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Chunk #22 — Results — Characteristics of distant eQTLs: many are false, hotspots are few

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Heritability and genomics of gene expression in peripheral blood.
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Robust distant eQTL results (Figure 4c, expression transformed to an exact normal) were again consistent with published studies, roughly linear (log-log scale) with sample size.15 For NTR, we obtained a robust set of 348 distant eQTLs by applying stricter significance criteria (q<0.001) followed by additional careful QC (see below). Extrapolating to larger sample sizes, we anticipate identifying <1,000 replicating eQTLs even for samples sizes exceeding 5,000. Figure 4d shows overlap of genes with significant distant eQTLs (q<0.001) among the large studies, with much lower overlap for distant than local eQTLs. For significant distant gene-SNP pairs from Westra et al.29 (n=5,311), estimated true-discovery rates in NTR and NESDA were 23.1% and 23.0% (Supplementary Figure 8).