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来自Illumina双色化学的系统文物混了临床面板中的变体识别和可操作性

Hu Jin, Michail Andreopoulos, Vinayak V Viswanadham

medRxiv : the preprint server for health sciences

|November 24, 2025

概括

新的Illumina测序平台在癌症基因组测试中创建T>G人工物,导致错误的病原体变体和膨胀的瘤突变负担. 准确的临床解释需要考虑这些测序工件.

科学领域:

基因组学就是基因组学.
癌症基因组学癌症基因组学
分子生物学分子生物学

背景情况:

在临床癌症基因组学中,Illumina短读测序至关重要.
目标面板被广泛用于检测可操作的变体.
较新的Illumina平台使用双色化学来实现更快的测序.

研究的目的:

系统地评估双色化学对向癌症小组变异鉴定的影响.
为了识别和描述由新的Illumina测序平台产生的文物.

主要方法:

在Illumina两色平台上生成的向癌症面板测序数据的分析.
识别反复出现的工件,特别是T>G替换.
在特定的三核酸环境和低变异性等位基因分数中对人工物发生的评估.

主要成果:

双色 Illumina 平台在低变异性等位基因分数下产生反复的 T>G 工件.
文物主要发生在特定的三核酸环境中.
这些人工物可以导致TP53和KIT等基因中的假病原体变异,并增加瘤突变负担.

结论:

两色测序化学引入了可能危及临床癌症基因组学的文物.
对目标面板数据的准确解释需要对这些T>G文物进行核算.
解决这些文物对于可靠的变种检测和免疫治疗资格评估至关重要.

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