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Next-generation sequencing (NGS) technology has expanded in the last decades with significant improvements in the reliability, sequencing chemistry, pipeline analyses, data interpretation and costs. Such advances make the use of NGS feasible in clinical practice today. This review describes the recent technological developments in NGS applied to the field of oncology. A number of clinical applications are reviewed, i.e., mutation detection in inherited cancer syndromes based on DNA-sequencing, detection of spliceogenic variants based on RNA-sequencing, DNA-sequencing to identify risk modifiers and application for pre-implantation genetic diagnosis, cancer somatic mutation analysis, pharmacogenetics and liquid biopsy. Conclusive remarks, clinical limitations, implications and ethical considerations that relate to the different applications are provided.
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http://dx.doi.org/10.3390/ijms18020308 | DOI Listing |
Proc Natl Acad Sci U S A
September 2025
Centre for Experimental Medicine & Rheumatology, William Harvey Research Institute and Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London EC1M 6BQ, United Kingdom.
MS4A4A belongs to the MS4A tetraspan protein superfamily and is selectively expressed by the monocyte-macrophage lineage. In this study, we aimed to evaluate the role of MS4A4A+ macrophages in rheumatoid arthritis (RA) pathogenesis and response to treatment. RNA sequencing and immunohistochemistry of synovial samples from either early treatment-naïve or active chronic RA patients showed that MS4A4A expression positively correlated with synovial inflammation.
View Article and Find Full Text PDFArch Microbiol
September 2025
División de Ciencias Naturales y Exactas, Departamento de Biología, Universidad de Guanajuato, Zip Code 36050, Guanajuato, Mexico.
Plasmids are fundamental to molecular biology and biotechnology, playing a crucial role in bacterial evolution. Some plasmids are linked to complex cellular dynamics, including pathogenicity islands, antibiotic resistance, and gene mobilization. This study reports the isolation and sequencing of two cryptic plasmids with different electrophoretic mobilities from the Escherichia coli clinical isolate O55.
View Article and Find Full Text PDFVirchows Arch
September 2025
Ningbo Clinical Pathology Diagnosis Center, #685 Huancheng North Road, Ningbo, Zhejiang, 315000, China.
The spindle cell variant of papillary thyroid carcinoma (PTC) is exceptionally rare and poses significant diagnostic challenges due to its morphological overlap with other spindle cell lesions of the thyroid. We report a novel case of spindle cell variant PTC in a 66-year-old woman presenting with a TI-RADS 4 thyroid nodule, initially classified as Bethesda III on fine-needle aspiration. Histopathological examination revealed a biphasic tumor composed predominantly of bland spindle cells arranged in solid sheets and fascicles, admixed with entrapped thyroid follicles.
View Article and Find Full Text PDFInt J Environ Health Res
September 2025
Department of Epidemiology, School of Public Health, Shanxi Medical University, Jinzhong, China.
The mechanism underlying the effects of Polycyclic aromatic hydrocarbons (PAHs) on missed abortion (MA) remains unclear. This study explored the relationship between PAHs exposure, telomere length (TL), metabolizing enzyme gene polymorphism, and MA in a case-control study with 253 pregnant women. A competitive enzyme-linked immunosorbent assay (ELISA) was used to quantify PAH-DNA adducts.
View Article and Find Full Text PDFBackground: Eosinophilic pleural effusion (EPE), characterized by atypical symptoms and rarity, is easily over-looked and misdiagnosed.
Methods: The patient underwent comprehensive routine laboratory tests including blood analysis and pleural effusion examination, along with B-ultrasound and computed tomography (CT) imaging. Based on combined evaluation of the epidemiological history, serum-specific parasite antibody detection and targeted Next-Generation Sequencing were performed on the clinical specimens.