DNA methylation in health and disease
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Updated: Oct 9, 2026

Enhanced Reduced Representation Bisulfite Sequencing for Assessment of DNA Methylation at Base Pair Resolution
Published on: February 24, 2015
1Epigenetic Gene Regulation and Cancer Section, NCI, NIH, Building 41, 41 Library Drive, Bethesda, Maryland 20892-5431, USA.
Abstract:
DNA methylation has recently moved to centre stage in the aetiology of human neurodevelopmental syndromes such as the fragile X, ICF and Rett syndromes. These diseases result from the misregulation of genes that occurs with the loss of appropriate epigenetic controls during neuronal development. Recent advances have connected DNA methylation to chromatin-remodelling enzymes, and understanding this link will be central to the design of new therapeutic tools.
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