SpliceLauncher: a Tool for Detection, Annotation and Relative Quantification of Alternative Junctions from RNAseq Data

SUMMARY: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.AVAILABILITY AND IMPLEMENTATION:SpliceLauncher is available at https://github.com/raphaelleman/SpliceLauncher.SUPPLEMENTARY INFORMATION:Supplementary data are available at Bioinformatics online.