Artificial Intelligence in Healthcare | Drug Discovery | Rare Diseases Artificial intelligence in drug repurposing for rare diseases: a mini-review. June 6, 2024
Clinical Genetics | Genetics Discordance between a deep learning model and clinical-grade variant pathogenicity classification in a rare disease cohort. June 3, 2024
Bioinformatics | Genetics | Precision Medicine GAiN: An integrative tool utilizing generative adversarial neural networks for augmented gene expression analysis. February 19, 2024
Bioinformatics | Genetics | Rare Diseases Artificial intelligence and database for NGS-based diagnosis in rare disease. February 19, 2024
Nephrology Performance and clinical utility of a new supervised machine-learning pipeline in detecting rare ciliopathy patients based on deep phenotyping from electronic health records and semantic similarity. February 9, 2024
Artificial Intelligence | Neurology | Rare Diseases Virtual hospital and artificial intelligence: a first step towards the application of an innovative health system for the care of rare cerebrovascular diseases. November 28, 2023
Internal Medicine | Nephrology | Rheumatology Comparison of machine learning methods in the early identification of vasculitides, myositides and glomerulonephritides. November 10, 2023
Dermatology | Genetics | Oncology Congenital Telangiectatic Erythema: Scoping Review. October 5, 2023
Bioinformatics | Medical Informatics | Radiology RDDL: A systematic ensemble pipeline tool that streamlines balancing training schemes to reduce the effects of data imbalance in rare-disease-related deep-learning applications. July 30, 2023
Genetics | Medical Informatics | Neurology The Impact of Artificial Intelligence in the Odyssey of Rare Diseases. March 29, 2023
Genetics | Neurology | Oncology | Rare Diseases Research Deep Learning for Rare Disease: A Scoping Review. October 18, 2022