Detecting differentially methylated regions with multiple distinct associations

Epigenomics. 2021 Mar;13(6):451-464. doi: 10.2217/epi-2020-0344. Epub 2021 Mar 1.

Abstract

Aim: We evaluated five methods for detecting differentially methylated regions (DMRs): DMRcate, comb-p, seqlm, GlobalP and dmrff. Materials & methods: We used a simulation study and real data analysis to evaluate performance. Additionally, we evaluated the use of an ancestry-matched reference cohort to estimate correlations between CpG sites in cord blood. Results: Several methods had inflated Type I error, which increased at more stringent significant levels. In power simulations with 1-2 causal CpG sites with the same direction of effect, dmrff was consistently among the most powerful methods. Conclusion: This study illustrates the need for more thorough simulation studies when evaluating novel methods. More work must be done to develop methods with well-controlled Type I error that do not require individual-level data.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Computer Simulation*
  • CpG Islands*
  • DNA Methylation*
  • Epigenesis, Genetic*
  • Female
  • Fetal Blood / metabolism*
  • Gene Expression Profiling
  • Gene Expression Regulation*
  • Humans
  • Infant
  • Male
  • Models, Genetic*
  • Prospective Studies