Published September 29, 2025
| Version v1
Dataset
Open
BigBrain: Genetic analysis of gene expression in 10,725 human brain transcriptomes
Authors/Creators
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1.
Mount Sinai Hospital
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2.
New York Genome Center
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3.
Icahn School of Medicine at Mount Sinai
- 4. Mount Sinai School of Medicine
- 5. Columbia University
Description
The genetic regulation of the human brain is not completely understood. GWAS studies have shown that a majority of trait-associated variants reside in the non-coding genome. To study the effect of these variants on the brain, we assembled a multi-ancestry multi-tissue resource of paired RNA-DNA data from 4,656 individuals across 10,725 samples from publicly available cohorts. Using a mixed model that accounts for sample overlaps, diverse ancestry, and effect size heterogeneity across tissues, we mapped cis-eQTLs. We found that the meta-analysis significantly boosted discovery compared to individual cohorts helping us find 22,663 eGenes.
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