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Recommendations for locus-specific databases and their curation†

  1. R.G.H. Cotton1,*,
  2. A.D. Auerbach2,
  3. J.S. Beckmann3,
  4. O.O. Blumenfeld4,
  5. A.J. Brookes5,
  6. A.F. Brown6,
  7. P. Carrera7,
  8. D.W. Cox8,
  9. B. Gottlieb9,
  10. M.S. Greenblatt10,
  11. P. Hilbert11,
  12. H. Lehvaslaiho12,
  13. P. Liang13,
  14. S. Marsh14,
  15. D.W. Nebert15,
  16. S. Povey16,
  17. S. Rossetti17,
  18. C.R. Scriver18,
  19. M. Summar19,
  20. D.R. Tolan20,
  21. I.C. Verma21,
  22. M. Vihinen22,23,
  23. J.T. den Dunnen24

Article first published online: 21 DEC 2007

DOI: 10.1002/humu.20650

Issue

Human Mutation

Human Mutation

Volume 29, Issue 1, pages 2–5, January 2008

Additional Information

How to Cite

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. and den Dunnen, J.T. (2008), Recommendations for locus-specific databases and their curation. Hum. Mutat., 29: 2–5. doi: 10.1002/humu.20650

Author Information

  1. 1

    Genomic Disorders Research Centre, St. Vincent's Hospital Melbourne, Australia

  2. 2

    Laboratory of Human Genetics and Hematology, Rockefeller University, New York, New York

  3. 3

    Service and Department of Medical Genetics, Centre Hospitalier Universitaire Vaudois and Faculty of Medicine, University of Lausanne, Lausanne, Switzerland

  4. 4

    Department of Biochemistry, Albert Einstein College of Medicine, New York, New York

  5. 5

    Department of Genetics, University of Leicester, Leicester, United Kingdom

  6. 6

    MRC Human Genetics Unit, Edinburgh, United Kingdom

  7. 7

    San Raffaele Scientific Institute and Laboraf, Laboratory of Molecular Biology, Milano, Italy

  8. 8

    Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada

  9. 9

    Lady Davis Institute for Medical Research, Montreal, Quebec, Canada

  10. 10

    University of Vermont College of Medicine, Burlington, Vermont

  11. 11

    Institut de Pathologie et de Génétique (IPG)-Molecular Biology, Gosselies, Belgium

  12. 12

    South African National Bioinformatics Institute (SANBI), University of the Western Cape, Cape Town, South Africa

  13. 13

    Department of Cancer Genetics, Roswell Park Cancer Institute, Buffalo, New York

  14. 14

    Division of Oncology, Washington University, St. Louis, Missouri

  15. 15

    Department of Environmental Health, University of Cincinnati Medical Center, Cincinnati, Ohio

  16. 16

    Galton Laboratory, University College London, London, United Kingdom

  17. 17

    Mayo Clinic College of Medicine, Rochester, Minnesota

  18. 18

    Montreal Children's Hospital Research Institute, McGill University, Montreal, Quebec, Canada

  19. 19

    Center for Human Genetics Research, Vanderbilt University, Nashville, Tennessee

  20. 20

    Biology Department, Boston University, Boston, Massachusetts

  21. 21

    Department of Genetic Medicine, Sir Ganga Ram Hospital, New Delhi, India

  22. 22

    Institute of Medical Technology, University of Tampere, Tampere, Finland

  23. 23

    Research Unit, Tampere University Hospital, Tampere, Finland

  24. 24

    Leiden University Medical Center, Leiden, The Netherlands

*Genomic Disorders Research Centre, 7th Floor Daly Wing, St. Vincent's Hospital Melbourne, 35 Victoria Parade, Fitzroy VIC 3065, Australia

  1. †

    Communicated by Mark H. Paalman

Publication History

  1. Issue published online: 21 DEC 2007
  2. Article first published online: 21 DEC 2007
  3. Manuscript Accepted: 20 AUG 2007
  4. Manuscript Received: 27 JUN 2007

Funded by

  • National Health and Medical Research Council (NHMRC)

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Keywords:

  • mutation;
  • variome;
  • database;
  • curation;
  • LSDB;
  • bioinformatics

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. Hum Mutat 29(1), 2–5, 2008. © 2007 Wiley-Liss, Inc.

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