Estimating cell-type-specific DNA methylation effects in heterogeneous cellular populations.

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 (MCEM) 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.

journal_name

Epigenomics

journal_title

Epigenomics

authors

Feng YA,Guo Y,Pain L,Lathrop GM,Laprise C,Moffatt MF,Cookson WO,Liang L

doi

10.2217/epi-2020-0147

subject

Has Abstract

pub_date

2020-12-22 00:00:00

eissn

1750-1911

issn

1750-192X

pub_type

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