Bioinformatics | Medical Informatics Enriching UMLS-Based Phenotyping of Rare Diseases Using Deep-Learning: Evaluation on Jeune Syndrome. May 25, 2022
Clinical Pharmacology | Neurology Clinical Pharmacology in Drug Development for Rare Diseases in Neurology: Contributions and Opportunities. December 3, 2021
Epigenetics | Genetics | Rare Diseases Artificial Intelligence in Epigenetic Studies: Shedding Light on Rare Diseases. May 24, 2021
Intelligent Healthcare Multi-task Learning via Adaptation to Similar Tasks for Mortality Prediction of Diverse Rare Diseases. May 3, 2021
Ophthalmology Feasibility study to improve deep learning in OCT diagnosis of rare retinal diseases with few-shot classification. January 25, 2021
Machine Learning | Medical Informatics | Rare Diseases Improving rare disease classification using imperfect knowledge graph. December 5, 2019
Bioinformatics | Genetics | Rare Diseases Artificial Intelligence (AI) in Rare Diseases: Is the Future Brighter? November 30, 2019
Bioinformatics | Genetics | Rare Diseases Toward Clinical Implementation of Next-Generation Sequencing-Based Genetic Testing in Rare Diseases: Where Are We? October 18, 2019
Biomedical Informatics | Neurology | Rare Diseases Deep neural models for extracting entities and relationships in the new RDD corpus relating disabilities and rare diseases. January 7, 2019