Single-molecule methylation profiles of cell-free DNA in cancer with nanopore sequencing. Genome medicine Lau, B. T., Almeda, A., Schauer, M., McNamara, M., Bai, X., Meng, Q., Partha, M., Grimes, S. M., Lee, H., Heestand, G. M., Ji, H. P. 2023; 15 (1): 33


Epigenetic characterization of cell-free DNA (cfDNA) is an emerging approach for detecting and characterizing diseases such as cancer. We developed a strategy using nanopore-based single-molecule sequencing to measure cfDNA methylomes. This approach generated up to 200 million reads for a single cfDNA sample from cancer patients, an order of magnitude improvement over existing nanopore sequencing methods. We developed a single-molecule classifier to determine whether individual reads originated from a tumor or immune cells. Leveraging methylomes of matched tumors and immune cells, we characterized cfDNA methylomes of cancer patients for longitudinal monitoring during treatment.

View details for DOI 10.1186/s13073-023-01178-3

View details for PubMedID 37138315

View details for PubMedCentralID 1283450