Recommendations for locus-specific databases and their curation

Hum Mutat. 2008 Jan;29(1):2-5. doi: 10.1002/humu.20650.


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.

MeSH terms

  • Computational Biology
  • Databases, Genetic / standards*
  • Databases, Genetic / statistics & numerical data
  • Databases, Genetic / trends
  • Expert Testimony
  • Genes
  • Genetic Markers
  • Genetic Variation
  • Guidelines as Topic
  • Humans
  • Mutation


  • Genetic Markers