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

Bioinformatics. 2020 Mar 1;36(5):1634-1636. doi: 10.1093/bioinformatics/btz784.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alternative Splicing
  • RNA Splicing*
  • Software*