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Article

Redefining tissue specificity of genetic regulation of gene expression in the presence of allelic heterogeneity.

American journal of human genetics - 3 Feb 2022

Arvanitis Marios, Tayeb Karl, Strober Benjamin J, Battle Alexis

Abstract excerpt

Uncovering the functional impact of genetic variation on gene expression is important in understanding tissue biology and the pathogenesis of complex traits. Despite large efforts to map expression quantitative trait loci (eQTLs) across many human tissues, our ability to translate those findings to understanding human disease has been incomplete, and the majority of disease loci are not explained by association...

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Identifiers

PMID: 35085493
DOI: 10.1016/j.ajhg.2022.01.002
PMCID: PMC8874223

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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