Identifying noncoding loss-of-function DNA variants is a major bottleneck of whole genome interpretation, as predicting function outside coding regions is difficult 1. Variants altering splicing ...

The robust detection of disease-associated splice events from RNAseq data is challenging due to the potential confounding effect of gene expression levels and the often limited number of patients with ...

A wide spectrum of cancer-associated genetic alterations, including those that result in changes to the splicing of pre–messenger RNA (mRNA), can lead to the presentation of aberrant peptides as ...

Alternative splicing (AS) is a key technique for increasing transcriptome and proteomic diversity from a small genome. Almost all human gene transcripts are alternatively spliced, resulting in protein ...