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A guide to investigating methylation in the human genome

This guide provides an introduction to the direct sequencing of DNA methylation in human genomes.

Using nanopore sequencing, it is possible to prepare and sequence native DNA and RNA molecules, without the need for PCR. This enables the direct detection of intact methylation alongside nucleotide sequence, without the need for any chemical conversion or additional library preparation steps. Providing unprecedented resolution of methylation in targeted regions or across the whole human genome, the end-to-end nanopore workflows combine simple library preparation with flexible sequencing options to suit your experimental goals.

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Epigenetics, the study of chemical modifications that can alter phenotype without altering nucleotide sequence, is an ever-growing field of research. The most well-characterised and widely studied epigenetic modification in mammalian genomes, and especially in humans, is 5mC DNA methylation — the addition of a methyl group to a cytosine nucleotide. Methylation plays an important role in regulating gene expression, with aberrant methylation in gene promoters associated with disease.