SNAP: predict effect of non-synonymous polymorphisms on function

Many genetic variations are single nucleotide polymorphisms (SNPs). Non-synonymous SNPs are 'neutral' if the resulting point-mutated protein is not functionally discernible from the wild type and 'non-neutral' otherwise. The ability to identify non-neutral substitutions could significantly aid targeting disease causing detrimental mutations, as well as SNPs that increase the fitness of particular phenotypes. Here, we introduced comprehensive data sets to assess the performance of methods that predict SNP effects. Along we introduced SNAP (screening for non-acceptable polymorphisms), a neural network-based method for the prediction of the functional effects of non-synonymous SNPs. SNAP needs only sequence…

• UN
  U.S. National Library of Medicine

  Award: T15-LM007079