Article

Biobank-scale Bayesian TWAS reveals splicing-mediated mechanisms of complex disease

2025-09-21

Abstract excerpt

Alternative splicing is a key mechanism by which genetic variation contributes to human phenotypic diversity and disease risk, yet its incorporation into large-scale genetic studies remains limited. Here we utilize blood RNA-seq from 4,732 European-ancestry individuals in the INTERVAL cohort to construct genetic scores for junction-based splicing phenotypes, 13,851 of which showed R 2 > 0.01 in withheld individua...

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Literature Corpus work: 14fbed44-a580-53b3-b358-44e472bc5ee6
DOI: 10.1101/2025.09.19.25336165

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