TRACE:开源软件,用于通过毛细管电泳量化量化并列重复的体质变异
bioRxiv : the preprint server for biology
|February 6, 2026
概括
研究人员开发了TRACE,这是一个开源软件,用于分析人类疾病中的DNA重复不稳定性. 该工具简化了体质不稳定性 (SI) 的量化,使其广泛适用于疾病研究.
科学领域:
- 遗传学 遗传学 是一个
- 分子生物学分子生物学
- 生物信息学是一种生物信息学.
背景情况:
- 扩展的短串联DNA重复与60多种人类疾病有关.
- 这些重复的体质不稳定性 (SI) 在疾病发病过程中至关重要,特别是在亨廷顿病中.
- 目前用于定量SI的方法,如PCR和毛细管电泳,通常需要昂贵的专有软件和定制管道.
研究的目的:
- 开发可访问的开源软件,用于对体质重复不稳定性的端到端分析.
- 为从碎片分析数据中量化SI指标提供标准化和高效的工具.
- 创建一个交互式Web应用程序,以实现更广泛的用户可访问性.
主要方法:
- 开发Tandem重复分析通过毛细管电泳 (TRACE),一个开源软件.
- 创建TRACE-shiny,一个相关的互动使用的Web应用程序.
- 将TRACE输出与已发布的数据集进行比较,以验证其实用性.
主要成果:
- TRACE从原始文件处理碎片分析数据到SI指标.
- 该软件消除了对专有软件和定制管道的需求.
- 验证了TRACE在研究SI的遗传和药理学修饰物的有效性.
结论:
- TRACE提供了一个广泛可访问的开源解决方案,用于分析体质重复扩张.
- 开发的软件和网络应用程序简化了SI的量化,有助于疾病研究.
- TRACE促进了SI的先进分析,促进了对重复膨胀障碍的更广泛的科学参与.
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