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在“我们所有人”研究工作平台中为大规模基因组数据分析实施一种培训资源。

Implementing a training resource for large-scale genomic data analysis in the All of Us Researcher Workbench.

作者信息

Baker Jasmine, Stricker Erik, Coleman Julie, Ketkar Shamika, Tan Taotao, Butler Ashley M, Williams LaTerrica, Hammonds-Odie Latanya, Murray Debra, Lee Brendan, Worley Kim C, Atkinson Elizabeth G

机构信息

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Department of Integrative Physiology, Baylor College of Medicine, Houston, TX, USA.

出版信息

Am J Hum Genet. 2025 Jul 15. doi: 10.1016/j.ajhg.2025.06.018.

DOI:10.1016/j.ajhg.2025.06.018
PMID:40701146
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12320718/
Abstract

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.

摘要

在基因组研究中代表性不足以及获得计算培训的机会有限,给许多试图分析大规模基因数据集的研究人员造成了障碍。“我们所有人”研究计划提供了一个前所未有的机会来弥补这些差距,它提供了来自广泛参与者的基因组数据,但其影响取决于为研究人员提供有效使用这些数据所需的技能。贝勒医学院的“我们所有人”生物医学研究人员(BR)学者计划旨在通过“我们所有人遗传学研究之夜”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。为期一年的计划始于教师峰会,这是一个面对面的计算训练营,通过基于云的研究环境向学者介绍使用“我们所有人”数据集的基础技能。基因组学教程侧重于全基因组关联研究(GWAS),利用Jupyter Notebook和Hail计算框架提供一种可访问且可扩展的大规模数据分析方法。学者们参与涵盖数据准备、质量控制、关联测试和结果解释的实践练习。到峰会结束时,参与者将成功进行一次GWAS,可视化关键发现,并对计算资源管理有信心。该计划通过为来自各种背景的早期职业研究人员提供分析“我们所有人”数据的工具和知识,扩大了基因组研究的参与度。通过降低准入门槛并促进对代表性人群的研究,该计划促进了精准医学的创新,并推动了基因组研究的公平性。

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本文引用的文献

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Development and evaluation of a training curriculum to engage researchers on accessing and analyzing the All of Us data.开发并评估一项培训课程,以使研究人员能够获取和分析“我们所有人”计划的数据。
J Am Med Inform Assoc. 2024 Dec 1;31(12):2857-2868. doi: 10.1093/jamia/ocae240.
2
The goldmine of GWAS summary statistics: a systematic review of methods and tools.全基因组关联研究汇总统计数据的宝库:方法与工具的系统综述
BioData Min. 2024 Sep 5;17(1):31. doi: 10.1186/s13040-024-00385-x.
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Precision public health in the era of genomics and big data.
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Nat Med. 2024 Jul;30(7):1865-1873. doi: 10.1038/s41591-024-03098-0. Epub 2024 Jul 11.
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Precision Medicine-Are We There Yet? A Narrative Review of Precision Medicine's Applicability in Primary Care.精准医学——我们做到了吗?对精准医学在初级保健中适用性的叙述性综述。
J Pers Med. 2024 Apr 15;14(4):418. doi: 10.3390/jpm14040418.
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The All of Us Research Program is an opportunity to enhance the diversity of US biomedical research.“我们所有人”研究计划是一个增强美国生物医学研究多样性的契机。
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