Skip to main content
SpringerLink
Log in

MutationTaster evaluates disease-causing potential of sequence alterations

  • Correspondence
  • Published:

From Nature Methods

View current issue Submit your manuscript

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

References

  1. Wheeler, D.A. et al. Nature 452, 872–876 (2008).

    Article  CAS  Google Scholar 

  2. Hand, D.J. & Yu, K.M. Int. Stat. Rev. 69, 385–398 (2001).

    Google Scholar 

  3. Mi, H. et al. Nucleic Acids Res. 33, D284–D288 (2005).

    Article  CAS  Google Scholar 

  4. Ferrer-Costa, C. et al. Bioinformatics. 21, 3176–3178 (2005).

    Article  CAS  Google Scholar 

  5. Adzhubei, I.A. et al. Nat. Methods 7, 248–249 (2010).

    Article  CAS  Google Scholar 

  6. Bromberg, Y. & Rost, B. Nucleic Acids Res. 35, 3823–3835 (2007).

    Article  CAS  Google Scholar 

Download references

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.

Author information

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
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Christian Rödelsperger
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Markus Schuelke
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Dominik Seelow
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Dominik Seelow.

Ethics declarations

Competing interests

The authors declare no competing financial interests.

Supplementary information

Supplementary Text and Figures

Supplementary Methods (PDF 399 kb)

Rights and permissions

Reprints and permissions

About this article

Cite this article

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

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1038/nmeth0810-575

  • Springer Nature America, Inc.

This article is cited by

Search

Navigation