Nature Reviews Genetics 13, 705-719 (October 2012) | doi:10.1038/nrg3273

Article series: Computational tools

Analysing and interpreting DNA methylation data

Christoph Bock1  About the author


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.

Author affiliations

  1. CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, 1090 Vienna, Austria; Department of Laboratory Medicine, Medical University of Vienna, 1090 Vienna, Austria; and Max Planck Institute for Informatics, 66123 Saarbrücken, Germany.

Correspondence to: Christoph Bock1 Email:

Published online 18 September 2012