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长读长微生物基因组组装、基因预测和功能注释:MIRRI ERIC意大利节点的一项服务。

Long-read microbial genome assembly, gene prediction and functional annotation: a service of the MIRRI ERIC Italian node.

作者信息

Contaldo Sandro Gepiro, d'Acierno Antonio, Bosio Lorenzo, Venice Francesco, Perottino Elisa Li, Hoyos Rea Janneth Estefania, Varese Giovanna Cristina, Cordero Francesca, Beccuti Marco

机构信息

Department of Computer Science, University of Torino, Turin, Italy.

Laboratorio InfoLife, Consorzio Interuniversitario Nazionale per l'Informatica, Roma, Italy.

出版信息

Front Bioinform. 2025 Jun 30;5:1632189. doi: 10.3389/fbinf.2025.1632189. eCollection 2025.

DOI:10.3389/fbinf.2025.1632189
PMID:40662129
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12256462/
Abstract

BACKGROUND

Understanding the structure and function of microbial genomes is crucial for uncovering their ecological roles, evolutionary trajectories, and potential applications in health, biotechnology, agriculture, food production, and environmental science. However, genome reconstruction and annotation remain computationally demanding and technically complex.

RESULTS

We introduce a bioinformatics platform designed explicitly for long-read microbial sequencing data to address these challenges. Developed as a service of the Italian MIRRI ERIC node, the platform provides a comprehensive solution for analyzing both prokaryotic and eukaryotic genomes, from assembly to functional protein annotation. It integrates state-of-the-art tools (e.g., Canu, Flye, BRAKER3, Prokka, InterProScan) within a reproducible, scalable workflow built on the Common Workflow Language and accelerated through high-performance computing infrastructure. A user-friendly web interface ensures accessibility, even for non-specialists.

CONCLUSION

Through case studies involving three environmentally and clinically significant microorganisms, we demonstrate the ability of the platform to produce reliable, biologically meaningful insights, positioning it as a valuable tool for routine genome analysis and advanced microbial research.

摘要

背景

了解微生物基因组的结构和功能对于揭示它们在生态中的作用、进化轨迹以及在健康、生物技术、农业、食品生产和环境科学中的潜在应用至关重要。然而,基因组重建和注释在计算上仍然要求很高且技术复杂。

结果

我们推出了一个专门为长读长微生物测序数据设计的生物信息学平台,以应对这些挑战。作为意大利MIRRI ERIC节点的一项服务开发,该平台提供了一个全面的解决方案,用于分析原核和真核基因组,从组装到功能蛋白注释。它在基于通用工作流语言构建的可重复、可扩展的工作流程中集成了最先进的工具(如Canu、Flye、BRAKER3、Prokka、InterProScan),并通过高性能计算基础设施加速。一个用户友好的网络界面确保了即使是非专业人员也能使用。

结论

通过涉及三种对环境和临床具有重要意义的微生物的案例研究,我们证明了该平台能够产生可靠的、具有生物学意义的见解,将其定位为常规基因组分析和高级微生物研究的宝贵工具。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c271/12256462/15b6f34ec3f8/fbinf-05-1632189-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c271/12256462/dff9ccd7e69f/fbinf-05-1632189-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c271/12256462/20e53f4430cf/fbinf-05-1632189-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c271/12256462/dd8db5068734/fbinf-05-1632189-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c271/12256462/eedde046ef7a/fbinf-05-1632189-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c271/12256462/15b6f34ec3f8/fbinf-05-1632189-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c271/12256462/dff9ccd7e69f/fbinf-05-1632189-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c271/12256462/20e53f4430cf/fbinf-05-1632189-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c271/12256462/dd8db5068734/fbinf-05-1632189-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c271/12256462/eedde046ef7a/fbinf-05-1632189-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c271/12256462/15b6f34ec3f8/fbinf-05-1632189-g005.jpg

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