Sequencing of Epigenetic Marks

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The ultimate goal is to more accurately sequence the mammalian genome, for the first time identifying both of the modified DNA bases (epigenetic marks) of 5-methylcytosine (5mC) and 5-hydroxymethylcytosine (5hmC) in addition to the 4 primary bases. This will lead to better knowledge of cell function, have important implications in stem cell research, personalised and regenerative medicines, and show substantial commercial utility. All cells in the body have the same DNA sequence but its interpretation (epigenetics) results in formation of different cell types. 5-mC is a well-known epigenetic mark, but the function of 5-hmC is as yet unknown. Our method specifically locates and quantifies these epigenetic marks together in DNA. We will optimise this method to allow its commercial use more widely on more difficult cell types and the whole human genome. Decoding these epigenetic marks will provide greater understanding of cell regulation and could open up new ways of diagnosing disease.