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1474 results

Full text 2026

Accelerating minimap2 for whole-genome alignment

Chandra G, Vasimuddin M, Misra S, et al.

<h4>Summary</h4>Recent advances in long-read sequencing and genome assembly techniques have enabled the generation of high-quality assemblies, often comprising megabase-scale sequences that span entire chromosomes. This results in longer but fewer sequences per genome, which affects …

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Bioinformatics Genome Assembly Nanopore Sequencing
Full text 2026

Accelerated long-read variant calling with Clair3 for whole-genome sequencing

Zheng Z, He M, Yu X, et al.

<h4>Summary</h4>The rapid growth of genomic data and increasing adoption of long-read sequencing technologies have rendered variant calling one of the most computationally demanding tasks in genomic analysis. Although deep learning-based methods currently outperform conventional approaches …

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Nanopore Sequencing
Full text 2026

FuFiHLA: a tool for full-field HLA typing from long-read data

Hu J, Qin Q, Li H, et al.

<h4>Motivation</h4>Allele typing for Human Leukocyte Antigen (HLA) genes has many important clinical applications. Popular short-read typing can only accurately distinguish alleles at the coding sequence level, which potentially limit our understanding of the effect of …

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Nanopore Sequencing
Full text 2026

Barbell reveals and resolves demultiplexing and trimming issues in Nanopore data

Beeloo R, Groot Koerkamp R, Jia X, et al.

<h4>Motivation</h4>Oxford Nanopore sequencing enables long-read analysis for diverse applications, but artefacts introduced by Nanopore barcoding are poorly characterized and can compromise demultiplexing accuracy and downstream analyses.<h4>Results</h4>Using a rapid barcoding experiment on 66 diagnostic samples, we …

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Nanopore Sequencing
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