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A case of Li-Fraumeni syndrome caused by a 3.6 kb deletion in the TP53 gene suggested by additional data from the NCC Oncopanel.
Jpn J Clin Oncol
January 2025
Division of Molecular and Cellular Oncology, Miyagi Cancer Center Research Institute, 47-1 Nodayama, Medeshima-Shiode, Natori, Miyagi 981-1293, Japan.
A Japanese woman with Li-Fraumeni syndrome in her 40s underwent comprehensive genetic profiling accompanied by germline data using the Oncoguide NCC Oncopanel, but no germline pathogenic variants in the tumor suppressor gene TP53 were detected. However, careful examination of additional data in the report suggested the presence of a large TP53 deletion. Custom targeting next-generation sequencing and nanopore sequencing revealed a 3.
View Article and Find Full Text PDFAdvancing long-read nanopore genome assembly and accurate variant calling for rare disease detection.
Am J Hum Genet
January 2025
UC Santa Cruz Genomics Institute, University of California, Santa Cruz, Santa Cruz, CA, USA. Electronic address:
More than 50% of families with suspected rare monogenic diseases remain unsolved after whole-genome analysis by short-read sequencing (SRS). Long-read sequencing (LRS) could help bridge this diagnostic gap by capturing variants inaccessible to SRS, facilitating long-range mapping and phasing and providing haplotype-resolved methylation profiling. To evaluate LRS's additional diagnostic yield, we sequenced a rare-disease cohort of 98 samples from 41 families, using nanopore sequencing, achieving per sample ∼36× average coverage and 32-kb read N50 from a single flow cell.
View Article and Find Full Text PDFEnhancing public health outcomes with AI-powered clinical surveillance: Precise detection of COVID-19 variants using qPCR and nanopore sequencing.
J Infect Public Health
January 2025
Division of Clinical Pathology, Department of Pathology, Tri-Service General Hospital, National Defense Medical Center, Taipei, Taiwan. Electronic address:
Background: We aimed to evaluate the efficacy of integrating the Varia5 multiplex assay (qPCR) and whole genome sequencing (WGS) for monitoring SARS-CoV-2, focusing on their overall performance in identifying various virus variants.
Methods: This study included 140 naso-pharyngeal swab samples from individuals with suspected COVID-19. We utilized our self-developed Varia5 multiplex assay, which targets five viral genes linked to COVID-19 mutations, in conjunction with comprehensive genomic analysis performed through whole genome sequencing (WGS) using the Oxford Nanopore system.
Effect of a Novel Food Rich in Miraculin on the Intestinal Microbiome of Malnourished Patients with Cancer and Dysgeusia.
Nutrients
January 2025
Department of Biochemistry and Molecular Biology II, School of Pharmacy, University of Granada, 18071 Granada, Spain.
Background/objectives: Dysgeusia contributes to malnutrition and worsens the quality of life of patients with cancer. Despite the different strategies, there is no effective treatment for patients suffering from taste disorders provided by the pharmaceutical industry. Therefore, we developed a novel strategy for reducing side effects in cancer patients by providing a novel food supplement with the taste-modifying glycoprotein miraculin, which is approved by the European Union, as an adjuvant to medical-nutritional therapy.
View Article and Find Full Text PDFDiversity and Multiple Infections of in Red Deer and Deer Keds.
Pathogens
December 2024
Department of Parasitology, Faculty of Science, Charles University, 128 00 Prague, Czech Republic.
Bartonellae are zoonotic pathogens with a broad range of reservoir hosts and vectors. To examine sylvatic reservoirs, tissue samples of red deer (, = 114) and their associated deer keds (, = 50; , = 272) collected in the Czech Republic were tested for the presence of using PCR at four loci (, , , ITS); PCR sensitivity was increased significantly by using primers modified for the detection of wildlife-associated bartonellae. One-third of the deer and 70% of the deer keds were positive; within the tested animal tissues, usually the spleen was positive.
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