Article

Mapping genetic effects on splicing in ten thousand post-mortem brain samples reveals novel mediators of neurological disease risk

2025-09-26

Abstract excerpt

Alternative splicing shapes isoform diversity and gene dosage but how genetic variation impacts splicing in brain disease is still not fully characterized. We assembled BigBrain, a multi-ancestry resource of 10,725 bulk RNA-seq profiles with matched genotypes from 4,656 individuals across 43 tissue-cohort pairs, and mapped 68,358 cis -sQTLs affecting 10,966 genes using mixed-model meta-analysis. Using SuSiE, we f...

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Literature Corpus work: 6ed99d50-2042-51e8-b261-45bcdc78b613
DOI: 10.1101/2025.09.25.25336663

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