[Computational analysis of human genome polymorphism].

Whereas the genome-era technologies have produced the sequence of complete human genome, the modern post-genome technologies aim at the understanding of mechanisms of processing of genetic information and elucidation of within-species variation. Single nucleotide polymorphisms (SNPs) comprise the majority of polymorphism in the human population. Non-synonymous coding SNPs together with SNPs in regulatory regions are believed to have the highest impact on complex disease etiology, quantitative traits and response to drug treatment. PolyPhen is a computational tool for prediction of putatively functional nsSNPs with application areas such as genetics of complex disease, birth defects, identification of functional mutations in model organisms and evolutionary genetics.