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