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A method and server for predicting damaging missense mutations

Nature Methods volume 7, pages 248–249 (2010)Cite this article

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Applications of rapidly advancing sequencing technology exacerbate the need to interpret individual sequence variants. Sequencing of phenotyped clinical subjects will soon become a method of choice in studies of the genetic causes of Mendelian and complex diseases. New exon-capture techniques will direct sequencing efforts to the most informative and easily interpretable protein-coding fraction of the genome. Thus, the demand for computational predictions of the impact of protein sequence variants will continue to grow.

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Figure 1: PolyPhen-2 pipeline and prediction accuracy.

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Acknowledgements

We thank Y. Bromberg for help with the SNAP analysis. V.E.R. acknowledges support by the Russian Academy of Sciences Program in Molecular and Cellular Biology. This work was supported by the US National Institutes of Health (R01 GM078598 and in part by R01 MH084676).

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Author notes

  1. Ivan A Adzhubei, Steffen Schmidt and Leonid Peshkin: These authors contributed equally to this work.

Authors and Affiliations

  1. Division of Genetics, Brigham & Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA

    Ivan A Adzhubei & Shamil R Sunyaev

  2. Department of Biochemistry, Max Planck Institute for Developmental Biology, Tübingen, Germany

    Steffen Schmidt

  3. Department of Systems Biology, Harvard Medical School, Boston, Massachusetts, USA

    Leonid Peshkin

  4. Engelhardt Institute of Molecular Biology, Russian Academy of Sciences, Moscow, Russia

    Vasily E Ramensky

  5. Life Sciences Institute and Department of Ecology and Evolutionary Biology, University of Michigan, Ann Arbor, USA

    Anna Gerasimova & Alexey S Kondrashov

  6. European Molecular Biology Laboratory, Heidelberg, Germany

    Peer Bork

Authors
  1. Ivan A Adzhubei
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  2. Steffen Schmidt
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  3. Leonid Peshkin
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  4. Vasily E Ramensky
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  5. Anna Gerasimova
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  6. Peer Bork
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  7. Alexey S Kondrashov
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  8. Shamil R Sunyaev
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Corresponding author

Correspondence to Shamil R Sunyaev.

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The authors declare no competing financial interests.

Supplementary information

Supplementary Text and Figures

Supplementary Figures 1–4, Supplementary Tables 1–2, Supplementary Methods (PDF 646 kb)

Supplementary Software

PolyPhen-2 standalone software for Linux/Mac OS X (ZIP 414 kb)

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Adzhubei, I., Schmidt, S., Peshkin, L. et al. A method and server for predicting damaging missense mutations. Nat Methods 7, 248–249 (2010). https://doi.org/10.1038/nmeth0410-248

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