Data from a large cohort of individuals referred for NGS testing evaluate the utility of next-generation sequencing in clinical practice for diagnosing hereditary haemolytic anaemias.
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http://dx.doi.org/10.1111/bjh.20049 | DOI Listing |
Epileptic Disord
March 2025
Division of Child Neurology, Department of Pediatrics, Ege University Medical Faculty, Izmir, Turkey.
Objective: To evaluate the significance of genetic testing in neonatal- and infantile-onset genetic epilepsies (NIGEP) for enhanced molecular diagnosis with management implications.
Methods: A single-center cohort of 128 patients with NIGEP (aged 0-36 months) from 2010 to 2022 was retrospectively assessed. The diagnostic utility of genetic testing, including next-generation sequencing (NGS) and chromosome-based approaches, was surveyed to determine their impact on antiseizure medication adjustments and precision medicine.
Emerg Microbes Infect
March 2025
Department of Clinical Laboratory, The Second Affiliated Hospital of Soochow University, Suzhou, Jiangsu, China.
The emergence of carbapenem-resistant (CREC) poses crucial challenges in clinical management, requiring continuous monitoring to inform control and treatment strategies. This study aimed to investigate the genomic and epidemiological characteristics of CREC isolates obtained from a tertiary hospital in China between 2015 and 2022. Next-generation sequencing was used for genomic profiling, and clinical data from patients were integrated into the analysis.
View Article and Find Full Text PDFNucleic Acids Res
February 2025
Department of Statistics and Data Science, Northwestern University, 633 Clark Street, Evanston, IL 60208, United States.
Loop-seq is a pioneering high-throughput assay that enables the simultaneous quantification of intrinsic cyclizability across a large set of DNA fragments. However, the assay's reliance on biotin-tethered elongated DNA fragments introduces a tethering effect, leading to biased cyclizability measurements. We demonstrate that the current de-biasing technique is inadequate for fully mitigating this bias.
View Article and Find Full Text PDFPurpose Of Review: Genomic and transcriptomic sequencing technologies have revolutionized our ability to characterize prostate cancer at the molecular level. The underlying premise of next-generation sequencing technologies and their current and evolving applications in prostate cancer management are provided in the review.
Recent Findings: Improved methodologies are allowing timely sequencing of the coding regions or both the coding and noncoding regions of the genome to help identify potential mutations and structural variations in the prostate cancer genome, some of which are currently also targetable therapeutically.
HLA
March 2025
Peking University People's Hospital, Peking University Institute of Hematology, National Clinical Research Center for Hematologic Disease, Beijing Key Laboratory of Cell and Gene Therapy for Hematologic Malignancies, Peking University, Beijing, China.
The HLA-A*02:1178 allele differs from HLA-A*02:07:01:01 by one nucleotide substitution in codon 326 in exon 7.
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