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一个创新的全尺寸致病双重重复变异精确检测系统,基于下一代测序

Li-Li Zhang¹, Zhe Wang¹, Ying Zhou¹

¹Shanghai Tissuebank Biotechnology Co., Ltd., Shanghai, China.

Experimental biology and medicine (Maywood, N.J.)

|July 28, 2025

概括

一个名为ITDFinder的新系统,使用下一代测序,准确检测急性髓性白血病 (AML) 中的内部并列重复 (ITD) 突变. 该工具可以改善ITD突变评估和患者预后,节省大量的工作量.

科学领域:

遗传学和基因组学遗传学和基因组学
血液学血液学血液学
生物信息学是一种生物信息学.

背景情况:

准确识别内部串联重复 (ITD) 突变对于急性髓性白血病 (AML) 的诊断和预后至关重要.
现有的ITD突变检测工具的范围和大小范围有限.
需要一个可靠和全面的系统来对AML进行ITD突变评估.

研究的目的:

开发和验证一种基于下一代测序 (NGS) 的新型系统,用于准确检测AML中的ITD突变.
建立一个能够在各种尺寸范围内评估ITD突变的系统.
通过增强ITD突变检测,改善AML患者的临床评估和预后.

主要方法:

开发基于NGS数据软剪辑分析的短读并联重复识别系统.
通过调整参考值来确定可与毛细管电泳相比较的较低检测极限.
使用模拟和临床数据验证该系统与毛细管电泳的一致性及其适用于其他协同重复突变的有效性.

主要成果:

一个基于NGS的创新系统ITDFinder被开发用于准确的ITD突变检测,其下限为4%在1000X测序深度.
在各种ITD长度的ITDFinder中,ITDFinder与毛细管电泳学 (平均差异: -0.0085) 显示出良好的一致性.
对1032例AML的临床验证显示,ITDFinder和毛细血管电泳之间的一致率为96.5%;模拟表明可用于BCOR-ITD和KMT2A-PTD突变.

结论:

开发的ITDFinder系统准确检测小到大尺寸的ITD和其他病原性并联重复突变.
这种创新系统为准确的ITD突变临床评估提供了显著的潜力,改善了AML患者的预后.
预计ITDFinder将节省与ITD突变检测相关的工作负载的96.3%.

关键词:

急性骨髓性白血病 (AML) 是一种急性骨髓性白血病.内部双重复制是双重复制.突变检测检测突变检测这是下一代测序.预后预后预后

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