To translate from genetic signals to mechanisms, associations with gene expression levels or expression quantitative trait loci (eQTL) have shown great potential. Cis-eQTLs (nearby) and trans-eQTLs (distal) can aid the interpretation of GWAS loci in several ways. Cis-eQTLs provide direct links between genes and phenotypes through causal inference approaches such as Mendelian randomization (MR) and genetic co-localization analyses, whereas trans-eQTLs expose sets of downstream genes and pathways on which the effects of disease variants converge.
