The Genotype-Tissue Expression (GTEx) project

Abstract

Genome-wide association studies have identified thousands of loci for common diseases, but, for the majority of these, the mechanisms underlying disease susceptibility remain unknown. Most associated variants are not correlated with protein-coding changes, suggesting that polymorphisms in regulatory regions probably contribute to many disease phenotypes. Here we describe the Genotype-Tissue Expression (GTEx) project, which will establish a resource database and associated tissue bank for the scientific community to study the relationship between genetic variation and gene expression in human tissues.

Figure 1

Effect of sample size and MAF on power to detect eQTLs. (a) Power for cis-eQTL analysis in which we assume α = 0.05/200,000, reflecting Bonferroni correction for 200,000 hypotheses based on 20,000 genes and an average of 10 non-redundant SNPs in the region ±100 kb of each gene. (b) Power for trans-eQTL analysis in which we test 20,000 genes against 5 million SNPS in a total of 1 × 10¹¹ tests with α = 5 × 10⁻¹³.