Abstrakt

Bioinformatic tools status in the characterization of functional SNP of candidate genes

Maha Rebai

Single-nucleotide polymorphisms (SNPs) play a major role in the understanding the genetic basis of many complex human diseases as well as phenotypic variations. However, the identification of SNP responsible for specific phenotypes appears to be a problem that is very difficult to solve, requiring multiple testing of hundreds or thousands of SNPs in candidate genes (1). There are many publicly available bioinformatics tools that can provide a functional significance of the variation and subsequently reduce the number of experimental analysis that are laborious and time-consuming.