New tools for expression alternative splicing validation

Alternative Splicing is one of the most important research targets in biology because it can explain the remarkably higher complexity of transcriptome and proteome of human and other metazoa with respect to their gene complement. The advent of DNA sequencing made the possibility to save the whole human genome in a ~3Gb database, that bioinformaticians can investigate by using suitable methods for deciphering its informational content. In particular, there is the necessity to develop ad-hoc tools in order to predict and validate possible splicing sites in human genes. Indeed, as a matter of fact recent experiments discovered that almost 15% of genetic diseases is caused by mutations affecting the alternative splicing pattern. This work proposes two tools - GeneParser and BowtieParser - for investigating the alternative splicing pattern, and specifically exon skip events, through the analysis of next generation sequencing data. © 2010 Springer-Verlag Berlin Heidelberg.