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利用 Jovian 实现公共卫生和临床领域的可及性病毒宏基因组学。

Accessible viral metagenomics for public health and clinical domains with Jovian.

机构信息

National Institute of Public Health and the Environment, Center for Infectious Disease Control, 3720BA, Bilthoven, The Netherlands.

Viroscience, Erasmus University Medical Center, 3015GB, Rotterdam, The Netherlands.

出版信息

Sci Rep. 2024 Oct 29;14(1):26018. doi: 10.1038/s41598-024-73785-y.


DOI:10.1038/s41598-024-73785-y
PMID:39472593
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11522440/
Abstract

The integration of next-generation sequencing into clinical diagnostics and surveillance initiatives is impeded by the lack of data analysis pipelines that align with privacy legislation and laboratory certification protocols. To address these challenges, we developed Jovian, an open-source, virus-focused, metagenomic analysis workflow for Illumina data. Jovian generates scaffolds enriched with pertinent annotations, including taxonomic classification, combined with metrics needed for quality assessment (coverage depth, average GC content, localization of open reading frames, minority single nucleotide polymorphisms), and incorporates host and disease metadata. Interactive web-based reports with an audit trail are generated. Jovian was employed on four systems, hosted by three institutes, utilizing grid-computers, a high-performance compute singular server, and a Windows10 laptop. All systems yielded identical results with matching MD5sums. Comparison with a commercial online reference tool using viral gastroenteritis samples confirmed the identification of the same pathogens. Jovian provides comparable results to a commercially available online reference tool and generates identical results at different institutes with different IT architectures, proving it is portable and reproducible. Jovian addresses bottlenecks in the deployment of metagenomics within public health and clinical laboratories and has the potential to enhance the breadth of surveillance and testing programs, thereby fostering more effective public health interventions.

摘要

将下一代测序技术整合到临床诊断和监测计划中受到缺乏符合隐私法规和实验室认证协议的数据分析管道的阻碍。为了解决这些挑战,我们开发了 Jovian,这是一个用于 Illumina 数据的开源、以病毒为重点的宏基因组分析工作流程。Jovian 生成了富含相关注释的支架,包括分类学分类,以及质量评估所需的指标(覆盖深度、平均 GC 含量、开放阅读框的定位、少数单核苷酸多态性),并整合了宿主和疾病元数据。生成带有审计跟踪的交互式基于网络的报告。Jovian 用于四个系统,由三个研究所托管,利用网格计算机、高性能计算单一服务器和 Windows10 笔记本电脑。所有系统都产生了相同的结果,并且 MD5 校验和匹配。使用病毒性胃肠炎样本与商业在线参考工具的比较证实了相同病原体的鉴定。Jovian 提供了与商业在线参考工具相当的结果,并在具有不同 IT 架构的不同研究所产生相同的结果,证明其可移植且可重复。Jovian 解决了公共卫生和临床实验室中宏基因组学部署的瓶颈问题,并有潜力增强监测和测试计划的广度,从而促进更有效的公共卫生干预措施。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0db0/11522440/c2107599905e/41598_2024_73785_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0db0/11522440/dd57ae05c7cb/41598_2024_73785_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0db0/11522440/6657d040f502/41598_2024_73785_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0db0/11522440/c2107599905e/41598_2024_73785_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0db0/11522440/dd57ae05c7cb/41598_2024_73785_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0db0/11522440/6657d040f502/41598_2024_73785_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0db0/11522440/c2107599905e/41598_2024_73785_Fig3_HTML.jpg

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Accessible viral metagenomics for public health and clinical domains with Jovian.

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引用本文的文献

[1]
Clinical metagenomics for diagnosis and surveillance of viral pathogens.

Nat Rev Microbiol. 2025-8-13

本文引用的文献

[1]
Metagenomic Surveillance of Viral Gastroenteritis in a Public Health Setting.

Microbiol Spectr. 2023-8-17

[2]
igv.js: an embeddable JavaScript implementation of the Integrative Genomics Viewer (IGV).

Bioinformatics. 2023-1-1

[3]
Evaluation of tools for taxonomic classification of viruses.

Brief Funct Genomics. 2023-1-20

[4]
The Impact of Real-Time Whole-Genome Sequencing in Controlling Healthcare-Associated SARS-CoV-2 Outbreaks.

J Infect Dis. 2022-1-5

[5]
Benchmark of thirteen bioinformatic pipelines for metagenomic virus diagnostics using datasets from clinical samples.

J Clin Virol. 2021-8

[6]
Molecular Epidemiology and Evolutionary Trajectory of Emerging Echovirus 30, Europe.

Emerg Infect Dis. 2021-6

[7]
Recommendations for the introduction of metagenomic next-generation sequencing in clinical virology, part II: bioinformatic analysis and reporting.

J Clin Virol. 2021-5

[8]
Broad Virus Detection and Variant Discovery in Fecal Samples of Hematopoietic Transplant Recipients Using Targeted Sequence Capture Metagenomics.

Front Microbiol. 2020-11-17

[9]
Molecular epidemiology of mumps viruses in the Netherlands, 2017-2019.

PLoS One. 2020-9-14

[10]
Improved diagnosis of viral encephalitis in adult and pediatric hematological patients using viral metagenomics.

J Clin Virol. 2020-9

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