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http://dx.doi.org/10.1017/S0950268820001132 | DOI Listing |
Hum Genome Var
September 2025
Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
Here, using whole-exome sequencing of a cohort of 17 Japanese patients with 46,XY disorders or differences of sex development, we identified two pathogenic DEAH-box helicase 37 (DHX37) variants in three patients. We also identified a patient with a likely pathogenic variant in SOX9 and a rare likely benign variant in DHX37. This Data Report highlights the genetic and phenotypic diversity of DXH37 variants.
View Article and Find Full Text PDFInfect Genet Evol
September 2025
Next Generation Sequencing Unit, School of Biomedical Sciences, Faculty of Health Sciences, University of the Free State, Bloemfontein, South Africa; Division of Virology, School of Pathology, Faculty of Health Sciences, University of the Free State, Bloemfontein, South Africa. Electronic address: N
The sub-Saharan African region bears the highest burden of rotavirus-associated morbidity and mortality, with substantial genetic diversity observed in circulating strains despite vaccine introduction. The G8 genotype, originally predominant in bovine strains, has increasingly become prevalent in humans, suggesting a possible interface of animal-to-human transmission and highlighting its role in African strain diversity. In this study, we performed whole genome sequencing and evolutionary analysis of 21 archival G8P[4] strains collected through gastroenteritis surveillance in South Africa between 2009 and 2021 from children under five years of age.
View Article and Find Full Text PDFMicrobes Infect
September 2025
Institute of Medical Microbiology, University of Zurich, Zurich, Switzerland; ESCMID study group on Molecular Diagnostics and Genomics. Electronic address:
Rapid advancements in artificial intelligence (AI) and machine learning (ML) offer significant potential to transform medical microbiology diagnostics, improving pathogen identification, antimicrobial susceptibility prediction and outbreak detection. To address these opportunities and challenges, the ESCMID workshop, "Artificial Intelligence and Machine Learning in Medical Microbiology Diagnostics", was held in Zurich, Switzerland, from June 2-5, 2025. The course featured expert lectures, practical sessions and panel discussions covering foundational ML concepts and deep learning architectures, data interoperability, quality control processes, model development and validation strategies.
View Article and Find Full Text PDFEur J Obstet Gynecol Reprod Biol
August 2025
Reproductive Medicine Center, Shenzhen Maternity and Child Healthcare Hospital, Southern Medical University, Shenzhen 518000 Guangdong, China; Shenzhen Clinical Research Center for Obstetrics & Gynecology and Reproductive System Diseases, Shenzhen 518000 Guangdong, China. Electronic address: szfyart
Objective: This study investigates the association between alobar holoprosencephaly (HPE) and de novo germline microdeletions in the Xq25 region. To develop a Preimplantation Genetic Testing for Monogenic Disorders (PGT-M) based workflow enabling high-resolution preimplantation detection of sub-Mb microdeletions, overcoming the >1 Mb resolution limit of conventional whole genome amplification(WGA) copy number variation(CNV) sequencing to identify causative Xq25 variants and prevent pathogenic microdeletion transmission.
Methods: This study presents a clinical case involving a couple with an adverse obstetric history accompanied by two occurrences of HPE.
Phytopathology
September 2025
308 Plant protection collegenorthwest a&F universityyangling, shaanxi, China, 712100;
is a significant phytopathogen in both pre- and postharvest stages of fruit development and storage. The development of environmentally-friendly biological control agents has attracted increasing research interest. In this study, we characterized a fungal strain ( LQ) that strongly inhibits .
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