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HiFi long-read genomes for difficult-to-detect, clinically relevant variants.
Am J Hum Genet
January 2025
Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Radboudumc Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands. Electronic address:
Clinical short-read exome and genome sequencing approaches have positively impacted diagnostic testing for rare diseases. Yet, technical limitations associated with short reads challenge their use for the detection of disease-associated variation in complex regions of the genome. Long-read sequencing (LRS) technologies may overcome these challenges, potentially qualifying as a first-tier test for all rare diseases.
View Article and Find Full Text PDFDual-path neural network extracts tumor microenvironment information from whole slide images to predict molecular typing and prognosis of Glioma.
Comput Methods Programs Biomed
January 2025
School of Information Science and Technology, Fudan University, Shanghai, 200433, China; Key Laboratory of Medical Imaging, Computing and Computer Assisted Intervention, Shanghai, 200433, China. Electronic address:
Background And Objective: Utilizing AI to mine tumor microenvironment information in whole slide images (WSIs) for glioma molecular subtype and prognosis prediction is significant for treatment. Existing weakly-supervised learning frameworks based on multi-instance learning have potential in WSIs analysis, but the large number of patches from WSIs challenges the effective extraction of key local patch and neighboring patch microenvironment info. Therefore, this paper aims to develop an automatic neural network that effectively extracts tumor microenvironment information from WSIs to predict molecular typing and prognosis of glioma.
View Article and Find Full Text PDFWavelength selection method for near-infrared spectroscopy based on the combination of mutual information and genetic algorithm.
Talanta
January 2025
Daqing Oilfield Shale Oil Exploration and Development Headquarters, Daqing, 163455, China.
Near-infrared (NIR) spectroscopy analysis technology has become a widely utilized analytical tool in various fields due to its convenience and efficiency. However, with the promotion of instrument precision, the spectral dimension can now be expanded to include hundreds of dimensions. This expansion results in time-consuming modeling processes and a decrease in model performance.
View Article and Find Full Text PDFAI-derived automated quantification of cardiac chambers and myocardium from non-contrast CT: Prediction of major adverse cardiovascular events in asymptomatic subjects.
Atherosclerosis
December 2024
Biomedical Imaging Research Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA. Electronic address:
Background And Aims: The significance of left ventricular mass and chamber volumes from non-contrast computed tomography (CT) for predicting major adverse cardiovascular events (MACE) has not been studied. Our objective was to evaluate the role of artificial intelligence-enabled multi-chamber cardiac volumetry from non-contrast CT for long-term risk stratification in asymptomatic subjects without known coronary artery disease.
Methods: Our study included 2022 asymptomatic individuals (55.
A semi-supervised deep neuro-fuzzy iterative learning system for automatic segmentation of hippocampus brain MRI.
Math Biosci Eng
December 2024
Department of Electronics and Communication Engineering, Akshaya College of Engineering and Technology, Coimbatore, Tamil Nadu, India.
The hippocampus is a small, yet intricate seahorse-shaped tiny structure located deep within the brain's medial temporal lobe. It is a crucial component of the limbic system, which is responsible for regulating emotions, memory, and spatial navigation. This research focuses on automatic hippocampus segmentation from Magnetic Resonance (MR) images of a human head with high accuracy and fewer false positive and false negative rates.
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