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Article

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

American journal of human genetics - 4 Dec 2025

Park Eddie, Xing Yi

Abstract excerpt

Intron retention is a type of alternative splicing in which introns remain unspliced in mature RNA transcripts. In order to explore the landscape and consequences of genetically regulated intron retention, we perform an intron retention quantitative trait locus (irQTL) analysis in 49 human tissues across 838 individuals. We identify 8,624 unique intron retention events associated with genetic polymorphisms. 1,369...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41192419
DOI: 10.1016/j.ajhg.2025.10.002
PMCID: PMC12808957

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