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Updated: May 19, 2026

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Enhanced Reduced Representation Bisulfite Sequencing for Assessment of DNA Methylation at Base Pair Resolution
Published on: February 24, 2015
DNA methylation profiling in the clinic: applications and challenges.
1Cancer Epigenetics and Biology Program (PEBC), Bellvitge Biomedical Research Institute (IDIBELL), 08908 L'Hospitalet de Llobregat, Barcelona, Catalonia, Spain.
Nature Reviews. Genetics
|September 5, 2012
Summary
Epigenetic alterations, especially DNA methylation, are increasingly important for diagnosing and treating diseases. Epigenetic profiling shows clinical value in cancer and may extend to neurological and autoimmune disorders.
Area of Science:
- Biochemistry
- Genetics
- Molecular Biology
Background:
- Genome-wide techniques are rapidly advancing the identification of epigenetic alterations in disease.
- Epigenetic alterations, particularly DNA methylation, play a crucial role in disease pathogenesis.
- The growing number of identified epigenetic alterations highlights their significance for clinical applications.
Purpose of the Study:
- To review the current state and future potential of epigenetic profiling in disease.
- To emphasize the clinical value of epigenetic alterations, especially DNA methylation.
- To explore the extension of epigenetic profiling to various disease types.
Main Methods:
- Review of current literature on epigenetic profiling techniques.
- Analysis of the role of DNA methylation in disease.
- Discussion of clinical applications in cancer and other disorders.
Main Results:
- Epigenetic profiling is becoming clinically valuable, particularly in oncology.
- DNA methylation is a key epigenetic alteration with diagnostic and prognostic implications.
- Epigenetic profiling holds promise for neurological and autoimmune diseases.
Conclusions:
- Epigenetic profiling is a rapidly evolving field with significant clinical potential.
- DNA methylation analysis is crucial for personalized medicine approaches.
- The application of epigenetic profiling is expected to expand beyond cancer to other complex diseases.

