Complimentary Guide
Guide To Investigating Methylation In The Human Genome
This getting started guide offers an end-to-end introduction to the direct sequencing of DNA methylation in human genomes, from protocol design to data analysis.

Epigenetics is the study of chemical modifications that can alter phenotype without altering nucleotide sequence. One of the most well-characterised and widely studied modifications in mammalian — including human — genomes is 5mC DNA methylation, the addition of a methyl group to a cytosine nucleotide.

This getting started guide explores how researchers can sequence epigenetic modifications directly from native DNA molecules — without PCR or additional library preparation steps — to better understand how methylation influences phenotype and regulates gene expression.

In this guide, you will:

  • Learn how direct DNA sequencing can support the analysis of epigenetic modifications

  • Explore considerations for selecting the right tools and kits for your experimental goals

  • Review real-world case studies demonstrating how scientists are examining aberrant methylation in gene promoters and its potential association with disease

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