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Updated: Apr 30, 2026

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一个实验室适应的动态质量控制框架在固体瘤中减少了>90%的向捕获测序失败:临床基因组学的可扩展解决方案

Jiang Wu¹, Jie Zhao¹, Xiaofeng Wang¹

¹The Center for Clinical Molecular Medical Detection, Innovative and Translational Laboratory of Molecular Diagnostics, Laboratory Medicine Center, The First Affiliated Hospital of Chongqing Medical University, Chongqing, China.

The Journal of molecular diagnostics : JMD

|February 27, 2026

概括

通过新的动态质量控制 (QC) 框架,减少了固体瘤向测序中的高失败率. 这种适应性质量控制方法提高了临床样本下一代测序的成功率,并降低了成本.

科学领域:

基因组医学是基因组医学.
分子诊断学分子诊断学
生物信息学是一种生物信息学.

背景情况:

固体瘤的有针对性的捕获测序,特别是来自固定在甲中的,嵌入在中的样本,面临高失败率,限制了临床效用.
目前的湿实验室质量控制 (QC) 使用不适合不同临床样品类型的静态值,导致测序失败.

研究的目的:

开发和验证一个实验室适应性的动态QC框架,用于下一代临床瘤样本的测序.
通过实施特定样本的质量控制策略来降低测序失败率和相关成本.

主要方法:

从1146个瘤样本中对QC参数的回顾性分析确定了测序失败的关键预测因素.
开发一个动态的质量控制框架,根据特定样本的指标调整湿实验室的工作流程.
在2687个连续样本中对动态质量控制框架的前性验证.

主要成果:

确定了五个独立的失败预测因素:总DNA量,核酸质量,DNA输入,前图书馆总DNA和前图书馆输入.
展望验证显示,测序失败率减少了90%以上,从4.2%降至0.3%.
动态质量控制框架将每样预计成本降低了257元人民币,每年节省超过23万元人民币.

结论:

一个动态的,样本特定的质量控制框架为异质的临床样本提供了可扩展和成本效益的解决方案.
这种方法代表了湿实验室QC的范式转变,在临床环境中显著提高了下一代测序成功率.

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