Epigenomics: Sequencing the Methylome

  • Martin Hirst
Part of the Methods in Molecular Biology book series (MIMB, volume 973)


DNA methylation patterns are increasingly surveyed through methods that utilize massively parallel sequencing. Sequence-based assays developed to detect DNA methylation can be broadly divided into those that depend on affinity enrichment, chemical conversion, or enzymatic restriction. The DNA fragments resulting from these methods are uniformly subjected to library construction and massively parallel sequencing. The sequence reads are subsequently aligned to a reference genome and subjected to specialized analytical tools to extract the underlying methylation signature. This chapter will outline these emerging techniques.

Key words

Epigenetics Epigenomics DNA methylation Massively parallel sequencing 



I would like to thank all of my colleagues in the field who have contributed the data discussed in this article and apologize to all those whose work has not been included because of space constraints. This work was supported by the US National Institutes of Health (NIH) Roadmap Epigenomics Program, NIH grant 5U01ES017154-02, and the Canadian Institutes of Health Research Grant 92093.


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Copyright information

© Springer Science+Business Media, LLC 2013

Authors and Affiliations

  1. 1.Department of Microbiology and Immunology, Centre for High-Throughput BiologyUniversity of British ColumbiaVancouverCanada
  2. 2.BC Cancer AgencyCanada’s Michael Smith Genome Sciences CentreVancouverCanada

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