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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