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Nat Genet
September 2025
Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Despite advances in genomic diagnostics, the majority of individuals with rare diseases remain without a confirmed genetic diagnosis. The rapid emergence of advanced omics technologies, such as long-read genome sequencing, optical genome mapping and multiomic profiling, has improved diagnostic yield but also substantially increased analytical and interpretational complexity. Addressing this complexity requires systematic multidisciplinary collaboration, as recently demonstrated by targeted diagnostic workshops.
View Article and Find Full Text PDFArch Esp Urol
August 2025
Department of Urology II, European Interbalkan Medical Center, 55535 Thessaloniki, Greece.
The literature on the exact incidence of equipment failure during urological surgery is rather heterogeneous. Although failure rates are unacceptably high in other surgical disciplines, more compelling evidence is needed in urology. The present study provides case examples to illustrate several instances of urological instrument malfunction encountered in daily surgical practice, from the field of endourology to the newer robotic systems.
View Article and Find Full Text PDFJpn J Compr Rehabil Sci
September 2025
Department of AI Research Lab, Harada Academy, Kagoshima-shi, Kagoshima, Japan.
Unlabelled: Komaki S, Baba S, Yotsumoto Y, Yamashita T, Takayoshi S, Niidome H, Imamura M, Mihara M, Hirahara D. Development and Evaluation of a Virtual Reality-Based Teaching Material for Interprofessional Education: A Case Study on Swallowing Videofluorography. Jpn J Compr Rehabil Sci 2025; 16: 37-45.
View Article and Find Full Text PDFFront Public Health
September 2025
Department of Health Care Management, College of Health Sciences, University of Sharjah, Sharjah, United Arab Emirates.
Background: Bullying remains a critical issue affecting the well-being, academic performance, and long-term development of school-aged children. This study documents the participatory development of a Comprehensive School Anti-Bullying Logic Model in the Emirate of Abu Dhabi, United Arab Emirates (UAE).
Methods: Utilizing a multi-method process consisting of stakeholders' interviews, focus group discussions (FGDs), group workshops, and a scoping review-the study sought to construct a culturally sensitive and actionable anti-bullying logic model.
Front Bioinform
August 2025
Data Science, Vale Institute of Technology, Belém, Pará, Brazil.
Genome assembly remains an unsolved problem, and de novo strategies (i.e., those run without a reference) are relevant but computationally complex tasks in genomics.
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