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SnakeBITE:一种基于SNAKEmake的接口,用于第三代测序数据分析
Andrea Bimbocci1, Marta Baragli1, Alberto Magi1
1Department of Information Engineering, University of Florence, 50139 Florence, Italy.
Biomolecules
|February 27, 2026
概括
SnakeBITE为研究人员简化了第三代测序 (TGS) 数据分析. 这种用户友好的工具可以在没有编码的情况下在本地执行牛津纳米孔技术 (ONT) 基因组管道,从而提高可访问性.
科学领域:
- 生物信息学和计算生物学
- 基因组学和奥米学数据分析 数据分析
- 生物信息学工具开发开发
背景情况:
- 计算管道对于分析omics数据至关重要,特别是来自下一代测序 (NGS) 的数据.
- 分析第三代测序 (TGS) 数据,如牛津纳米孔技术 (ONT),由于其复杂性,提出了独特的挑战.
- 现有的工具通常专注于NGS数据,并且缺乏TGS的适应性,为非程序员创造了一个障碍.
研究的目的:
- 为第三代测序 (TGS) 基因组数据分析开发一个用户友好的模块化管道构建器.
- 让研究人员,包括临床医生和生物学家,在没有编程专业知识的情况下,在本地执行TGS工作流.
- 为整个牛津纳米孔技术 (ONT) 数据分析管道提供可定制的解决方案.
主要方法:
- 基于Snakemake工作流程管理器的管道构建器SnakeBITE的开发.
- 集成一个基于Shiny的交互式图形用户界面 (GUI).
- 实施对全ONT基因组学数据分析工作流程的支持:基调调用,对齐,变异调用和注释.
主要成果:
- SnakeBITE成功地实现了TGS数据分析工作流程的本地配置和执行.
- 该工具有效地处理ONT数据分析的各个阶段,从基础调用到注释.
- 证明了TGS数据分析的用户友好性和高度可定制性.
结论:
- SnakeBITE为第三代测序 (TGS) 数据分析提供了一个可访问和高效的解决方案.
- 该工具弥合了复杂的基因组数据分析和研究人员的用户可访问性之间的差距.
- SnakeBITE使没有编程专业知识的用户能够进行全面的ONT数据分析.
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