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Updated: May 13, 2026

Targeted DNA Methylation Analysis by Next-generation Sequencing
Published on: February 24, 2015
Genome-wide DNA methylation analysis using massively parallel sequencing technologies
Masako Suzuki1, John M Greally
1Center for Epigenomics, Department of Genetics, Albert Einstein College of Medicine, Bronx, NY 10461, USA. masako.suzuki@einstein.yu.edu
Abstract:
"Epigenetics" refers to a heritable change in transcriptional status without alteration in the primary nucleotide sequence. Epigenetics provides an extra layer of transcriptional control and plays a crucial role in normal development, as well as in pathological conditions. DNA methylation is one of the best known and well-studied epigenetic modifications. Genome-wide DNA methylation profiling has become recognized as a biologically and clinically important epigenomic assay. In this review, we discuss the strengths and weaknesses of the protocols for genome-wide DNA methylation profiling using massively parallel sequencing (MPS) techniques. We will also describe recently discovered DNA modifications, and the protocols to detect these modifications.
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