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Identification of Alternative Splicing and Polyadenylation in RNA-seq Data

Identification of Alternative Splicing and Polyadenylation in RNA-seq Data

Published on: June 24, 2021

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

Raphaël Leman^1,2,3, Valentin Harter⁴, Alexandre Atkinson¹

¹Laboratoire de biologie et de génétique du cancer, Centre François Baclesse, Caen 14076, France.

Bioinformatics (Oxford, England)

|October 17, 2019

Abstract

Summary:

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.

Availability And Implementation:

SpliceLauncher is available at https://github.com/raphaelleman/SpliceLauncher.

Supplementary Information:

Supplementary data are available at Bioinformatics online.

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