Detail výsledku
PredictSNP: Robust and Accurate Consensus Classifier for Prediction of Disease-Related Mutations
Štourač Jan
Šalanda Ondřej, Ing.
Pavelka Antonín
Wieben Eric
Zendulka Jaroslav, doc. Ing., CSc., UIFS (FIT)
Brezovský Jan
Damborský Jiří, prof. Mgr., Dr., UMEL (FEKT)
Thistool estimates the effect of amino acid substitutions on proteinfunction. The predictions are based on the results of the existingtools MAPP, PhD-SNP, PolyPhen-1, PolyPhen-2, SIFT and SNAP. Theprinciple of consensual approach is described in: "Bendl et. al.(2014) PredictSNP: Robust and Accurate Consensus Classifier forPrediction of Disease-Related Mutations. PLoS Computational Biology,10.". The user interface shows not only the overall results and theresults of underlying tools but also the experimental annotationsextracted from PMD and Uniprot databases.
SNP, single nucleotide polymorphism, SNV, single nucleotide variant, pathogenicity prediction, disease-related mutations
Nástroj je volně dostupný pro akademickou komunitu. Nelze použít pro komerční účely (z důvodu ochrany práv třetích stran - několika integrovaných metod s nesvobodnou licencí).