Linking rare and common disease: mapping clinical disease-phenotypes to ontologies in therapeutic target validation - Sarntivijai, Sirarat; Vasant, Drashtti; Jupp, Simon; Saunders, Gary; Bento, A. Patrícia; Gonzalez, Daniel; Betts, Joanna; Hasan, Samiul; Koscielny, Gautier; Dunham, Ian; Parkinson, Helen; Malone, James (Journal of biomedical semantics, 2016)
Keywords: Annotations; Bioinformatics; Biological Ontologies; Data Mining; Databases, Factual; Dictionaries; Disease; Gene expression; Humans; Inflammatory Bowel Diseases - drug therapy; Inheritances; Metabolic disorders; Molecular Targeted Therapy; Myopia; Ontology; Phenotype; Rare Diseases - drug therapy; Reproducibility of Results; Phenotype disease associations; OBAN; CTTV; Rare disease; EFO