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

Autor: Marta F. Nabais, Danni A. Gadd, Eilis Hannon, Jonathan Mill, Allan F. McRae, Naomi R. Wray
Jazyk: angličtina
Rok vydání: 2023
Předmět:
Zdroj: Genome Biology, Vol 24, Iss 1, Pp 1-23 (2023)
Druh dokumentu: article
ISSN: 1474-760X
DOI: 10.1186/s13059-023-02855-7
Popis: Abstract 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.
Databáze: Directory of Open Access Journals