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Article

Isoform-level analyses of 6 cancers uncover extensive genetic risk mechanisms undetected at the gene-level.

British journal of cancer - 1 Oct 2025

Chang Yung-Han, Bresnahan Sean T, Taylor Head S, Harrison Tabitha A, Yu Yao, Huff Chad D, Pasaniuc Bogdan, Lindström Sara, Bhattacharya Arjun

Abstract excerpt

BACKGROUND: Integrating genome-wide association study (GWAS) and transcriptomic datasets can identify mediators for genetic risk of cancer. Traditional methods often are insufficient as they rely on total gene expression measures and overlook alternative splicing, which generates different transcript-isoforms with potentially distinct effects. METHODS: We integrate multi-tissue isoform expression data from the...

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Identifiers

PMID: 40775447
DOI: 10.1038/s41416-025-03141-y
PMCID: PMC12449480

Genes

BABAM1
CLPTM1L
LAMC1

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