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Third-Generation Sequencing: The Spearhead towards the Radical Transformation of Modern Genomics.第三代测序:引领现代基因组学彻底变革的先锋
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Nanopore metagenomics enables rapid clinical diagnosis of bacterial lower respiratory infection.纳米孔宏基因组学可快速临床诊断细菌性下呼吸道感染。
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Rapid and precise alignment of raw reads against redundant databases with KMA.使用 KMA 实现原始读取与冗余数据库的快速精确比对。
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Evaluating next-generation sequencing for direct clinical diagnostics in diarrhoeal disease.评估用于腹泻病直接临床诊断的新一代测序技术。
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纳米孔测序技术用于实验室能力薄弱地区传染病的临床诊断:一例报告

Nanopore sequencing technology for clinical diagnosis of infectious diseases where laboratory capacity is meager: A case report.

作者信息

Kumburu Happiness H, Shayo Mariana, van Zwetslaar Marco, Njau Judith, Kuchaka Davis J, Ignas Ignas P, Wadugu Boaz, Kasworm Robert, Masaki Lazaro J, Hallgren Malte B, Clausen Philip T L C, Mmbaga Blandina Theophil, Aarestrup Frank M, Sonda Tolbert B

机构信息

Kilimanjaro Christian Medical Centre (KCMC), Tanzania.

Kilimanjaro Clinical Research Institute (KCRI), Sokoine Road, P. O. Box. 2236, Moshi, Tanzania.

出版信息

Heliyon. 2023 Jun 28;9(7):e17439. doi: 10.1016/j.heliyon.2023.e17439. eCollection 2023 Jul.

DOI:10.1016/j.heliyon.2023.e17439
PMID:37539288
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10395014/
Abstract

In resource-limited settings, patients are often first presented to clinical settings when seriously ill and access to proper clinical microbial diagnostics is often very limited or non-existing. On February 16th 2022 we were on a field trip to test a completely field-deployable metagenomics sequencing set-up, that includes DNA purification, sequencing, and bioinformatics analyses using bioinformatics tools installed on a laptop for water samples, just outside Moshi, Tanzania. On our way to the test site, we were contacted by the nearby Machame hospital regarding a child seriously ill with diarrhea and not responding to treatment. Within the same day, we conducted an onsite metagenomics examination of a fecal sample from the child, and was identified as the causative agent. The treatment was subsequently changed, with almost immediate improvement, and the child was discharged on February 21st.

摘要

在资源有限的环境中,患者往往在病情严重时才首次前往临床机构就诊,而获得适当的临床微生物诊断的机会通常非常有限或根本不存在。2022年2月16日,我们正在进行一次实地考察,以测试一套完全可在野外部署的宏基因组测序装置,该装置包括DNA纯化、测序以及使用安装在笔记本电脑上的生物信息学工具对水样进行生物信息学分析,地点就在坦桑尼亚莫希郊外。在我们前往测试地点的途中,附近的马查梅医院联系了我们,告知有一名患严重腹泻且治疗无反应的儿童。在同一天,我们对该儿童的粪便样本进行了现场宏基因组学检查,确定了病原体。随后更改了治疗方案,患儿几乎立即好转,并于2月21日出院。