Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1097/WNO.0000000000002257 | DOI Listing |
PLoS One
December 2024
Department of Computer Science, University of Colorado Boulder, Boulder, CO, United States of America.
Rare diseases affect 1-in-10 people in the United States and despite increased genetic testing, up to half never receive a diagnosis. Even when using advanced genome sequencing platforms to discover variants, if there is no connection between the variants found in the patient's genome and their phenotypes in the literature, then the patient will remain undiagnosed. When a direct variant-phenotype connection is not known, putting a patient's information in the larger context of phenotype relationships and protein-protein interactions may provide an opportunity to find an indirect explanation.
View Article and Find Full Text PDFVirology
December 2024
Division of Microbiology, Faculty of Medicine, Tohoku Medical and Pharmaceutical University, Sendai, Miyagi, Japan. Electronic address:
More than 95% of adult humans worldwide are latently infected with Epstein-Barr virus (EBV). Recent studies indicated that different EBV strains colonize different regions of Asia, where nasopharyngeal carcinoma (NPC) is endemic (southern China) or non-endemic (Japan/Korea). We searched for viral single nucleotide variant markers throughout the EBV genome by comparing the coding sequences of Japanese/Korean and NPC-endemic Chinese strains.
View Article and Find Full Text PDFInt J Med Inform
December 2024
Adelaide Dental School, University of Adelaide, Adelaide, SA5000, Australia; Research and Innovations, Dental Loop Pty Ltd, Adelaide, SA5000, Australia. Electronic address:
Background: The automated segmentation of individual teeth from 3D models of the human dental arch is challenging due to variations in tooth alignment, arch form and overall maxillofacial anatomy. Domain adaptation is a specialised technique in deep learning which allows models to adapt to data from different domains, such as varying tooth and dental arch forms, without requiring human annotations.
Purpose: This study aimed to segment individual teeth from various dental arch morphologies in 3D intraoral scans using domain adaptation.
Neural Netw
December 2024
College of Science, Shantou University, Shantou 515063, China. Electronic address:
Graph Out-of-Distribution (OOD), requiring that models trained on biased data generalize to the unseen test data, has considerable real-world applications. One of the most mainstream methods is to extract the invariant subgraph by aligning the original and augmented data with the help of environment augmentation. However, these solutions might lead to the loss or redundancy of semantic subgraphs and result in suboptimal generalization.
View Article and Find Full Text PDFSignal Transduct Target Ther
December 2024
School of Basic Medical Science, Tsinghua University, 30 Shuangqing Rd., Haidian District, Beijing, 100084, China.
Modeling and predicting mutations are critical for COVID-19 and similar pandemic preparedness. However, existing predictive models have yet to integrate the regularity and randomness of viral mutations with minimal data requirements. Here, we develop a non-demanding language model utilizing both regularity and randomness to predict candidate SARS-CoV-2 variants and mutations that might prevail.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!