Figure 1:

Combining GWAS and eQTL data. (a) By comparing affected and control individuals, disease risk can be associated with genotype at many loci, indicated by red asterisks. Even in large studies, many loci show weak evidence of association, represented by short accumulations of asterisks, and the function of intergenic mutations is unclear. (b) Correlating genotypes with expression levels in healthy subjects can reveal the targets of eQTL variants (orange asterisks). Here, mutations from (a) correlate with expression changes in gene B but not gene A, suggesting possible involvement in disease.