Analysing and interpreting DNA methylation data

Nat Rev Genet. 2012 Oct;13(10):705-19. doi: 10.1038/nrg3273.


DNA methylation is an epigenetic mark that has suspected regulatory roles in a broad range of biological processes and diseases. The technology is now available for studying DNA methylation genome-wide, at a high resolution and in a large number of samples. This Review discusses relevant concepts, computational methods and software tools for analysing and interpreting DNA methylation data. It focuses not only on the bioinformatic challenges of large epigenome-mapping projects and epigenome-wide association studies but also highlights software tools that make genome-wide DNA methylation mapping more accessible for laboratories with limited bioinformatics experience.

Publication types

  • Review

MeSH terms

  • Algorithms
  • Animals
  • Base Sequence
  • DNA Methylation* / physiology
  • Data Interpretation, Statistical*
  • Data Mining / methods*
  • Databases, Genetic / statistics & numerical data*
  • Genetic Association Studies / methods*
  • Genetic Association Studies / statistics & numerical data
  • Humans
  • Models, Biological