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1062 results

Full text 2026

Assessment of long-read strategies for the enrichment of clinically relevant breakpoints in lymphomas: towards a diagnostic implementation

Pardy F, Reblova K, Svozilova H, et al.

Recurrent chromosomal translocations are hallmarks of many hematological malignancies, including lymphomas and leukemias. Accurate breakpoint detection is essential for diagnostics, treatment optimization, and disease monitoring. Long-read sequencing (Oxford Nanopore Technologies) enables unambiguous mapping and translocation …

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Nanopore Sequencing
Full text 2025

Development and performance evaluation of a clinical metagenomics approach for identifying pathogens in the whole blood from patients with undifferentiated fever

Slunečko J, Kogoj R, Zakotnik S, et al.

<h4>Introduction</h4>Blood culture is the cornerstone of microbiological diagnostics for patients with acute undifferentiated fever and no obvious localization of infection; however, up to 50% of cases remain undiagnosed. Infections caused by arboviruses, fastidious or even …

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Metagenomics Nanopore Sequencing
Full text 2026

SquiDBase: a community resource of raw nanopore data from microbes

Cuypers WL, Ceylan H, Turcksin E, et al.

Nucleotide sequences in the FASTQ or BAM format are widely shared, yet derived from platform-specific raw data outputs that differ across sequencing platforms. In Oxford Nanopore Technologies (ONT) sequencing, raw signal data contain valuable biological …

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Nanopore Sequencing
Full text 2025

Evaluation of four DNA extraction kits for implementation of nanopore sequencing in routine surveillance of antimicrobial resistance in low-resource settings

Thornval NR, Lacy-Roberts N, Nilsson P, et al.

<h4>Introduction</h4>Whole genome sequencing (WGS) is a valuable tool in surveillance of antimicrobial resistance (AMR). However, the technology faces several implementation challenges in low-resource settings. While advances in Oxford Nanopore Technologies (ONT) field sequencing have enabled …

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Nanopore Sequencing
Full text 2025

Rapid whole genome sequencing in newborn screening for metabolic diseases

Zheng J, Yang X.

<h4>Background and purpose</h4>Metabolic disorders, which are estimated to include approximately 1,500 distinct conditions such as urea cycle disorders, lysosomal storage diseases, and mitochondrial dysfunctions, pose a significant clinical challenge due to their genetic heterogeneity and …

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Nanopore Sequencing
Full text 2025

Comparison of Illumina and Oxford Nanopore Technology systems for the genomic characterization of &lt;i&gt;Streptococcus pneumoniae&lt;/i&gt;

Dakroub F, Akl F, Zaghlout A, et al.

Whole-genome sequencing (WGS) is an invaluable tool that enables high-resolution genotyping to precisely identify bacterial strains. It is particularly significant for highly pathogenic bacteria such as <i>Streptococcus pneumoniae</i>, a worldwide leading cause of mortality and …

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Nanopore Sequencing