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

Nat Commun. 2019 Jul 15;10(1):3113. doi: 10.1038/s41467-019-10864-z.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Arthritis, Rheumatoid / genetics
  • Asthma / genetics
  • Computational Biology
  • CpG Islands*
  • DNA Methylation
  • Datasets as Topic
  • Epigenome*
  • Genome-Wide Association Study / methods*