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加速生物信息学在公共卫生中的应用。

Accelerating bioinformatics implementation in public health.

机构信息

Theiagen Genomics, Suite 400, 1745 Shea Center Drive, Highlands Ranch, CO, 80129, USA.

Wyoming Public Health Laboratory, 208 S College Dr, Cheyenne, WY 82007, USA.

出版信息

Microb Genom. 2023 Jul;9(7). doi: 10.1099/mgen.0.001051.

DOI:10.1099/mgen.0.001051
PMID:37428142
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10438813/
Abstract

We have adopted an open bioinformatics ecosystem to address the challenges of bioinformatics implementation in public health laboratories (PHLs). Bioinformatics implementation for public health requires practitioners to undertake standardized bioinformatic analyses and generate reproducible, validated and auditable results. It is essential that data storage and analysis are scalable, portable and secure, and that implementation of bioinformatics fits within the operational constraints of the laboratory. We address these requirements using Terra, a web-based data analysis platform with a graphical user interface connecting users to bioinformatics analyses without the use of code. We have developed bioinformatics workflows for use with Terra that specifically meet the needs of public health practitioners. These Theiagen workflows perform genome assembly, quality control, and characterization, as well as construction of phylogeny for insights into genomic epidemiology. Additonally, these workflows use open-source containerized software and the WDL workflow language to ensure standardization and interoperability with other bioinformatics solutions, whilst being adaptable by the user. They are all open source and publicly available in Dockstore with the version-controlled code available in public GitHub repositories. They have been written to generate outputs in standardized file formats to allow for further downstream analysis and visualization with separate genomic epidemiology software. Testament to this solution meeting the requirements for bioinformatic implementation in public health, Theiagen workflows have collectively been used for over 5 million sample analyses in the last 2 years by over 90 public health laboratories in at least 40 different countries. Continued adoption of technological innovations and development of further workflows will ensure that this ecosystem continues to benefit PHLs.

摘要

我们采用了开放的生物信息学生态系统来应对公共卫生实验室(PHL)中生物信息学实施的挑战。公共卫生领域的生物信息学实施要求从业者进行标准化的生物信息学分析,并生成可重复、验证和可审核的结果。数据存储和分析必须具有可扩展性、可移植性和安全性,并且生物信息学的实施必须符合实验室的操作限制。我们使用 Terra 来满足这些要求,Terra 是一个基于网络的数据分析平台,具有图形用户界面,可将用户连接到生物信息学分析,而无需使用代码。我们已经为 Terra 开发了生物信息学工作流程,这些工作流程专门满足公共卫生从业者的需求。这些 Theiagen 工作流程可执行基因组组装、质量控制和特征描述,以及构建系统发育以深入了解基因组流行病学。此外,这些工作流程使用开源容器化软件和 WDL 工作流程语言,以确保与其他生物信息学解决方案的标准化和互操作性,同时也可以由用户进行调整。它们都是开源的,在 Dockstore 中可以公开获取,并且版本控制的代码可在公共 GitHub 存储库中获取。它们被编写为以标准化文件格式生成输出,以便与单独的基因组流行病学软件进行进一步的下游分析和可视化。证明这个解决方案满足公共卫生中生物信息学实施的要求,在过去的 2 年中,Theiagen 工作流程已经在至少 40 个不同国家的 90 多个公共卫生实验室中被用于超过 500 万次样本分析。持续采用技术创新并开发更多的工作流程将确保这个生态系统继续使 PHL 受益。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fbd7/10438813/69e1ab278e96/mgen-9-1051-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fbd7/10438813/64543ebb0ebc/mgen-9-1051-g001.jpg
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https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fbd7/10438813/69e1ab278e96/mgen-9-1051-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fbd7/10438813/64543ebb0ebc/mgen-9-1051-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fbd7/10438813/30d8c1e2b6d4/mgen-9-1051-g002.jpg
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