在我们所有的研究者工作台中实现大规模基因组数据分析的培训资源。

IF 8.1 1区 生物学 Q1 GENETICS & HEREDITY
American journal of human genetics Pub Date : 2025-09-04 Epub Date: 2025-07-22 DOI:10.1016/j.ajhg.2025.06.018
Jasmine Baker, Erik Stricker, Julie Coleman, Shamika Ketkar, Taotao Tan, Ashley M Butler, LaTerrica Williams, Latanya Hammonds-Odie, Debra Murray, Brendan Lee, Kim C Worley, Elizabeth G Atkinson
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引用次数: 0

摘要

在基因组研究中缺乏代表性和有限的获得计算训练的机会为许多寻求分析大规模遗传数据集的研究人员创造了障碍。“我们所有人”研究计划提供了一个前所未有的机会,通过提供来自广泛参与者的基因组数据来解决这些差距,但其影响取决于使研究人员具备有效使用这些数据的必要技能。贝勒医学院的“我们所有人的生物医学研究员(BR)学者计划”旨在通过“我们所有人的夜晚与遗传学研究计划”为早期职业研究人员提供计算基因组学的实践培训,从而打破这些障碍。这个为期一年的项目从教师峰会开始,这是一个面对面的计算训练营,向学者们介绍了通过基于云的研究环境使用我们所有人数据集的基本技能。基因组学教程侧重于全基因组关联研究(GWASs),利用Jupyter notebook和Hail计算框架为大规模数据分析提供可访问和可扩展的方法。学者从事动手练习涵盖数据准备,质量控制,关联测试和结果解释。在峰会结束时,与会者将成功地进行GWAS,可视化关键发现,并获得对计算资源管理的信心。该计划通过为来自不同背景的早期职业研究人员提供工具和知识来分析我们所有人的数据,从而扩大了基因组研究的范围。通过降低进入门槛和促进代表性人群的研究,该项目促进了精准医学的创新,并促进了基因组研究的公平性。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Implementing a training resource for large-scale genomic data analysis in the All of Us Researcher Workbench.

A lack of representation in genomic research and limited access to computational training create barriers for many researchers seeking to analyze large-scale genetic datasets. The All of Us Research Program provides an unprecedented opportunity to address these gaps by offering genomic data from a broad range of participants, but its impact depends on equipping researchers with the necessary skills to use it effectively. The All of Us Biomedical Researcher (BR) Scholars Program at Baylor College of Medicine aims to break down these barriers by providing early-career researchers with hands-on training in computational genomics through the All of Us Evenings with Genetics Research Program. The year-long program begins with the faculty summit, an in-person computational boot camp that introduces scholars to foundational skills for using the All of Us dataset via a cloud-based research environment. The genomics tutorials focus on genome-wide association studies (GWASs), utilizing Jupyter Notebooks and the Hail computing framework to provide an accessible and scalable approach to large-scale data analysis. Scholars engage in hands-on exercises covering data preparation, quality control, association testing, and result interpretation. By the end of the summit, participants will have successfully conducted a GWAS, visualized key findings, and gained confidence in computational resource management. This initiative expands access to genomic research by equipping early-career researchers from a variety of backgrounds with the tools and knowledge to analyze All of Us data. By lowering barriers to entry and promoting the study of representative populations, the program fosters innovation in precision medicine and advances equity in genomic research.

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来源期刊
CiteScore
14.70
自引率
4.10%
发文量
185
审稿时长
1 months
期刊介绍: The American Journal of Human Genetics (AJHG) is a monthly journal published by Cell Press, chosen by The American Society of Human Genetics (ASHG) as its premier publication starting from January 2008. AJHG represents Cell Press's first society-owned journal, and both ASHG and Cell Press anticipate significant synergies between AJHG content and that of other Cell Press titles.
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