Figure 1: Data collection by the Genotype-Tissue Expression (GTEx) Consortium.

The consortium1,2,3,4collected tissue samples from 44 tissues in 449 human individuals. The researchers analysed these samples to look for genetic differences between individuals — in this example, one individual harbours two adenosine bases (As) at a particular point on two sister chromosomes, another harbours one A and one guanine (G), and a third harbours two Gs. The authors measured RNA levels to determine whether such genetic variation was associated with differences in gene expression (here, in the levels of RNA transcribed from gene X). Different genetic variants were associated with different expression in different tissues.