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基于探针的元基因组病原体检测:提高实验室对复杂诊断的能力

Rita Ferreira¹, Luís Coelho¹, João Dourado Santos¹

¹Genomics and Bioinformatics Unit, Department of Infectious Diseases, National Institute of Health Doutor Ricardo Jorge (INSA), Lisbon, Portugal.

Frontiers in microbiology

|October 30, 2025

概括

这项研究评估了基于探针的病原体检测面板,用于复杂的诊断. 在INSAFLU-TELEVIR ((+) 管道中,病原体检测率得到了提高,特别是细菌和病毒,有助于临床决策.

科学领域:

临床微生物学临床微生物学
下一代测序 (NGS) 是指下一代的测序.
生物信息学是一种生物信息学.

背景情况:

短枪元基因组学面临的挑战是微生物DNA比率低,计算要求高.
基于探针的病原体丰富与NGS相结合,为复杂的诊断提供了一个有希望的替代方案.
呼吸道和尿道病原体识别面板 (RPIP和UPIP) 旨在检测病原体.

研究的目的:

用不同的临床样本评估RPIP和UPIP的联合检测性能.
为了比较Illumina的Explify解决方案与扩展的元基因组学管道 (INSaFLU-TELEVIR(+)) 的性能.
为复杂的传染病病例验证一种新的诊断方法.

主要方法:

使用了来自葡萄牙国家参考实验室的99个临床样本,跨越15个不同的矩阵.
采用了两个基于Illumina探针的面板 (RPIP和UPIP) 来进行病原体丰富.
使用Illumina的Explify解决方案和扩展的INSaFLU-TELEVIR ((+) 甲基因组学管道分析数据,包括分类学分类和读取映射.

主要成果:

在INSaFLU-TELEVIR(+) 管道中,PCR阳性标的总检测率达到79.8% (91/114),比Explify的73.7% (84/114) 更好.
细菌 (54.3%至65.7%) 和病毒 (85.3%至89.7%) 的检测率随着管道的延长而增加.
该工作流显示,对于具有高qPCR Ct值 (≥30) 的样本,工作流具有很高的有效性,检测到71.8%的目标.

结论:

基于探针的面板和INSaFLU-TELEVIR ((+) 管道的联合使用可以在复杂的临床样本中提高病原体检测.
这种经过验证的方法代表了葡萄牙国家卫生研究院在支持临床医生方面取得的重大进展.
改进的诊断能力可以导致更明智的临床决策和更好的传染病管理结果.

关键词:

在INSAFLU-TELEVIR电视节目中.生物信息学分析分析 mNGSS 在线观看转基因组学是指转基因组学.这是下一代测序.病原体检测检测病原体的检测

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