SpliceLauncher: a tool for detection, annotation and relative quantification of alternative junctions from RNAseq data - Institut Pasteur Access content directly
Journal Articles Bioinformatics Year : 2019

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

Dates and versions

pasteur-02862337 , version 1 (09-06-2020)

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Cite

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⟩
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