. - PubMed
    1. Blumenfeld OO, Patnaik SK. Allelic genes of blood group antigens: a source of human mutations and cSNPs documented in the Blood Group Antigen Gene Mutation Database. Hum Mutat. 2004;23:8–16. - PubMed
    1. Claustres M, Horaitis O, Vanevski M, Cotton RG. Time for a unified system of mutation description and reporting: a review of locus-specific mutation databases. Genome Res. 2002;12:680–688. - PubMed
    1. Cotton RG. Progress of the HUGO mutation database initiative: a brief introduction to the human mutation MDI special issue. Hum Mutat. 2000;15:4–6. - PubMed

Substances