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http://dx.doi.org/10.33963/v.phj.103770 | DOI Listing |
Am J Hum Genet
September 2025
Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK; The Royal Marsden NHS Foundation Trust, Fulham Road, London, UK. Electronic address:
Multiplex assays of variant effect (MAVEs) provide promising new sources of functional evidence, potentially empowering improved classification of germline genomic variants, particularly rare missense variants, which are commonly assigned as variants of uncertain significance (VUSs). However, paradoxically, quantification of clinically applicable evidence strengths for MAVEs requires construction of "truthsets" comprising missense variants already robustly classified as pathogenic and benign. In this study, we demonstrate how benign truthset size is the primary driver of applicable functional evidence toward pathogenicity (PS3).
View Article and Find Full Text PDFPLoS One
September 2025
Division of Reproductive Engineering, Center for Animal Resources and Development, Institute of Resource Development and Analysis, Kumamoto University, Kumamoto, Japan.
Zygotes are used to create genetically modified animals by electroporation using the CRISPR-Cas9 system. Such zygotes in rats are obtained from superovulated female rats after mating. Recently, we reported that in vivo-fertilized zygotes had higher cryotolerance and developmental ability than in vitro-fertilized zygotes in Sprague Dawley (SD) and Fischer 344 rats.
View Article and Find Full Text PDFSci Total Environ
September 2025
Department of Environmental Sciences, Louisiana State University, Baton Rouge, LA, USA. Electronic address:
Water quality ecosystem service (ES) modeling tools help inform freshwater management across landscapes. However, the validity of such models depends on the availability of water quality data for validation and calibration, limiting their application in regions where monitoring is limited. This study presents a methodological framework that combines machine learning (ML) and spatial extrapolation to enhance ES modeling in data-scarce contexts (https://github.
View Article and Find Full Text PDFMil Med
September 2025
School of Medical and Health Sciences, Edith Cowan University, Joondalup, WA 6027, Australia.
Introduction: Submarine environments pose unique challenges to maintaining physical activity and exercise routines due to confined spaces, demanding schedules, and limited resources. This study investigated submariners' physical activity patterns, sleep quality, and perceived exercise barriers in both land- and sea-based settings, with the goal of informing targeted health interventions.
Materials And Methods: Ethics approval was granted by the Defence Science and Technology Group and Edith Cowan University review panels.