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Single-cell genetics identifies cell type-specific causal mechanisms in complex traits and diseases
2025-08-29
genetic and genomic medicine
Title + abstract only
View on medRxiv
Show abstract
Genome-wide association studies (GWAS) have been instrumental in uncovering the genetic basis of complex traits. When integrated with expression quantitative trait loci (eQTL) mapping, they can elucidate how risk loci influence traits through gene regulatory mechanisms. Recent single-cell eQTL (sc-eQTL) studies suggest that genetic effects on gene expression are often cell type- and subtype-specific, but such datasets have so far been underpowered for causal inference. Here, we leverage results ...
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