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GENOMICON-Seq可实现对安普利康和外基因组测序进行现实的模拟,用于低频突变检测

Milan S Stosic^1,2, Jean-Marc Costanzi³, Ole Herman Ambur⁴

¹Department of Life Sciences and Health, Faculty of Health Sciences, Oslo Metropolitan University-OsloMet, Oslo, Norway. milan.stosic@ahus.no.

Scientific reports

|July 2, 2025

概括

GENOMICON-Seq是一个新的模拟工具,可以对工作流程进行测序模型,以准确检测低频突变. 这有助于研究人员通过减少基因组数据分析中的错误来了解病毒进化和癌症.

科学领域:

基因组学就是基因组学.
生物信息学是一种生物信息学.
计算生物学计算生物学

背景情况:

准确检测低频突变对于研究病毒进化和人类瘤发生至关重要.
来自图书馆准备和测序的技术文物往往阻碍了这些突变的精确识别.

研究的目的:

推出GENOMICON-Seq,这是一个全面的模拟工具,用于对安普利康和整个外因组测序 (WES) 工作流的端到端建模.
通过区分真实突变和技术错误,使研究人员能够识别检测极限并优化变体调用值.

主要方法:

GENOMICON-Seq模拟了现实的生物突变 (例如,APOBEC3编辑,COSMIC签名) 和技术噪音,包括PCR错误,探针捕获丰富和Illumina测序偏差.
该工具追踪每个突变的起源,允许精确评估检测能力.
进行了涉及人类乳头瘤病毒 (HPV) 片序列和WES模拟的案例研究,以证明该工具的实用性.

主要成果:

模拟突出了聚合酶忠实度,病毒拷贝数和读取深度对检测HPV amplicon测序中低频突变的影响.
WES模拟揭示了捕获偏差和不同的基因频率如何影响体质突变调用.
该工具有效地区分真实突变和测序错误.

结论:

GENOMICON-Seq为评估新的测序协议和变异调用器提供了一个灵活和可重复的框架.
它有助于完善基因组数据分析管道,从而最大限度地减少实验室的试错.
该工具支持提高检测低频突变的准确性,用于病毒学和瘤学研究.

关键词:

安普利康测序的测序方法宿主内部单核酸变体 (iSNVs) 是一种单核酸变体.模拟模拟是为了模拟.单基替代 (SBS) 突变特征的突变特征身体突变是一种体质突变.整体外基因组测序 (WES) 测序

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