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Chunk #11 — Results — Local genetic effects on blood gene expression

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Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression.
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When comparing our results to the 5,440 protein-coding cis-eQTL genes previously identified in 5,311 samples5, the lead SNPs typically mapped closer to the cis-eQTL gene (Supplementary Figure 4). In GWAS studies, larger sample sizes and denser imputation panels increase the resolution of signals in associated loci, especially for weaker effects. Additionally, GWAS simulations have indicated that lead GWAS signals map near the causal variant (within 33.5kb in 80% of cases)21. Since the majority of the lead cis-eQTL variants from our study map within 100kb of the TSS and TES, we consider it likely that causal variants for gene expression are also within these regions.