General mutation databases: analysis and review
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  • Published on:
    Response to Stenson et al. on the review of general mutation databases
    • Richard A George, Senior Postdoctoral Researcher
    • Other Contributors:
      • Timothy D. Smith, Steve Callaghan, Lauren Hardman, Chrysoulla Pierides, Ourania Horaitis, Merridee A. Wouters, and Richard G. H. Cotton.

    Dear Editor

    We thank the Human Gene Mutation Database (HGMD) team for critically analysing our results, and highlighting some potential problems with our analysis.

    Many of the criticisms raised by Stenson et al. relate to mutations that were outside the terms of reference of the study. For instance, a major criticism raised by Stenson et al. was that the review was not comprehensive viz we negle...

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    Conflict of Interest:
    None declared.
  • Published on:
    HGMD - Towards A Comprehensive Central Mutation Database.
    • Peter D Stenson, Research Officer
    • Other Contributors:
      • Eddy Ball, Katy Howells, Andrew Phillips, Mathew Mort and David N. Cooper.
    Dear Editor

    We write in response to a number of very specific criticisms of the Human Gene Mutation Database (HGMD) made in the recently published article of George et al. [PMID: 17893115]. All seven claims made were amenable to empirical testing. Having tested these claims, we find all of them to be either false or highly misleading. In the text that follows, we refute or rebut each claim in turn.

    HGMD represents an...

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    Conflict of Interest:
    None declared.