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CLN2 disease (neuronal ceroid lipofuscinosis type 2) is an ultra-rare lysosomal storage disorder caused by mutations in the TPP1/CLN2 gene, resulting in impaired tripeptidyl peptidase 1 (TPP1) activity. The timely initiation of enzyme replacement therapy …
Read PDFMosquito-borne diseases are responsible for over 600,000 deaths annually, mainly in sub-Saharan countries. Mosquito surveillance is a crucial element of vector control programmes to assure they remain effective. This study focused on optimizing the use …
Read PDF<h4>Background</h4>Genomics is critical for malaria control and elimination by providing population-level monitoring of malarial gene flow. Whole genome sequencing is valuable for identifying such genomic changes and antimalarial drug resistance. However, sequencing submicroscopic and asymptomatic …
Read PDFRapid, accurate and scalable sequencing of bacteriophage genomes is critical to advance phage therapy, build phage biobanks and understand phage genomic diversity. Current methods are based on sequencing and assembling complete bacteriophage genomes using short- …
Read PDFOxford Nanopore Technologies (ONT) offers an efficient and effective solution for studying DNA methylation. Both R9.4.1 and R10.4.1 ONT chemistries have been widely used to generate numerous DNA methylation data, making it inevitable to conduct …
Read PDFZancudomyces culisetae is an obligate symbiotic fungus inhabiting the digestive tracts of aquatic insect larvae, including black flies, midges, and mosquitoes. With a global distribution and high prevalence in disease-transmitting insects, Z. culisetae serves as …
Read PDF<i>Meloidosgyne fallax</i> (false Columbia root knot nematode) is an invasive crop pest recorded across Europe, Africa, North America, and Oceania. Here we present the draft genome assembly of <i>M. fallax</i> which was de novo assembled …
Read PDFThe order Onygenales includes keratinophilic fungi, such as dermatophytes, that can cause onychomycosis. Although dermatophytes are the primary cause of these infections, some non-dermatophytic, keratinophilic onygenalean fungi have been reported as causing nail infections. Other …
Read PDFCore-genome multi-locus sequence typing (cgMLST) is a well-established and standardized method for genomics-based cluster detection and phylogenomic analysis of bacteria. The reduced error rate of Oxford Nanopore Technologies (ONT) R10 sequencing has prompted many laboratories …
Read PDFRespiratory infections pose a significant risk for people requiring prolonged mechanical ventilation, yet limited information exists regarding the complex microbiome dynamics of people with tracheostomies during chronic critical illness. Oxford Nanopore Technologies (ONT) long-read sequencing …
Read PDF<h4>Objectives</h4>We describe the identification and characterization of the HMB-3 variant, produced by a P. asiatica isolate from a patient in Switzerland.<h4>Materials and methods</h4>A carbapenem-resistant P. asiatica isolate was sent to the Swiss National Reference Center …
Read PDFThalassemia is a hereditary hemolytic disorder primarily caused by defects in the hemoglobin genes, which impede the synthesis of hemoglobin peptide chains. This disease is mainly classified into two types: α and β. Currently, there …
Read PDFBACKGROUND: Amplicon sequencing of Mycobacterium tuberculosis resistance-associated genes offers a cost-effective alternative to whole-genome sequencing for rapid profiling of infections and guiding clinical management. However, existing assays require frequent manual updates to accommodate emerging resistance …
Read PDFAntimicrobial resistance (AMR) is a worldwide health concern that compromises the successful treatment of a growing array of infectious diseases, particularly in low- and middle-income countries. AMR is exaggerated by the spread of antimicrobial resistance …
Read PDF(1) Background: Water buffaloes (<i>Bubalus bubalis</i>) are important for dairy and meat production. Up to now, genomic analysis has focused on female subjects, leaving the Y chromosome essentially unknown. Advances in third-generation sequencing (TGS) made …
Read PDFThe human skin commensal <i>Staphylococcus epidermidis</i> produces diverse, therapeutically relevant bacteriocins. We report the complete whole-genome sequence of the nasal isolate <i>S. epidermidis</i> B273, which contains a plasmid with the biosynthetic gene cluster for epidermicin …
Read PDFWe report a leg ulcer infection caused by <i>Vibrio metschnikovii</i> in a patient with chronic venous leg ulcers in Montevideo, Uruguay. Shotgun MS/MS combined with long-read whole-genome sequencing confirmed species assignment to <i>V. metschnikovii</i>. In …
Read PDFModern, integrative biodiversity research requires methods capable of bridging the gap between detailed morphological observations and the scalability of DNA sequencing. Integrative approaches like megabarcoding generate DNA sequences, while morphological functional data and abundance data …
Read PDF<i>Acinetobacter baumannii</i> is a leading cause of nosocomial infections and ranks first on the World Health Organization's list of critical-priority pathogens for antimicrobial resistance, surveillance, and new drug development. We report the whole-genome assembly of …
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