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

被引：17
作者：
Lau, Billy T. [1 ]
Almeda, Alison [1 ]
Schauer, Marie [1 ]
McNamara, Madeline [1 ]
Bai, Xiangqi [1 ]
Meng, Qingxi [2 ]
Partha, Mira [2 ]
Grimes, Susan M. [1 ]
Lee, HoJoon [1 ]
Heestand, Gregory M. [1 ]
Ji, Hanlee P. [1 ,2 ]
机构：
[1] Stanford Sch Med, Dept Med, Div Oncol, Stanford, CA 94305 USA
[2] Stanford Univ, Dept Elect Engn, Stanford, CA 94305 USA
来源：
GENOME MEDICINE | 2023年 / 15卷 / 01期
关键词：
Methylation; Single-molecule sequencing; Nanopore; Cell-free DNA; GENE BODY METHYLATION; EXPRESSION; TARGET;
D O I：
10.1186/s13073-023-01178-3
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
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.
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页数：13
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