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This work fine-mapped UK Biobank-derived genome-wide association study (GWAS) signals from 164 traits and identified e/sQTL colocalizations for 10,611 GWAS signals, including 7096 that colocalize with secondary e/sQTLs.
A consolidated cellular-resolution transcriptomic atlas of human brain development from the onset of neurogenesis to adulthood is presented, covering ∼2.2 million cells from 156 donors across nine studies, and dynamic gene programs predictive of cell-type maturation are identified.
Findings link a population-enriched missense variant to disrupted chromatin regulation, genome stability, and neurodevelopmental timing, bridging human genetic risk with cellular pathophysiology.
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