PredictSNP: robust and accurate consensus classifier for prediction of disease-related mutations.

ABSTRACT: Single nucleotide variants represent a prevalent form of genetic variation. Mutations in the coding regions are frequently associated with the development of various genetic diseases. Computational tools for the prediction of the effects of mutations on protein function are very important for analysis of single nucleotide variants and their prioritization for experimental characterization. Many computational tools are already widely employed for this purpose. Unfortunately, their comparison and further improvement is hindered by large overlaps between the training datasets and benchmark datasets, which lead to biased and overly optimistic reported performances. In this study, we have constructed three independent datasets by removing all duplicities, inconsistencies and mutations previousl

SUBMITTER: Bendl J 

PROVIDER: S-EPMC3894168 | biostudies-literature | 2014 Jan

REPOSITORIES: biostudies-literature