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使用纳米孔测序在PCSK9基因中准确和快速检测单核酸变异

Ilaria Massaiu¹, Vincenza Valerio¹, Valentina Rusconi^1,2

¹Centro Cardiologico Monzino IRCCS, Milan, Italy.

Frontiers in medicine

|September 11, 2025

概括

牛津纳米孔测序管道准确检测单核酸变体 (SNVs) 用于基因测试. 使用SUP基调和Longshot变体调用的优化工作流显示了MINION和Flongle流细胞的高性能.

科学领域:

基因组学就是基因组学.
分子诊断学分子诊断
生物信息学是一种生物信息学.

背景情况:

基因检测对于疾病查,诊断,预后和指导药物治疗至关重要.
牛津纳米孔技术 (ONT) 提供了一个具有成本效益的长读测序平台,但其临床诊断实用性仍在评估中.
这项研究评估了纳米孔测序管道,用于在25kb的基因位点中准确检测单核酸变体 (SNV).

研究的目的:

为了评估不同的纳米孔测序管道的性能,用于SNV检测.
为临床应用确定最佳的基调模型和变量调用算法.
评估针对性基因测序的ONT平台的吞吐量和成本效益.

主要方法:

由于其对心血管的相关性, *PCSK9* 基因被用作概念证明.
通过使用各种流细胞,基调模型 (包括SUP) 和SNV调用算法 (包括Longshot) 分析了12名受试者.
桑格测序被用作验证的参考标准,以及吞吐量估计.

主要成果:

SUP基调和Longshot变体调用的组合实现了最高的SNV检测性能.
迷你流量细胞产生了完美的100%F1分数,而Flongle流量细胞显示出高精度 (98.2%±4.2%).
吞吐量分析显示,MinION和Flongle流量细胞可以处理多达96个样本进行向测序.

结论:

拟议的基于纳米孔的SNV识别工作流程对开发长时间读取的向基因面板充满希望.
这些工作流可以支持诊断和发现应用,特别是在复杂的多基因环境中,如瘤学和心脏病学.
ONT技术为临床遗传变异检测提供了可行且具有成本效益的解决方案.

关键词:

在PCSK9中心血管疾病心血管疾病纳米孔测序的测序单个核酸变异的变化第三代测序系统是第三代测序系统.变量调用变量调用

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