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Investigating the Human Genome: Insights into Human Variation and Disease Susceptibility by Moyra Smith

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3. Epigenetics: modifications of DNA, chromatin, and gene expression

The definition of epigenetics has changed over the past decade as scientists carry out in-depth analyses of chromatin modification and gene expression. In 2007, Adrian Bird proposed that the term epigenetics refer to “the structural adaptation of chromosomal regions so as to register, signal, or perpetuate altered activity states.” Bird noted that this definition includes transient modifications and stable changes maintained across multiple cell generations.

Information on the extent and nature of epigenetic modifications has increased rapidly over the past decade with the advent of techniques that enable genome-wide methylation analysis. Important advances in the analysis ...

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