Metagenomic sequencing in clinical virology: advances in pathogen detection and future prospects

Abstract

Metagenomics enables the detection of all the genetic material of organisms present in a sample, making it a pathogen-agnostic approach for detecting common and rare or novel pathogens that are not included in conventional testing⁠. Beforehand, a clinician does not need to have a hypothesis of what pathogen is expected, unlike traditional polymerase chain reaction (PCR) testing⁠.This thesis is focusing on diagnostic yield, clinical findings, and enhancing technical opportunities in viral metagenomics⁠. The identification, typing, and quantification of viruses by means of viral metagenomics as a diagnostic tool are evaluated⁠. Technical aspects are appraised for improved sensitivity and specificity of the wet and dry (bioinformatic) lab components of viral metagenomics⁠. The use of a metagenomic protocol for virus discovery directly in a patient sample is assessed, and the best methods and approaches for performing genetic analysis of the SARS-CoV-2 virus are investigated⁠.Viral metagenomic testing results in the identification of more viruses, therefore it is a valuable addition to current diagnostic test protocols⁠. Additionally, it is a useful test for virus discovery and monitoring during infectious disease outbreaks caused by novel viruses⁠.LUMC / Geneeskund

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