Intron retention is a widespread mechanism of tumor-suppressor inactivation.

Abstract excerpt

A substantial fraction of disease-causing mutations are pathogenic through aberrant splicing. Although genome profiling studies have identified somatic single-nucleotide variants (SNVs) in cancer, the extent to which these variants trigger abnormal splicing has not been systematically examined. Here we analyzed RNA sequencing and exome data from 1,812 patients with cancer and identified ∼900 somatic exonic SNVs...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Alternative Splicing
• Share to Codon, Nonsense