Oxford Nanopore Technologies has announced a new collaboration with UK Biobank to create the world’s first large-scale, comprehensive epigenetic dataset. The project will use Oxford Nanopore’s information-rich DNA/RNA sequencing technology to map the epigenome of 50,000 participant samples to gain crucial insights into disease mechanisms, with the aim of improving patient outcomes. These publicly available data will provide a unique resource for the scientific community and provide new opportunities to advance the understanding of genomics.
Epigenetics is the study of how external factors, including lifestyle choices like smoking and diet, can change an individual’s DNA. Epigenetic changes play a critical role in gene expression and influence the risk of diseases such as cancer and neurodegeneration. For example, research shows that epigenetics is key to discovering how tumors grow and resist treatments.
In one study, single-cell epigenetic profiling provided a detailed view of the diversity of cancer cells within a single tumor, helping pave the way for personalized cancer therapies that could overcome treatment resistance. Sequencing by Oxford Nanopore provides an overview of 98% of epigenetic methylation markers in the genome, compared to only 3% with DNA microarrays. Methylation is an example of epigenetics which involves adding chemical (methyl) groups to DNA at specific locations without changing the underlying structure of the DNA.
Oxford Nanopore is unique in its ability to sequence “canonical” C, A, G, T bases as well as methylation markers including 5mC, 5hmC, 6mA and all contexts. This unprecedented level of detail is possible thanks to Oxford Nanopore’s direct sequencing of native DNA/RNA, enabling richer information that was previously out of reach. Oxford Nanopore sequencing requires no chemical (bisulfite) conversion to detect methylation, preserving all methylated bases in nanopore genome sequencing.
Therefore, long-range epigenetic modifications, structural variants (SVs), single nucleotide polymorphisms (SNPs), and repeats can all be identified and phased in a single dataset. This collaboration aims to capture the full spectrum of the epigenome, or epigenetic markers across the genome, in a rapidly evolving area of biomedical research with considerable potential to improve lives. By capturing 98% of the epigenome, researchers will be able to better understand the causes of disease development and progression, leading to the development of targeted treatments for conditions such as cancer, neurological diseases and diseases. rare.
Importantly, this dataset will focus on predominantly healthy participants, providing an invaluable baseline for disease studies and supporting the creation of population-level risk profiles, which will make it possible to adapt health care interventions in the future. The initiative could also pave the way for new clinical applications, including disease risk screening and more accurate diagnostics to support early-stage disease detection, providing hope for interventions well before symptoms appear classics. Using this data, doctors may one day be able to tailor treatments to patients’ unique epigenetic profiles, leading to improved efficiency and personalization of healthcare.
Using this data, doctors will one day be able to tailor treatments to patients’ unique epigenetic profiles, enabling more effective and personalized healthcare.
