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Epigenetics and methylation analysis

Directly detect DNA and RNA methylation

Epigenetics is crucial for regulating gene expression and is linked to various diseases, including cancer. Legacy sequencing methods require PCR, which often removes base modifications and involves complex library preparation steps that damage nucleic acids. However, Oxford Nanopore sequencing preserves these modifications and directly sequences them without extra steps, providing a simple workflow for epigenetic research. Long-range epigenetic modifications, structural variants (SVs), single nucleotide variants (SNVs), and repeats can be identified and phased — in one go. Furthermore, open chromatin regions and base modifications can also be detected.

Using Oxford Nanopore sequencing, researchers have directly identified DNA and RNA base modifications at single-nucleotide resolution, including m6A in RNA, and 5mC, 5hmC, and 6mA in DNA, and generated comprehensive methylome profiling of all 28 million CpG sites in the human genome. Oxford Nanopore technology generates reads of unrestricted length, which preserves the methylation context over large genomic distances and on individual DNA strands. This is particularly useful for identifying differentially methylated regions (DMRs), allowing an overarching view of methylation patterns across entire complex regions.

Direct DNA and RNA sequencing for methylation analysis with Oxford Nanopore sequencing

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