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Article

Systematic differences in discovery of genetic effects on gene expression and complex traits.

Nature genetics - 1 Nov 2023

Mostafavi Hakhamanesh, Spence Jeffrey P, Naqvi Sahin, Pritchard Jonathan K

Abstract excerpt

Most 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...

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PMID: 37857933
DOI: 10.1038/s41588-023-01529-1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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