An overview of DNA methylation-derived trait score methods and applications

Microarray technology has been used to measure genome-wide DNA methylation in thousands of individuals. These studies typically test the associations between individual DNA methylation sites ("probes") and complex traits or diseases. The results can be used to generate methylation profile...

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Published inGenome Biology Vol. 24; no. 1; pp. 28 - 23
Main Authors Nabais, Marta F, Gadd, Danni A, Hannon, Eilis, Mill, Jonathan, McRae, Allan F, Wray, Naomi R
Format Journal Article
LanguageEnglish
Published England BioMed Central 16.02.2023
BMC
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Summary:Microarray technology has been used to measure genome-wide DNA methylation in thousands of individuals. These studies typically test the associations between individual DNA methylation sites ("probes") and complex traits or diseases. The results can be used to generate methylation profile scores (MPS) to predict outcomes in independent data sets. Although there are many parallels between MPS and polygenic (risk) scores (PGS), there are key differences. Here, we review motivations, methods, and applications of DNA methylation-based trait prediction, with a focus on common diseases. We contrast MPS with PGS, highlighting where assumptions made in genetic modeling may not hold in epigenetic data.
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ISSN:1474-760X
1474-7596
1474-760X
DOI:10.1186/s13059-023-02855-7