Article
Blind prediction of deleterious amino acid variations with SNPs&GO.
Human mutation - 1 Sept 2017
Capriotti Emidio, Martelli Pier Luigi, Fariselli Piero, Casadio Rita
Abstract excerpt
SNPs&GO is a machine learning method for predicting the association of single amino acid variations (SAVs) to disease, considering protein functional annotation. The method is a binary classifier that implements a support vector machine algorithm to discriminate between disease-related and neutral SAVs. SNPs&GO combines information from protein sequence with functional annotation encoded by gene ontology (GO)...
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