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
Epigenomicsjournal_title
Epigenomicsauthors
Feng YA,Guo Y,Pain L,Lathrop GM,Laprise C,Moffatt MF,Cookson WO,Liang Ldoi
10.2217/epi-2020-0147subject
Has Abstractpub_date
2020-12-22 00:00:00eissn
1750-1911issn
1750-192Xpub_type
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