迈向一个开放的分析生态系统,用于Plasmodium的基因组流行病学
Shazia Ruybal-Pesántez1,2, Jorge Amaya-Romero3, Sophie Bérubé4
1MRC Centre for Global Infectious Disease Analysis, School of Public Health, Imperial College London, UK.
medRxiv : the preprint server for health sciences
|April 16, 2025
概括
基因组数据提供了疟疾洞察力,但将其转化为控制计划是困难的. 血基因组流行病学网络在PGEforge上开发了标准化的工作流程和资源,以弥合这一差距.
科学领域:
- 基因组流行病学 基因组流行病学
- 生物信息学是一种生物信息学.
- 控制疟疾 控制疟疾
背景情况:
- 在等离子体测序和生物信息学方面的进步提供了宝贵的疟疾流行病学见解.
- 将基因组数据转化为决策者和国家疟疾控制计划的可操作信息面临重大挑战.
- 障碍阻碍了将基因组学进步整合到功能数据分析生态系统中,以获得标准化,可解释的结果.
研究的目的:
- 解决将Plasmodium基因组数据转化为可用于疟疾控制的可操作信息的挑战.
- 确定可用的分析工具,评估软件标准,改进文档,并概述基因组数据分析的工作流程.
- 建立一个社区资源,用于疟疾基因组数据分析.
主要方法:
- 在复制性,可访问性,文档和互操作性标准黑卡通 (RADISH23) 中召集了来自15个机构的18名专家.
- 确定了8个基因组数据使用案例,并将其发展为分析工作流.
- 绘制了40个与工作流功能对比的Plasmodium基因组分析工具,优先考虑22个软件标准评估.
- 开发了评估软件标准的客观标准,并为10种工具创建了教程.
主要成果:
- 确定了8个基因组数据使用案例,并将其发展为模块化分析工作流.
- 制定了一套评估软件标准的客观标准.
- 确定了40种Plasmodium基因组分析工具,其中22种优先进行评估.
- 10个工具收到了额外的教程,其中包含可重复代码和共享数据集.
- PGEforge (mrc-ide.github.io/PGEforge) 作为疟疾基因组数据分析资源的中央,开放的存储库.
结论:
- 标准化工作流程和客观评估标准对于将Plasmodium基因组数据转化为疟疾控制的实际工具至关重要.
- 开发的资源和PGEforge存储库促进了基因组数据分析的模块化方法,支持国家疟疾控制计划.
- 通过PGEforge持续的社区参与和资源共享对于推动疟疾基因组流行病学的发展至关重要.
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