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

Published: 16/10/2019
SpliceLauncher: a tool for detection, annotation and relative quantification of alternative junctions from RNAseq data
Source: ACADEMIC.OUP.COM

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

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