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在体内突变发生的全基因组直接量化,使用高精度的配对和互补共识测序

Xinyue You¹, Yiyi Cao¹, Takayoshi Suzuki²

¹School of Public Health, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China.

Nucleic acids research

|October 23, 2023

概括

配对结尾和互补共识测序 (PECC-Seq) 提供了高精度的全基因组体质突变检测. 这种方法可以识别新的DNA病变和人工物,从而能够对体内突变发生和突变性测试进行敏感的量化.

科学领域:

基因组学就是基因组学.
分子生物学分子生物学
毒理学毒理学毒理学

背景情况:

身体突变在癌症等疾病中至关重要.
现有的测序方法在精度和灵敏度方面存在局限性.
错误纠正下一代测序 (ecNGS) 旨在改善突变检测.

研究的目的:

引入配对和互补的共识测序 (PECC-Seq) 以实现高精度的全基因组体质突变检测.
为了表征新的DNA病变和NGS图书馆准备文物.
应用PECC-Seq来敏感量化体内突变发生和突变性测试.

主要方法:

开发和优化PECC-Seq,一个ecNGS方法.
2-aminoimidazolone病变和最终修复器件的特征.
修改图书馆准备用于酶的工件去除.
应用PECC-Seq以量化体内突变发生和确定突变特征.

主要成果:

优化的PECC-Seq实现了低于5 × 10−8.8的错误率.
该方法准确地检测出低丰度的体质突变.
在量化由阿里斯托洛希克酸I (AAI) 诱导的剂量依赖性突变发生时,PECC-Seq显示出高灵敏度.
对于各种变异原体,有明显的全基因组突变特征.

结论:

PECC-Seq是一个强大的工具,用于精确的全基因组体质突变量化.
这项技术对敏感的体内致变性检测具有前景.
了解DNA病变和文物可以提高测序的准确性.

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