SpliceLauncher: a tool for detection, annotation and relative quantification of alternative junctions from RNAseq data
Sign Up to like & getrecommendations! Published in 2020 at "Bioinformatics"
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… read more here.
Keywords: quantification alternative; splicelauncher tool; annotation relative; relative quantification ... See more keywords