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

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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

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Databases
Genetic Research
Mutation
Health Services Research
Medical Genetics
Genes
Health

Keywords

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

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Cotton, R. G. H., Auerbach, A. D., Beckmann, J. S., Blumenfeld, O. O., Brookes, A. J., Brown, A. F., ... 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

Recommendations for locus-specific databases and their curation. / 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.

In: Human Mutation, Vol. 29, No. 1, 01.2008, p. 2-5.

Research output: Contribution to journalArticle

Cotton, RGH, Auerbach, AD, Beckmann, JS, Blumenfeld, OO, Brookes, AJ, Brown, AF, Carrera, P, Cox, DW, Gottlieb, B, Greenblatt, MS, Hilbert, P, Lehvaslaiho, H, Liang, P, Marsh, S, Nebert, DW, Povey, S, Rossetti, S, Scriver, CR, Summar, M, Tolan, DR, Verma, IC, Vihinen, M & Den Dunnen, JT 2008, 'Recommendations for locus-specific databases and their curation', Human Mutation, vol. 29, no. 1, pp. 2-5. https://doi.org/10.1002/humu.20650
Cotton RGH, Auerbach AD, Beckmann JS, Blumenfeld OO, Brookes AJ, Brown AF et al. Recommendations for locus-specific databases and their curation. Human Mutation. 2008 Jan;29(1):2-5. https://doi.org/10.1002/humu.20650
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. / Recommendations for locus-specific databases and their curation. In: Human Mutation. 2008 ; Vol. 29, No. 1. pp. 2-5.
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