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MutationTaster

MutationTaster

A web tool for predicting a disease causing potential of single nucleotide polymorphism (SNP) and single amino acid substitutions.

Topic

Biology, Genetics, DNA polymorphism

Details

  • Operation: Prediction and recognition
  • Software interface: Web user interface
  • Language: Perl
  • Operating system: Linux, Mac OS X, Microsoft Windows
  • License: Not stated
  • Cost: Free
  • Version name: -
  • Credit: Deutsche Forschungsgemeinschaft via the NeuroCure Cluster of Excellence, Exc 257, and the Collaborative Research Center 665 TP C4, the German
  • Contact: Jana Marie Schwarz jana-marie.schwarz at charite.de, Dominik Seelow dominik.seelow at charite.de
  • Collection: -

Publications

Schwarz JM, Rödelsperger C, Schuelke M, Seelow D "MutationTaster evaluates disease-causing potential of sequence alterations." Nat. Methods 2010; 7(8):575-6 https://doi.org/10.1038/nmeth0810-575
PMID: 20676075


Wheeler DA, Srinivasan M, Egholm M, Shen Y, Chen L, McGuire A, He W, Chen YJ, Makhijani V, Roth GT, Gomes X, Tartaro K, Niazi F, Turcotte CL, Irzyk GP, Lupski JR, Chinault C, Song XZ, Liu Y, Yuan Y, Nazareth L, Qin X, Muzny DM, Margulies M, Weinstock GM, Gibbs RA, Rothberg JM "The complete genome of an individual by massively parallel DNA sequencing." Nature 2008; 452(7189):872-6 https://doi.org/10.1038/nature06884
PMID: 18421352


Schwarz JM, Cooper DN, Schuelke M, Seelow D "MutationTaster2: mutation prediction for the deep-sequencing age." Nat. Methods 2014; 11(4):361-2 https://doi.org/10.1038/nmeth.2890
PMID: 24681721


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