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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… Click to show full 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 SpliceLauncher is available at https://github.com/raphaelleman/SpliceLauncher. SUPPLEMENTARY INFORMATION Supplementary data are available at Bioinformatics online.
Journal Title: Bioinformatics
Year Published: 2020
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