MutationTaster evaluates disease-causing potential of sequence alterations (original) (raw)

Nature Methods volume 7, pages 575–576 (2010)Cite this article

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To the Editor:

Identification of pathogenic DNA sequence alterations in patients with inherited diseases is one of the main tasks of human genetics. Next-generation sequencing (NGS) techniques enable sequencing of hundreds of candidate genes, whole linkage intervals or the entire exome. This inevitably leads to the detection of vast numbers of alterations, all of which have to be tested for their disease-causing potential. A recent study revealed more than 3.5 million alterations in the whole genome of a single individual, roughly corresponding to 1,000 alterations per mega–base pair1.

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Acknowledgements

This project was supported by the Deutsche Forschungsgemeinschaft via the NeuroCure Cluster of Excellence, Exc 257, and the Collaborative Research Center 665 TP C4. M.S. and D.S. are members of the German network for mitochondrial disorders (mitoNET, 01GM0862), funded by the German ministry of education and research (BMBF). We thank H. Peters for providing mutation data, M. Zhang and M. Reese for allowing us to integrate polyadq and NNSplice, E. Lüdeking for proofreading the manuscript, and all beta users whose valuable recommendations guided the development of MutationTaster.

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Authors and Affiliations

  1. Department of Neuropediatrics, “Charité–Universitätsmedizin Berlin”, Berlin, Germany
    Jana Marie Schwarz, Markus Schuelke & Dominik Seelow
  2. NeuroCure Clinical Research Center, “Charité–Universitätsmedizin Berlin”, Berlin, Germany
    Jana Marie Schwarz, Markus Schuelke & Dominik Seelow
  3. Institute of Medical Genetics, “Charité–Universitätsmedizin Berlin”, Berlin, Germany
    Christian Rödelsperger

Authors

  1. Jana Marie Schwarz
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  2. Christian Rödelsperger
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  3. Markus Schuelke
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  4. Dominik Seelow
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Correspondence toDominik Seelow.

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Schwarz, J., Rödelsperger, C., Schuelke, M. et al. MutationTaster evaluates disease-causing potential of sequence alterations.Nat Methods 7, 575–576 (2010). https://doi.org/10.1038/nmeth0810-575

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