提高NHGRI资源生态系统的公平性和可持续性
Larry Babb1, Carol Bult2, Vincent J Carey3
1Broad Institute of MIT and Harvard, Cambridge, MA.
ArXiv
|September 2, 2025
概括
基因组资源正在通过合作研讨会提高公平性和可持续性. 在数据策划,处理,元数据和变异标识器方面面临的关键挑战被解决,以开发最佳实践.
科学领域:
- 基因组学
- 生物信息学
- 数据科学
背景情况:
- 国家基因组研究所资助的基因组资源在2024年进行了自我评估工具 (SAT) 评估.
- SAT评估了FAIR (可查找,可访问,可互操作,可重复使用) 原则的应用和资源可持续性.
- 调查问卷和采访的见解突出了挑战和需要改进的领域.
研究的目的:
- 确定NHGRI基因组资源的挑战并制定最佳实践.
- 促进基因组社区的合作,提高公平性和可持续性.
- 通过社区参与来确定未来研讨会的重点领域.
主要方法:
- 采用自我评估工具 (SAT) 和个人采访来收集数据.
- 一个组织委员会通过网络研讨会让社区参与进来,
- 一个为期两天的研讨会 (2025年3月3日至4日) 专注于四个主要类别:变种识别器,数据处理,数据策划和元数据工具.
主要成果:
- 在元数据标准化,可扩展数据策划,变种标识符一致性和数据处理工作流程方面发现了挑战.
- 制定了九项核心建议,包括提高透明度,开发实体图表工具,注释工具和使用标准分类.
- 提出了AI/ML方法来扩大治疗和独立影响评估.
结论:
- 共同努力和研讨会对于推进基因组资源的FAIR原则至关重要.
- 解决数据策划,处理,元数据和变种标识器方面的挑战将提高数据共享和可重复性.
- 目前正在进行的倡议和未来的研讨会旨在促进持续的合作和实施FAIR标准.
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