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

Single-molecule methylation profiles of cell-free DNA in cancer with nanopore sequencing.
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DOI:
10.1186/s13073-023-01178-3
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发表时间:
2023-05-03
期刊:
影响因子:
12.3
通讯作者:
--
中科院分区:
生物学1区
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--
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无细胞DNA(cfDNA)的表观遗传表征是用于检测和表征疾病如癌症的新兴方法。我们开发了一种使用基于纳米孔的单分子测序来测量cfDNA甲基化组的策略。这种方法为来自癌症患者的单个cfDNA样品产生了高达2亿个读数,比现有的纳米孔测序方法提高了一个数量级。我们开发了一种单分子分类器,以确定单个读数是否来源于肿瘤或免疫细胞。利用匹配的肿瘤和免疫细胞的甲基化组,我们表征了癌症患者的cfDNA甲基化组,用于治疗期间的纵向监测。在线版本包含补充材料,可通过10.1186/s13073-023-01178-3获得。
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. The online version contains supplementary material available at 10.1186/s13073-023-01178-3.
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发表时间: 2016-07-08
影响因子: 14.9
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