Estimating cell-type-specific DNA methylation effects in heterogeneous cellular populations
Journal
Epigenomics
Journal Volume
13
Journal Issue
2
Pages
87-97
Date Issued
2021
Author(s)
Abstract
Aim: To develop a method for estimating cell-specific effects in epigenomic association studies in the presence of cell type heterogeneity. Materials & methods: We utilized Monte Carlo Expectation-Maximization algorithm with Metropolis-Hastings sampler to reconstruct the †missing' cell-specific methylations and to estimate their associations with phenotypes free of confounding by cell type proportions. Results: Simulations showed reliable performance of the method under various settings including when the cell type is rare. Application to a real dataset recapitulated the directly measured cell-specific methylation pattern in whole blood. Conclusion: This work provides a framework to identify important cell groups and account for cell type composition useful for studying the role of epigenetic changes in human traits and diseases.
Publisher
Future Medicine Ltd.
Type
journal article