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

Raphaël Leman; Valentin Harter; Alexandre Atkinson; Grégoire Davy; Antoine Rousselin; Étienne Muller; Laurent Castera; Frédéric Lemoine; Pierre de la Grange; Marine Guillaud-Bataille; Dominique Vaur; Sophie Krieger

doi:10.1093/bioinformatics/btz784

Journal articles

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

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

Document type :

Journal articles

Domain :

Life Sciences [q-bio] / Quantitative Methods [q-bio.QM]

Life Sciences [q-bio] / Cancer

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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 : Wednesday, December 23, 2020 - 5:00:02 PM

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

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

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