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在结肠直肠癌样本上的短读和长读测序方法的方法比较

Nikolett Szakállas^1,2, Alexandra Kalmár², Kristóf Róbert Rada²

¹Department of Biological Physics, Faculty of Science, Eötvös Loránd University, 1117 Budapest, Hungary.

International journal of molecular sciences

|September 27, 2025

概括

这项研究比较了短读Illumina和长读纳米孔测序用于结直肠癌 (CRC) 基因组学. 纳米孔测序在检测结构变异和保存表观遗传信号方面表现出色,补充了Illumina.

科学领域:

基因组测序技术基因组测序技术
癌症基因组学癌症基因组学
分子诊断学分子诊断学

背景情况:

结肠直肠癌 (CRC) 由于复杂的体质突变和结构变异,表现出显著的瘤异质性和治疗耐药性.
准确检测这些基因组改变对于理解CRC进展和开发有效治疗非常重要.

研究的目的:

为了比较分析短读Illumina和长读纳米孔测序平台对结直肠癌基因组学的性能.
评估基层指标和变异调用性能,包括结构变异 (SV) 和临床相关突变.
评估纳米孔测序对CRC中综合基因组和表观基因组分析的有用性.

主要方法:

来自各种结直肠癌样本的Illumina短读和Nanopore长读测序数据的比较分析.
评估一般测序指标 (核酸比率,匹配率,覆盖率) 和变异调用性能 (VAF,突变检测).
专注于临床相关的基因 (KRAS,BRAF,TP53,APC,PIK3CA) 和结构变异分析;评估用于表观基因组分析的PCR-free协议.

主要成果:

纳米孔测序证明了在CRC中解决大型和复杂的结构变异的卓越能力.
两个平台都显示了特定突变的独特检测概况;纳米孔测序通过PCR-free协议保留了甲基化信号.
高覆盖率的纳米孔运行和外来参考文件促进了直接比较和准确的变体评估.

结论:

短读和长读测序平台为高分辨率的癌症基因组学提供了互补的优势.
纳米孔测序对结直肠癌研究中的综合基因组和表观基因组分析非常有价值.
严格的基准测试,覆盖范围的规范化和对表观遗传忠实性的关注对于癌症基因组学中准确的变异发现至关重要.

关键词:

结肠直肠癌是什么意思这是一项比较性研究.长时间阅读序列排序.方法论方法论方法论这是下一代测序.简读序列的短阅读序列.

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