Browse Papers

Search the literature by keyword, topic, or author. Filter to articles with full text available.

1062 results

Full text 2026

Intrachromosomal insertion as a diagnostic challenge: a hidden structural rearrangement causing recurrent duplication and deletion

Kawamura R, Shichiri Y, Suzuki H, et al.

<h4>Background</h4>Intrachromosomal insertion is a rare form of structural chromosomal rearrangement that often cannot be accurately delineated by conventional G-banding, making it difficult to predict reproductive outcomes. In clinical practice, such insertions are often misinterpreted as …

Read PDF
Nanopore Sequencing
Full text 2026

Comprehensive analysis of alternative splicing and transcriptome diversity in apple using long-read sequencing

Hu C, Huang X, Luo S, et al.

<h4>Introduction</h4>Alternative splicing (AS) is a major source of transcriptome diversity in plants, but short-read RNA sequencing (RNA-seq) has limited power for resolving full-length transcripts and complex AS patterns, particularly in perennial crops.<h4>Methods</h4>We integrated Oxford Nanopore …

Read PDF
Nanopore Sequencing Transcriptomics
Full text 2025

Genome sequences of polar &lt;i&gt;Carnobacterium maltaromaticum&lt;/i&gt; strains 2857 and 2862 with genes for glycerol and 1,2-propanediol pathways

Aleksandrzak-Piekarczyk T, Grzesiak J, Gawor J, et al.

We report genome sequences of two polar <i>Carnobacterium maltaromaticum</i> strains: 2857 (draft, 3.54 Mb, 34.4% GC) and 2862 (complete, 3.61 Mb, 34.6% GC, five plasmids). Sequencing used Illumina (both) and Nanopore (2862). Genome analysis revealed …

Read PDF
Nanopore Sequencing
Full text 2025

Accurate and rapid single nucleotide variation detection in &lt;i&gt;PCSK9&lt;/i&gt; gene using nanopore sequencing

Massaiu I, Valerio V, Rusconi V, et al.

<h4>Background</h4>Genetic testing is essential for disease screening, diagnosis, prognosis, and pharmacotherapy guidance. Oxford Nanopore Technologies (ONT) offers a cost-effective platform for long-read sequencing, yet its routine use in clinical diagnostics remains under evaluation. We tested …

Read PDF
Nanopore Sequencing
Full text 2026

Draft genome sequence of &lt;i&gt;bla&lt;/i&gt;&lt;sub&gt;IMP-1&lt;/sub&gt;-carrying &lt;i&gt;Phytobacter ursingii&lt;/i&gt; OUH-01, isolated from the feces of an acute lymphoblastic leukemia patient

Tsuji S, Hagiya H, Fukushima S, et al.

We report the 5.7 Mbp draft genome of carbapenem-resistant <i>Phytobacter ursingii</i> strain OUH-01, recovered from the feces of a patient with acute lymphoblastic leukemia. The genome comprises a chromosome (G+C content of 53.5%), three plasmids, …

Read PDF
Nanopore Sequencing
Full text 2026

Metagenomics provides broad detection of pathogens, antimicrobial resistance, and virulence genes in pig diarrhoea and complement conventional methods

Ivanova M, Svensmark B, Bruun Jensen EE, et al.

BACKGROUND: Post-weaning diarrhoea (PWD) remains a major cause of morbidity in pig production and is commonly associated with enterotoxigenic Escherichia coli (ETEC). Conventional diagnostics rely on culturing and targeted qPCR, which provide limited resolution of …

Read PDF
Nanopore Sequencing
Full text 2026

A comprehensive evaluation of long-read de novo transcriptome assembly

Yan F, Baldoni PL, Lancaster J, et al.

<h4>Introduction</h4>Recently, de novo transcriptome assembly methods have been developed to utilise long-read data in cases where a reference genome is unavailable, such as in non-model organisms. Despite the potential of these tools, there remains a …

Read PDF
Nanopore Sequencing
Full text 2026

Long-Read Whole-Transcriptome Sequencing and Selective Gene Panel Profiling Enable Sensitive Detection of Fusion Oncogenes in Pediatric B-Cell Acute Lymphoblastic Leukemia

Lin J, Opoku KB, Litzow MR, et al.

Long-read whole-transcriptome sequencing (WTS) has the potential to precisely characterize fusion oncogenes that drive leukemia and other cancers. Although there is a variety of general-purpose fusion detection algorithms that use modern long-read sequencing data, they …

Read PDF
Nanopore Sequencing
Full text 2025

Nanopore Sequencing-Driven Mapping of Antimicrobial Resistance Genes in Selected &lt;i&gt;Escherichia coli&lt;/i&gt; Isolates from Pigs and Poultry Layers in Nigeria

Ogunleye AO, Ghosh P, Gueye AB, et al.

<b>Background:</b> Despite the huge burden of deaths associated with or attributable to antimicrobial resistance, studies on sequencing based antimicrobial resistance (AMR) monitoring in Africa are scarce, specifically in the animal sector. Objective and Methods: With …

Read PDF
Nanopore Sequencing
Full text 2025

Advances in Detecting RNA Modifications Using Direct RNA Nanopore Sequencing

Liu Y, Li Y, Sun Q.

RNA modifications add a dynamic and versatile regulatory layer to gene expression, influencing RNA stability, splicing, translation, and cellular responses. Despite their importance, traditional detection methods-such as antibody-based enrichment, chemical labeling, or indirect sequencing approaches-often …

Read PDF
Nanopore Sequencing Transcriptomics
Full text 2025

Chromosome-Level Genome Assembly and Annotation of the Japanese Cutlassfish (Trichiurus japonicus): A High-Quality Genomic Resource Featuring Nuclear and Mitochondrial Completeness for Future Studies

Hsu PC, Lin CY, Hsieh PH, et al.

The Japanese cutlassfish (Trichiurus japonicus) is a commercially important marine species across Asia. Here, we present a high-quality, chromosome-level genome assembly generated using PacBio HiFi, Hi-C, and Nanopore ONT reads. The nuclear genome comprised 24 …

Read PDF
Nanopore Sequencing