SCANVIS: a tool for SCoring, ANnotating and VISualizing splice junctions

Abstract

Abstract Motivation The association of splicing signatures with disease is a leading area of study for prognosis, diagnosis and therapy. We present a novel fast-performing annotation-dependent tool called SCANVIS for scoring and annotating splice junctions (SJs), with an efficient visualization tool that highlights SJ details such as frame-shifts and annotation support for individual samples or a sample cohort. Results Using publicly available samples, we show that the tissue specificity inherent in splicing signatures is maintained with the Relative Read Support scoring method in SCANVIS, and we showcase some visualizations to demonstrate the usefulness of incorporating annotation details into sashimi plots. Availability and implementation https://github.com/nygenome/SCANVIS and https://bioconductor.org/packages/SCANVIS. Supplementary information Supplementary data are available at Bioinformatics online.