Západočeská univerzita v Plzni, Fakulta elektrotechnická
Abstract
Single nucleotide polymorphisms are the substitution of one nucleotide in the DNA sequence that may or may not have phenotypic consequences. Here we describe a new system for ranking non-synonymous protein substitutions by their deleterious effects. The computational core of the proposed system is based on a rational combination of the results from the selected subset of publicly available tools. The weight coefficients for the individual tools are calculated on the basis of their confidence score and their reliabilities are assigned accordingly to their performance measured on the extensive dataset. The validation of the performance on the dataset consisting of 5 000 substitutions shows that overall accuracy of the system was improved by 6% in comparison to the simple majority vote
