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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
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https://hal-pasteur.archives-ouvertes.fr/pasteur-02862337
Contributor : Lemoine Frédéric <>
Submitted on : Tuesday, June 9, 2020 - 2:23:14 PM
Last modification on : Monday, June 29, 2020 - 5:03:41 PM

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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, Oxford University Press (OUP), 2019, 36 (5), pp.1634-1636. ⟨10.1093/bioinformatics/btz784⟩. ⟨pasteur-02862337⟩

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