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Article

Rare genetic variants underlie outlying levels of DNA methylation and gene-expression.

Human molecular genetics - 18 May 2023

Chundru V Kartik, Marioni Riccardo E, Prendergast James G D, Lin Tian, Beveridge Allan J, Martin Nicholas G, Montgomery Grant W, Hume David A, Deary Ian J, Visscher Peter M, Wray Naomi R, McRae Allan F

Abstract excerpt

Testing the effect of rare variants on phenotypic variation is difficult due to the need for extremely large cohorts to identify associated variants given expected effect sizes. An alternative approach is to investigate the effect of rare genetic variants on DNA methylation (DNAm) as effect sizes are expected to be larger for molecular traits compared with complex traits. Here, we investigate DNAm in healthy...

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Identifiers

PMID: 36790133
DOI: 10.1093/hmg/ddad028
PMCID: PMC10196672

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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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