Recommendations for locus-specific databases and their curation

R. G H Cotton, 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. TolanI. C. Verma, M. Vihinen, J. T. Den Dunnen

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)2-5
Number of pages4
JournalHuman Mutation
Volume29
Issue number1
DOIs
Publication statusPublished - Jan 2008

Keywords

  • Bioinformatics
  • Curation
  • Database
  • LSDB
  • Mutation
  • Variome

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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  • Cite this

    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., ... Den Dunnen, J. T. (2008). Recommendations for locus-specific databases and their curation. Human Mutation, 29(1), 2-5. https://doi.org/10.1002/humu.20650