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

Lien vers Pubmed [PMID] – 31617569

Bioinformatics 2019 Oct;

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.