Hakhamanesh Mostafavi

Oct 19, 2023 | nature.com | Hakhamanesh Mostafavi |Jeffrey P. Spence |Sahin Naqvi

AbstractMost signals in genome-wide association studies (GWAS) of complex traits implicate noncoding genetic variants with putative gene regulatory effects. However, currently identified regulatory variants, notably expression quantitative trait loci (eQTLs), explain only a small fraction of GWAS signals. Here, we show that GWAS and cis-eQTL hits are systematically different: eQTLs cluster strongly near transcription start sites, whereas GWAS hits do not.