Origins and implications of intron retention quantitative trait loci in human tissues

Intron retention is an important form of RNA variation. We mapped intron retention quantitative trait loci (irQTLs) in human tissues. irQTLs can generate expression quantitative trait loci (eQTLs) through the nonsense-mediated decay pathway. eQTLs can generate irQTLs by altering the steady-state ratios of spliced and unspliced transcripts.