Detection of cell-type-specific risk-CpG sites in epigenome-wide association studies

Xiangyu Luo, Can Yang () and Yingying Wei ()
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Xiangyu Luo: Renmin University of China
Can Yang: The Hong Kong University of Science and Technology
Yingying Wei: The Chinese University of Hong Kong

Nature Communications, 2019, vol. 10, issue 1, 1-12

Abstract: Abstract In epigenome-wide association studies, the measured signals for each sample are a mixture of methylation profiles from different cell types. Current approaches to the association detection claim whether a cytosine-phosphate-guanine (CpG) site is associated with the phenotype or not at aggregate level and can suffer from low statistical power. Here, we propose a statistical method, HIgh REsolution (HIRE), which not only improves the power of association detection at aggregate level as compared to the existing methods but also enables the detection of risk-CpG sites for individual cell types.

Date: 2019
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DOI: 10.1038/s41467-019-10864-z

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