QURNAS: Quantitative enrichment of aberrant splicing events in targeted RNA-seq data of pathogenic neurofibromatosis type 1 (NF1) RNA-splicing

QURNAS is a tool to quantify RNA splicing events from RNA-seq data. It will generate a file with all splicing events detected in the samples analysed which includes the number of reads per event for each sample. Additionally, it provides an enrichment score per sample and per event, as well as its statistical significance. This greatly facilitates the identification of aberrant RNA splicing events. A description of the event in HGVS nomenclature is also provided.