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Updated: Sep 11, 2025

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在双重测序数据中改进突变检测,采用样本特定错误配置文件

Yuhe Cheng^1,2,3, Shuvro P Nandi^1,2,3, Luka Culibrk⁴

¹Department of Cellular and Molecular Medicine, UC San Diego, La Jolla, CA, 92093, USA.

bioRxiv : the preprint server for biology

|August 12, 2025

概括

杜普卡勒增强了双重测序中的体质突变检测. 这种新的变异呼叫器可以提高不同样本和条件的灵敏度和可比性.

科学领域:

基因组学就是基因组学.
计算生物学计算生物学
分子生物学分子生物学

背景情况:

双重测序为罕见的体质突变检测提供了高准确度.
由于协议特定的启发式,现有的变异调用器在灵敏度,可重现性和交叉研究可比性方面面临限制.

研究的目的:

介绍DupCaller,一个用于双重测序数据的新型概率变异调用器.
改进罕见的体突变的检测,包括单基替代 (SBSs) 和indels.

主要方法:

开发DupCaller,一个概率变体调用器.
建立特定样本的错误档案.
对于突变检测的链意识统计模型的应用.

主要成果:

杜普卡勒在合成数据集上发现了1.25倍多的SBS和1.41倍多的INDEL,比使用最先进的方法对合成数据集的精度相似或更高.
在阿里斯托洛希酸处理的细胞系中,DupCaller检测到3.5倍多的SBS和2.8倍多的indels,恢复了预期的突变特征.
在93个不同的组织样本中,DupCaller始终检测到1.21至2.7倍多的突变,灵敏度随样本重复率而变化.

结论:

杜普卡勒建立了一个强大的和可扩展的解决方案,用于使用双重测序对体突变进行分析.
该工具在各种生物和技术环境中展示了一致的性能增长.
DupCaller增强了突变检测,特别是在低重复样本中,其他工具可能会失败.

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