2019
DOI: 10.1038/s41576-019-0113-7
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Clinical metagenomics

Abstract: | Clinical metagenomic next-generation sequencing (mNGS), the comprehensive analysis of microbial and host genetic material (DNA and RNA) in samples from patients, is rapidly moving from research to clinical laboratories. This emerging approach is changing how physicians diagnose and treat infectious disease, with applications spanning a wide range of areas, including antimicrobial resistance, the microbiome, human host gene expression (transcriptomics) and oncology. Here, we focus on the challenges of impleme… Show more

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Cited by 1,023 publications
(905 citation statements)
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References 147 publications
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“…Despite its longer turnaround time and higher cost, mNGS demonstrated a satisfying level of sensitivity when compared to PCR assays in our study. Moreover, the nature of unbiased sequencing offers higher tolerance for genetic drift in the target pathogens, whereas certain changes in sequence can result in critical impact on the assay efficiency 21,22 . Along with targeted assays, mNGS should serve as an indispensable tool for sensitive and close monitoring of the molecular evolution for SARS-COV-2.…”
Section: Discussionmentioning
confidence: 99%
“…Despite its longer turnaround time and higher cost, mNGS demonstrated a satisfying level of sensitivity when compared to PCR assays in our study. Moreover, the nature of unbiased sequencing offers higher tolerance for genetic drift in the target pathogens, whereas certain changes in sequence can result in critical impact on the assay efficiency 21,22 . Along with targeted assays, mNGS should serve as an indispensable tool for sensitive and close monitoring of the molecular evolution for SARS-COV-2.…”
Section: Discussionmentioning
confidence: 99%
“…Since that time, several laboratories, including the laboratory who co-authored that initial case study, have validated metagenomic analyses of next-generation sequencing data directly from a variety of clinical sample types. A detailed description of next-generation sequencing and metagenomics methods is provided in the following references (62,63). It is important to highlight that each laboratory has highly lab-and sample-type specific methods from sample preparation, library preparation, sequencing platform and depth, to bioinformatic analysis and interpretation.…”
Section: Next-generation Sequencing and Clinical Metagenomicsmentioning
confidence: 99%
“…Metagenomic next-generation sequencing (mNGS) is a promising candidate approach for broad-spectrum pathogen identification in clinical samples, as nearly all potential pathogens (viruses, bacteria, fungi and parasites) can be detected by uniquely identifying DNA and/or RNA shotgun sequences 6,7 . This method has been successfully applied for the clinical diagnosis of infectious diseases 8,9 , outbreak surveillance 10,11 and pathogen discovery 12 .…”
mentioning
confidence: 99%
“…Viral genome sequencing is essential for outbreak management, as it enables origin determination and monitoring of viral transmission patterns 10 . In general, target enrichment of NGS libraries is required to obtain sufficient viral genome coverage for phylogenetic and molecular clock analyses 6 . The enrichment of libraries using multiplex PCR of tiled amplicons (tiling multiplex PCR) and/or capture probe enrichment has been successfully used for the genomic surveillance of EBOV 18,19 , ZIKV [20][21][22] and yellow fever virus (YFV) outbreaks 23 .…”
mentioning
confidence: 99%