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Chunk #0 — Study design

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Genetic effects on gene expression across human tissues.
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The GTEx project has created a reference resource of gene expression levels from ‘normal’, non-diseased tissues. Every tissue sample was examined histologically; the sample was accepted for the project if the tissue was non-diseased and in the normal range for the age of the donor. RNA was isolated from postmortem samples in an ongoing manner as donors were enrolled into the study. For this data release, 44 sampled regions or cell lines were considered, each from at least 70 donors, and thereby considered suitable for eQTL analysis: 31 solid- organ tissues, 10 brain subregions including duplicates of two regions (cortex and cerebellum), whole blood, and two cell lines derived from donor blood and skin samples. We hereafter refer to these tissues, regions, and cell lines as the ‘tissues’ used in eQTL analysis. A total of 7,051 samples from 449 donors represent the GTEx v6p analysis freeze (Fig. 1a; Supplementary Information 1–5; Supplementary Figs 1–6; Supplementary Tables 1–10). RNA sequencing (RNA-seq) samples were sequenced to a median depth of 78 million reads. This is 4.3 times more samples than reported in