Article

Origins and Implications of Intron Retention Quantitative Trait Loci in Human Tissues

2024-12-16

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 loci (irQTL) analysis in 49 human tissues across 838 individuals. We identify 8,624 unique intron retention events associated with genetic polymorphisms. 1,369 i...

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Literature Corpus work: 07dbe9e2-4357-586b-a574-0114ef2762e6
DOI: 10.1101/2024.12.13.628411

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