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

Raphaël Leman (1, 2, 3) , Valentin Harter (2) , Alexandre Atkinson (2) , Grégoire Davy (3, 1, 2) , Antoine Rousselin (2) , Étienne Muller (2) , Laurent Castera (2, 1, 3) , Frédéric Lemoine (4, 5) , Pierre de La Grange (6) , Marine Guillaud-Bataille (7) , Dominique Vaur (2, 1, 3) , Sophie Krieger (2, 1, 3)

1 GPMCND - Génomique et Médecine Personnalisée du Cancer et des Maladies Neuropsychiatriques
2 UNICANCER/CRLC - Centre Régional de Lutte contre le Cancer François Baclesse [Caen]
3 UNICAEN Santé - Université de Caen Normandie - UFR Santé
4 Bioinformatique évolutive - Evolutionary Bioinformatics
5 Hub Bioinformatique et Biostatistique - Bioinformatics and Biostatistics HUB
6 GenoSplice technology
7 IGR - Institut Gustave Roussy

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

Domains: Life Sciences [q-bio]; Quantitative Methods [q-bio.QM]; Life Sciences [q-bio]; Cancer

Raphaël Leman, Valentin Harter, Alexandre Atkinson, Grégoire Davy, Antoine Rousselin, et al.. SpliceLauncher: a tool for detection, annotation and relative quantification of alternative junctions from RNAseq data. Bioinformatics, 2019, 36 (5), pp.1634-1636. ⟨10.1093/bioinformatics/btz784⟩. ⟨pasteur-02862337⟩