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Clin Chem：下一代测序检测体细胞变异的的定量和定性QC

2020-07-19 MedSci原创 MedSci原创

体细胞变异；定量；定性QC
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由于检测体细胞突变的新一代测序(下一代sequencing, NGS)已被广泛应用于临床，因此通过NGS检测到的整个编码区对体细胞变异进行定性和定量的QC是至关重要的。然而，目前仍缺乏具体的应用或指南

由于检测体细胞突变的新一代测序(下一代sequencing, NGS)已被广泛应用于临床，因此通过NGS检测到的整个编码区对体细胞变异进行定性和定量的QC是至关重要的。然而，目前仍缺乏具体的应用或指南，特别是对于定量QC。我们的目标是使用检测不确定电位的克隆性造血作用的案例，设计一种定量和定性质控的实用方法。利用商业参考材料和由单倍型图和癌细胞系组成的内部QC材料(IQCM)进行芯片监测。

研究结果显示，该方法有效地验证了定制的芯片NGS检测方法。所达到的准确度为99.87%，分析灵敏度为98.53%，定性精密度为100.00%，定性精密度为100.00%，检测限为1.00%。定量精度分析在较低的替代读深度下也有较高的CV百分比(R2 = 0.749 ~ 0.858)。与使用商业参考材料相比，IQCM的使用确保了每次运行成本降低了100倍以上。

本研究的方法确定了NGS用于检测CHIP的一般分析性能，并认识到了局限性，例如在较低的突变水平下精度较低。从理论上讲，该方法也可以扩展到用于检测体细胞变异的常规NGS分析。考虑到可靠的NGS结果和成本效益，我们建议在临床实验室中将IQCM用于NGS测定的QC。

原始出处：

Young Kyu Min, Young Kee Lee,Quantitative and Qualitative QC of Next-Generation Sequencing for Detecting Somatic Variants: An Example of Detecting Clonal Hematopoiesis of Indeterminate Potential

 

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    2020-09-22 minzju5063

    #下一代测序#

    0

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    2020-07-21 12498dabm77暂无昵称

    #变异#

    0

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    2020-07-21 zhouqu_8

    #体细胞#

    0

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