Diagnosis support systems for rare diseases: a scoping review - Faviez, Carole; Chen, Xiaoyi; Garcelon, Nicolas; Neuraz, Antoine; Knebelmann, Bertrand; Salomon, Rémi; Lyonnet, Stanislas; Saunier, Sophie; Burgun, Anita (Orphanet journal of rare diseases, 2020)
Keywords: Algorithms; Analysis; Artificial Intelligence; Bibliographic literature; Bioengineering; Clinical decision making; Clinical decision support; Computer Science; Cystic fibrosis; Data mining; Decision making; Diagnosis; Disease; Genetic diseases; Human Genetics; Humans; Knowledge; Learning algorithms; Life Sciences; Machine Learning; Medical diagnosis; Medical prognosis; Medical research; Medicine; Medicine & Public Health; Metadata; Objectives; Other; Pharmacology/Toxicology; Phenotypes; Rare disease; Rare diseases; Rare Diseases - diagnosis; Reproducibility of Results; Review; Reviews; Scoping review; Search strategies; Websites; Phenotype; Rare disease; Machine learning; Scoping review; Diagnosis; Clinical decision support; Genetic diseases; Patient similarity; Artificial intelligence