长期读取的全转录组测序和选择性基因组表格使得在儿科B细胞急性淋巴细胞白血病中敏感检测融合瘤基因
John Lin1, Kofi B Opoku2, Mark R Litzow3
1Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina.
The Journal of molecular diagnostics : JMD
|February 12, 2026
概括
一个新的长期读取的测序算法FUSILLI准确地检测到B-ALL.中的致癌的融合瘤基因. 它具有高灵敏度和特异性,支持其在分子诊断中的使用.
科学领域:
- 基因组学就是基因组学.
- 生物信息学是一种生物信息学.
- 在瘤学瘤学.
背景情况:
- 长期阅读的全转录组测序 (WTS) 显示出确定致癌的融合瘤基因的前景.
- 现有的融合检测算法缺乏灵敏度和可靠的参数评估,以精确诊断B细胞急性淋巴细胞白血病 (B-ALL).
研究的目的:
- 开发和评估FUSILLI (FUSions In Leukemia Long-read sequencing Investigator),这是一个新的长读融合检测算法.
- 评估FUSILLI的性能与现有的检测儿科B-ALL的融合转录的方法相比.
主要方法:
- 使用来自51个高深度和68个低深度儿科B-ALL样本的纳米孔WTS数据对FUSILLI的评估.
- 与FusionSeeker,JAFFAL和LongGF算法相比,FUSILLI的灵敏度和特异性的比较.
- 计算下方采样分析,以确定足够的测序深度,以可靠地检测聚变.
主要成果:
- 在高深度样本中,FUSILLI表现出比现有方法 (0.63-0.70) 更高的灵敏度 (0.81),具有高特异性 (0.92).
- 在较低的测序深度下,与其他调用器 (0.09-0.16) 相比,FUSILLI 保持了更高的灵敏度 (0.27).
- 确定了1000万个读数足以对B-ALL融合进行敏感检测.
结论:
- 在适度的测序深度下,FUSILLI在检测B-ALL聚变方面实现了高灵敏度.
- 该算法支持纳米孔WTS的实施,作为一个具有成本效益和可访问的儿童B-ALL分子诊断平台.
- 在诊断其他由融合驱动的癌症方面,FUSILLI具有更广泛的应用潜力.
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