BACKGROUND: KMT2B-related dystonia is a childhood-onset movement disorder. This study investigated a novel KMT2B gene variant using whole exome sequencing (WES) and bioinformatics analysis, and expanded the known clinical spectrum of KMT2B-related dy...
Advanced 3D imaging techniques and image segmentation and classification methods can transform biomedical research by offering insights into the human brain cytoarchitecture under pathological conditions. We propose a comprehensive pipeline for 3D im...
BACKGROUND: Extracting genetic phenotype mentions from clinical reports and normalizing them to standardized concepts within the human phenotype ontology are essential for consistent interpretation and representation of genetic conditions. This is pa...
BACKGROUND: The exact mechanisms underlying paediatric abdominal pain (AP) remain unclear due to patient heterogeneity. This preliminary study aimed to identify AP phenotypes and develop predictive models to explore associated factors, with the goal ...
Stomata are vital for controlling gas exchange and water vapor release, which significantly affect photosynthesis and transpiration. Characterizing stomatal traits such as size, density, and distribution is essential for adaptation to the environment...
Heterogeneity in cancer is known to be a contributor to the formation of metastatic lesions, poor prognosis, and ultimately undermines therapeutic efficacy. This same tumor heterogeneity is reflected in circulating tumor cells (CTCs) and tumor derive...
Accurately identifying genes responsible for specific functions is a cornerstone of biological research, but current methods are often limited to single-species analyses. Here, we present a novel method, called Genomic and Phenotype-based machine lea...
Journal of nuclear medicine : official publication, Society of Nuclear Medicine
Nov 3, 2025
Combined PET/CT imaging provides critical insights into both anatomic and molecular processes, yet traditional single-tracer approaches limit multidimensional disease phenotyping; to address this, we developed the PET Unified Multitracer Alignment (P...
Stalk lodging causes global maize (Zea mays L.) yield losses exceeding $6 billion annually. The poorly resolved genetic architecture of stalk lodging resistance, a key determinant of the ability of a plant to remain upright, poses a major constraint ...
Lung structures are critical for gas exchange and contribute to the pathogenesis of respiratory diseases, exhibiting notable lobe-specific heterogeneity. To investigate their genetic basis, we apply a deep-learning AI system and Pyradiomics to define...
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