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Clarity and claims in variation/mutation databasing

Nature Biotechnology volume 29, pages 790–792 (2011)Cite this article

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To the Editor:

In response to the paper “MutaDATABASE: a centralized and standardized DNA variation database” by Patrick Willems and colleagues1, we agree that there is a need to collect, analyze and create database resources for DNA variation associated with genetic disease. We are also broadly optimistic that many and various ventures, such as MutaDATABASE, can make a positive contribution if appropriately conducted. However, certain aspects of the MutaDATABASE initiative could give some cause for concern—in as much as they are properly addressed neither in the published correspondence nor on the MutaDATABASE website. In particular, we seek clarification on three key claims presented by the authors: first, “many DNA variation classifications in the current literature are incorrect as a result of the lack of standards and nomenclature for classifying variants...”; second, unpublished variants detected in research and diagnostic laboratories are not being submitted to existing public databases because “data entry is tedious and laborious with the current platforms” and there are associated intellectual property and patient confidentiality issues; and third, the MutaDATABASE system will be open and free, and it will address the shortcomings of existing tools to enable a fully integrated “closed-loop” system, which will include community-group discussions of issues relating to particular genes (through “MutaCIRCLES”).

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Authors and Affiliations

  1. Department of Genetics, University of Leicester, Leicester, UK

    Raymond Dalgleish & Anthony J Brookes

  2. Department of Experimental and Clinical Pharmacology, School of Pharmacy, University of Minnesota, Minneapolis, Minnesota, USA

    William S Oetting

  3. Program in Human Genetics and Hematology, The Rockefeller University, New York, New York, USA

    Arleen D Auerbach

  4. Department of Medical Genetics, University of Lausanne, and Service of Medical Genetics, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland

    Jacques S Beckmann

  5. Inserm, UMR1027, Epidemiology and Analyses in Public Health, Toulouse, France

    Anne Cambon-Thomsen

  6. University of Toulouse, Paul Sabatier, UMR1027, Faculty of Medicine, Toulouse, France

    Anne Cambon-Thomsen

  7. NGRL Manchester, Genetic Medicine, St. Mary's Hospital, Manchester, UK

    Andrew Devereau

  8. Department of Medicine, University of Vermont College of Medicine, Burlington, Vermont, USA

    Marc S Greenblatt

  9. Department of Pharmacy, School of Health Sciences, University of Patras, Patras, Greece

    George P Patrinos

  10. University of Leeds Institute of Molecular Medicine, Leeds, UK

    Graham R Taylor

  11. Institute of Biomedical Technology, University of Tampere, Tampere, Finland

    Mauno Vihinen

Authors
  1. Raymond Dalgleish
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Correspondence to Raymond Dalgleish.

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A.D. manages DmuDB, which will soon become a noncommerical subscription service.

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Dalgleish, R., Oetting, W., Auerbach, A. et al. Clarity and claims in variation/mutation databasing. Nat Biotechnol 29, 790–792 (2011). https://doi.org/10.1038/nbt.1961

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