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科学领域:

  • 分子诊断学 分子诊断学
  • 基因组医学是基因组医学.
  • 临床病理学 临床病理学

背景情况:

  • RNA测序对于检测临床实验室中的融合基因等遗传改变至关重要.
  • 美国病理学家学院 (CAP) 为RNA测序试验提供了能力测试 (PT).

研究的目的:

  • 评估RNA测序中的实验室性能,以检测融合基因,内基因重组和外基因跳跃事件.
  • 分析CAP PT数据从2018-A到2021-B,以评估试验准确性和实验室实践.

主要方法:

  • 分析了参与CAP RNA测序PT计划的153个实验室的结果.
  • 对24个具有22个不同的工程融合转录的PT标本进行评估.
  • 评估正确的融合事件识别,性能变量和实验室实践.

主要成果:

  • 融合基因检测的总体灵敏度为95.5%.
  • 融合基因的假阴性率为3.6%,内基因重组/外因子跳转事件为18.3%.
  • 报告的假阳性结果很少,可能是由于分析前/分析后的错误;没有与检测结果相关的实践特征.

结论:

  • 临床RNA测序显示了融合基因检测的高灵敏度和特异性.
  • 实验室的表现在不同的方法中是一致的.
  • 与融合基因相比,内基因重组和外基因跳转事件检测显示出更高的假阴性率.