Guidance for the design and analysis of cell-type-specific DNA methylation epidemiology studies.

ABSTRACT: Recent studies on the role of epigenetics in disease have focused on DNA methylation (DNAm) profiled in bulk tissues limiting the detection of the cell type affected by disease-related changes. Advances in isolating homogeneous populations of cells now make it possible to identify DNAm differences associated with disease in specific cell types. Critically, these datasets will require a bespoke analytical framework that can characterize whether the difference affects multiple or is specific to a particular cell type. We take advantage of a large set of DNAm profiles (n = 751) obtained from five different purified cell populations isolated from human prefrontal cortex samples and evaluate the effects on study design, data preprocessing, and statistical analysis for cell-specific studies, par

SUBMITTER: Walker EM 

PROVIDER: S-EPMC12368846 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature