SpliceLauncher: a tool for detection, annotation and relative quantification of alternative junctions from RNAseq data.

Abstract

Alternative splicing is an important biological process widely analyzed in molecular diagnostic settings. Indeed, a variant can be pathogenic by splicing alteration and a suspected pathogenic variant (e.g. truncating variant) can be rescued by splicing. In this context, detecting and quantifying alternative splicing is challenging. We developed SpliceLauncher, a fast and easy to use open source tool that aims at detecting, annotating and quantifying alternative splice junctions at high resolution. SpliceLauncher is available at https://github.com/raphaelleman/SpliceLauncher. Supplementary data are available at Bioinformatics online.