WeavePop:一种生物信息工作流程,用于探索和分析真核生物种群的基因组变异
bioRxiv : the preprint server for biology
|September 2, 2025
概括
我们开发了WeavePop, 一种可复制的工作流程, 这种工具简化了变体的发现,并将结果集成到可探索的数据库中.
科学领域:
- 基因组学
- 生物信息学
- 计算生物学
背景情况:
- 从短读测序数据进行基因组变异分析是复杂且难以复制的.
- 现有的方法需要多个计算步骤和工具,阻碍跨项目的一致性.
研究的目的:
- 开发一种可复制和可扩展的工作流程,用于分析真核单体生物的基因组变异.
- 简化在一个群体内的小变异和副本数变异的识别和探索.
主要方法:
- 开发了WeavePop,一个用于基因组变异分析的Snakemake工作流.
- 工作流包括样本对齐,基于参考的组装和注释,以及变体识别 (小变体和副本数变体).
- 将结果整合到一个可共享的数据库中,
主要成果:
- WeavePop可以进行可复制和可扩展的基因组变异分析.
- 该工作流成功地在大量*Cryptococcus neoformans*分离物中发现了小变异和副本数变异.
- 集成的数据库和网页界面可以轻松地探索人口层面的变体.
结论:
- WeavePop提供了一种简单而强大的解决方案,用于在单体真核生物中发现基因组变异.
- 该工作流提高了变种分析的可复制性和可访问性,有助于群体遗传学研究.
- 这种工具简化了复杂的基因组分析,使研究人员更容易发现变异.
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