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MutSeqR:一种开源的R包,用于对遗传毒理学中错误纠正的下一代测序数据进行标准化分析

Annette E Dodge^1,2, Andrew Williams¹, Danielle P M LeBlanc¹

¹Environmental Health Science and Research Bureau, Health Canada, Ottawa, ON K1A 0K9, Canada.

Bioinformatics advances

|November 27, 2025

概括

MutSeqR是一个新的R包,用于分析遗传毒理学中错误纠正的下一代测序数据. 它为突变分析提供了标准化的工具,提高了突变性测试的可复制性和可比性.

科学领域:

遗传学是一个遗传学.
毒理学毒理学毒理学
生物信息学是一种生物信息学.

背景情况:

错误纠正下一代测序 (ECS) 对遗传毒理学至关重要.
缺乏标准化的生物信息工具阻碍了数据的可复制性和解释性.

研究的目的:

引入 MutSeqR,这是一个开源的 R 包,用于分析 ECS 突变数据.
提供使用ECS进行遗传毒理学研究的标准化工作流程.

主要方法:

MutSeqR提供变异过,比较突变频率分析和剂量反应评估.
包括突变频谱和克隆性分析.
使用已发表的数据集从小鼠用多环芳处理的小鼠证明.

主要成果:

MutSeqR可以在不同的ECS平台上进行可复制的分析.
促进对突变频率和剂量反应关系的比较分析.
支持研究和监管应用在突变致病性测试.

结论:

MutSeqR提高了遗传毒性评估的可靠性和一致性.
促进ECS数据分析的标准化生物信息方法.
对于遗传毒理学的研究人员和监管机构来说,这是一个有价值的工具.

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RNA-seq

RNA-seq

RNA sequencing, or RNA-Seq, is a high-throughput sequencing technology used to study the transcriptome of a cell. Transcriptomics helps to interpret the functional elements of a genome and identify the molecular constituents of an organism. Additionally, it also helps in understanding the development of an organism and the occurrence of diseases.
Before the discovery of RNA-seq, microarray-based methods and Sanger sequencing were used for transcriptome analysis. However, while microarray-based...