EFIN: predicting the functional impact of nonsynonymous single nucleotide polymorphisms in human genome.

ABSTRACT:

Background

Predicting the functional impact of amino acid substitutions (AAS) caused by nonsynonymous single nucleotide polymorphisms (nsSNPs) is becoming increasingly important as more and more novel variants are being discovered. Bioinformatics analysis is essential to predict potentially causal or contributing AAS to human diseases for further analysis, as for each genome, thousands of rare or private AAS exist and only a very small number of which are related to an underlying disease. Existing algorithms in this field still have high false prediction rate and novel development is needed to take full advantage of vast amount of genomic data.

Results

Here we report a novel algorithm that features two innovative changes: 1. making better use of sequence conservation informa

SUBMITTER: Zeng S 

PROVIDER: S-EPMC4061446 | biostudies-literature | 2014 Jun

REPOSITORIES: biostudies-literature