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.

引用

页数：13

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