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Single-molecule methylation profiles of cell-free DNA in cancer with nanopore sequencing

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 cfD...

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Detalles Bibliográficos
Autores principales: Lau, Billy T., Almeda, Alison, Schauer, Marie, McNamara, Madeline, Bai, Xiangqi, Meng, Qingxi, Partha, Mira, Grimes, Susan M., Lee, HoJoon, Heestand, Gregory M., Ji, Hanlee P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10155347/
https://www.ncbi.nlm.nih.gov/pubmed/37138315
http://dx.doi.org/10.1186/s13073-023-01178-3
Descripción
Sumario: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. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s13073-023-01178-3.