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Virchows Arch. 2010 Jan;456(1):13-21. doi: 10.1007/s00428-009-0847-2. Epub 2009 Oct 21.

Genome-scale approaches to the epigenetics of common human disease.

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Center for Epigenetics and Department of Medicine, Johns Hopkins University School of Medicine, 855 N. Wolfe St., Rangos 570, Baltimore, MD 21205, USA.


Traditionally, the pathology of human disease has been focused on microscopic examination of affected tissues, chemical and biochemical analysis of biopsy samples, other available samples of convenience, such as blood, and noninvasive or invasive imaging of varying complexity, in order to classify disease and illuminate its mechanistic basis. The molecular age has complemented this armamentarium with gene expression arrays and selective analysis of individual genes. However, we are entering a new era of epigenomic profiling, i.e., genome-scale analysis of cell-heritable nonsequence genetic change, such as DNA methylation. The epigenome offers access to stable measurements of cellular state and to biobanked material for large-scale epidemiological studies. Some of these genome-scale technologies are beginning to be applied to create the new field of epigenetic epidemiology.

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