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Updated: Jul 3, 2026

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Targeted DNA Methylation Analysis by Next-generation Sequencing
Published on: February 24, 2015
Optical mapping discerns genome wide DNA methylation profiles.
Gene E Ananiev1, Steve Goldstein, Rod Runnheim
1Department of Chemistry, Laboratory for Molecular and Computational Genomics, University of Wisconsin Biotechnology Center, University of Wisconsin-Madison, Madison, WI 53706, USA. geananiev@wisc.edu
BMC Molecular Biology
|August 1, 2008
Summary
Optical mapping enables single-molecule DNA methylation profiling without chemical modifications or PCR. This advanced epigenetic technology accurately detects methylation patterns across entire genomes, including complex regions.
Area of Science:
- Epigenetics
- Genomics
- Molecular Biology
Background:
- CpG dinucleotide methylation is a key epigenetic regulatory mechanism.
- Genome-wide methylation profiling is crucial for epigenetics research.
- Single-molecule approaches offer advantages by avoiding chemical DNA modification and PCR amplification.
Purpose of the Study:
- To present a single-molecule optical mapping approach for DNA methylation profiling.
- To demonstrate the capabilities of optical mapping for whole-genome methylation analysis.
Main Methods:
- Utilized optical mapping for single-molecule DNA methylation detection.
- Applied the platform to analyze methylation profiles in *Escherichia coli* (engineered and wild type).
- Profiled methylation status at selected loci in human embryonic stem cells.
Main Results:
- Optical mapping successfully discerned methylation profiles in both bacterial and human cell genomes.
- Demonstrated the platform's capability for whole-genome methylation profiling.
- Successfully identified methylation status at specific genomic loci.
Conclusions:
- The optical mapping platform is effective for detecting DNA methylation patterns.
- Single-molecule detection provides advantages over other technologies, eliminating the need for bisulfite treatment.
- Optical mapping can analyze methylation in repeat-dense mammalian genome regions, which are challenging for array-based methods.

