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Article

Quantifying genetic effects on disease mediated by assayed gene expression levels.

Nature genetics - 1 Jun 2020

Yao Douglas W, O'Connor Luke J, Price Alkes L, Gusev Alexander

Abstract excerpt

Disease variants identified by genome-wide association studies (GWAS) tend to overlap with expression quantitative trait loci (eQTLs), but it remains unclear whether this overlap is driven by gene expression levels 'mediating' genetic effects on disease. Here, we introduce a new method, mediated expression score regression (MESC), to estimate disease heritability mediated by the cis genetic component of gene...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32424349
DOI: 10.1038/s41588-020-0625-2
PMCID: PMC7276299

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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