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MutaDATABASE: a centralized and standardized DNA variation database

Nature Biotechnology volume 29, pages 117–118 (2011)Cite this article

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There are several reasons why the finding of a pathogenic DNA variation is important for an individual affected with a genetic disease and for his or her family. A molecular diagnosis may offer confirmation of a clinically or biochemically suspected disease, carrier detection, disease risk assessment, prenatal diagnosis, management guidance and/or long-term prognosis and may also facilitate genetic counseling of family members.

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Figure 1: Organization and structure of MutaDATABASE.

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Authors and Affiliations

  1. GeneDx, Gaithersburg, Maryland, USA

    Sherri Bale

  2. GENOHM, Ghent, Belgium

    Martijn Devisscher & Frederik Decouttere

  3. BIOBIX, University of Ghent, Ghent, Belgium

    Wim Van Criekinge

  4. Harvard Medical School, Cambridge, Massachusetts, USA

    Heidi L Rehm

  5. Institute of Human Genetics, University of California, San Francisco, San Francisco, California, USA

    Robert Nussbaum

  6. Leiden University Medical Center, Leiden, The Netherlands

    Johan T Den Dunnen

  7. GENDIA, Antwerp, Belgium

    Patrick Willems

Authors
  1. Sherri Bale
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  2. Martijn Devisscher
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  3. Wim Van Criekinge
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  4. Heidi L Rehm
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  5. Frederik Decouttere
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  6. Robert Nussbaum
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  7. Johan T Den Dunnen
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  8. Patrick Willems
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Corresponding author

Correspondence to Patrick Willems.

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The authors declare no competing financial interests.

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Bale, S., Devisscher, M., Criekinge, W. et al. MutaDATABASE: a centralized and standardized DNA variation database. Nat Biotechnol 29, 117–118 (2011). https://doi.org/10.1038/nbt.1772

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