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Uncovering splicing-mediated disease associations in the UK Biobank and All of Us using a TWAS with Bayesian joint fine-mapping
2025-09-21
genetic and genomic medicine
Title + abstract only
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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 R2 > 0.01 in withheld individuals. These models were used to predict splicing in the UK Biobank White-British subset...
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