Detection of cell-type-specific differentially methylated regions in epigenome-wide association studies.

ABSTRACT:

Motivation

DNA methylation at cytosine-phosphate-guanine (CpG) sites is one of the most important epigenetic markers. Therefore, epidemiologists are interested in investigating DNA methylation in large cohorts through epigenome-wide association studies (EWAS). However, the observed EWAS data are bulk data with signals aggregated from distinct cell types. Deconvolution of cell-type-specific signals from EWAS data is challenging because phenotypes can affect both cell-type proportions and cell-type-specific methylation levels. Recently, there has been active research on detecting cell-type-specific risk CpG sites for EWAS data. However, existing methods all assume that the methylation levels of different CpG sites are independent and perform association detection for each CpG site se

SUBMITTER: Jia R 

PROVIDER: S-EPMC12261422 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature