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Chunk #10 — eQTL analyses: Single-tissue eQTL analysis

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Human genomics. The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans.
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To investigate the sensitivity and validity of our study, in particular because we used tissues from deceased donors, we compared the GTEx blood eQTLs to a previously reported eQTL study of whole blood samples in ~5300 individuals (7). Although many experimental and processing differences exist between these studies, a considerable fraction of GTEx eGenes (68%) were replicated in this study at FDR < 5% (14). Given the incomplete overlap in variants tested, we also compared our eQTLs against a smaller study of 911 blood samples taken from the Estonian Biobank, where we were able to apply a similar eQTL analysis pipeline to that used in GTEx and hence get better SNP coverage (fig. S11) (14). Notably, 98% of GTEx blood eQTLs at FDR < 5% showed consistent allelic direction with those eQTLs (P < 10−200, binomial test) (14).