ORIGINAL RESEARCH article
Front. Cell. Infect. Microbiol.
Sec. Clinical and Diagnostic Microbiology and Immunology
This article is part of the Research TopicOmics Sciences in Microbiology and Infectious DiseasesView all 8 articles
NGS-based approach for diagnostically unidentified Mycobacterium saskatchewanense, a rare nontuberculous mycobacterium
Provisionally accepted- 1University of Bologna, Bologna, Italy
- 2Azienda Unita Sanitaria Locale della Romagna, Ravenna, Italy
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The implementation of advanced technologies and algorithms for diagnosis and genome analysis has made a fundamental contribution to pathogens' identification and investigation. The study of nontuberculous mycobacteria (NTM) benefited from a Next-Generation Sequencing (NGS) approach making it possible to describe sequences of rare pathogens. This study identified 20 diagnostically unknown isolates as Mycobacterium saskatchewanense ST 691, an environmental NTM. The isolates were sequenced on two different platforms to compare the throughputs and investigated in shared and unique Single Nucleotide Polymorphisms count, phylogenesis with 16S, hsp65, and rpoB concatenated genes, and core genome Multilocus Sequence Typing to broaden the current knowledge of M. saskatchewanense The isolates were sequenced on two different platforms to compare their throughput and to investigate shared and unique single nucleotide polymorphism (SNP) counts, phylogeny based on concatenated 16S, hsp65, and rpoB genes, and core-genome multilocus sequence typing (MLST), in order to broaden the current knowledge of Mycobacterium saskatchewanense. Principal Component Analysis on the three genes combined with the mutations' annotation suggests that rpoB may serve as a suitable marker to distinguish M. saskatchewanense from other NTM. Our results show that frontier studies performed using NGS can help in overcoming the limits of traditional diagnostic assays and deepen the knowledge on rare and uncommon NTM that are raising clinical concern.
Keywords: bioinformatics, diagnosis, marker, Nontuberculous, Sequence Analysis
Received: 14 Aug 2025; Accepted: 27 Nov 2025.
Copyright: © 2025 Gatti, Ingletto, Dirani, Zannoli, Taddei, Colosimo, Dionisi, Marzucco, Montanari, Denicolò, Congestrì, Grumiro, Brandolini, Guerra, De Pascali, Scagliarini, Cricca and Sambri. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Giulia Gatti
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