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Article

Partitioning gene-mediated disease heritability without eQTLs.

American journal of human genetics - 3 Mar 2022

Weiner Daniel J, Gazal Steven, Robinson Elise B, O'Connor Luke J

Abstract excerpt

Unknown SNP-to-gene regulatory architecture complicates efforts to link noncoding GWAS associations with genes implicated by sequencing or functional studies. eQTLs are often used to link SNPs to genes, but expression in bulk tissue explains a small fraction of disease heritability. A simple but successful approach has been to link SNPs with nearby genes via base pair windows, but genes may often be regulated by...

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PMID: 35143757
DOI: 10.1016/j.ajhg.2022.01.010
PMCID: PMC8948166

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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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