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Chunk #9 — Results — Genome-Wide Screen for Putative cis- and trans-Acting Expression Quantitative Trait Loci

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Mapping the genetic architecture of gene expression in human liver.
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The significance of the trans eQTL in the HLC were also assessed by the Bonferroni method and by constraining the empirically determined FDR to be less than 10%. In the case of trans eQTL, all 782,476 SNPs were tested for association to each of the 39,280 expression traits. Therefore, the Bonferroni adjusted p-value threshold was computed as 0.05/(782,476 × 39,280) = 1.6 × 10−12. At this threshold, 242 expression traits corresponding to 236 genes were significantly associated with a SNP in trans (referred to here as a trans eQTL). On the other hand, by constraining the FDR to be less than 10%, 491 expression traits corresponding to 474 genes were identified as significantly associated with a SNP in trans. For the FDR-computed cis and trans eQTL signatures, the trans eQTL signature was only 15% the size of the cis eQTL signature, consistent with findings in other human genetics of gene expression studies [12,13]. The smaller trans eQTL signature likely reflects a lack of power to detect the small-to-moderate eQTL effects, given the sample size of this study in the context