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Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Nat Med
January 2025
Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
Genetic diagnosis of rare diseases requires accurate identification and interpretation of genomic variants. Clinical and molecular scientists from 37 expert centers across Europe created the Solve-Rare Diseases Consortium (Solve-RD) resource, encompassing clinical, pedigree and genomic rare-disease data (94.5% exomes, 5.
View Article and Find Full Text PDFDigital Age Transformation in Patient-Physician Communication: 25-Year Narrative Review (1999-2023).
J Med Internet Res
January 2025
University of Nebraska at Omaha, Omaha, NE, United States.
Background: The evolution of patient-physician communication has changed since the emergence of the World Wide Web. Health information technology (health IT) has become an influential tool, providing patients with access to a breadth of health information electronically. While such information has greatly facilitated communication between patients and physicians, it has also led to information overload and the potential for spreading misinformation.
View Article and Find Full Text PDFMultiTax-human: an extensive and high-resolution human-related full-length 16S rRNA reference database and taxonomy.
Microbiol Spectr
January 2025
State Key Laboratory for Diagnosis and Treatment of Infectious Diseases, National Clinical Research Center for Infectious Diseases, National Medical Center for Infectious Diseases, Collaborative Innovation Center for Diagnosis and Treatment of Infectious Diseases, The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China.
Considering that the human microbiota plays a critical role in health and disease, an accurate and high-resolution taxonomic classification is thus essential for meaningful microbiome analysis. In this study, we developed an automatic system, named MultiTax pipeline, for generating taxonomy from full-length 16S rRNA sequences using the Genome Taxonomy Database and other existing reference databases. We first constructed the MultiTax-human database, a high-resolution resource specifically designed for human microbiome research and clinical applications.
View Article and Find Full Text PDFSTDCformer: Spatial-temporal dual-path cross-attention model for fMRI-based autism spectrum disorder identification.
Heliyon
July 2024
College of Information Science and Engineering, Northeastern University, Shenyang 110819, China.
Resting-state functional magnetic resonance imaging (rs-fMRI) is a non-invasive neuroimaging technique widely utilized in the research of Autism Spectrum Disorder (ASD), providing preliminary insights into the potential biological mechanisms underlying ASD. Deep learning techniques have demonstrated significant potential in the analysis of rs-fMRI. However, accurately distinguishing between healthy control group and ASD has been a longstanding challenge.
View Article and Find Full Text PDFWith the increasing availability of high-quality genome assemblies, pangenome graphs emerged as a new paradigm in the genomics field for identifying, encoding, and presenting genomic variation at both population and species levels. However, it remains challenging to truly dissect and interpret pangenome graphs via biologically informative visualization. To facilitate better exploration and understanding of pangenome graphs towards novel biological insights, here we present a web-based interactive Visualization and interpretation framework for linear-Reference-projected Pangenome Graphs (VRPG).
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