Rare disease knowledge enrichment through a data-driven approach - Shen, Feichen; Zhao, Yiqing; Wang, Liwei; Mojarad, Majid Rastegar; Wang, Yanshan; Liu, Sijia; Liu, Hongfang (BMC medical informatics and decision making, 2019)
Keywords: Algorithms; Bioinformatics; Care and treatment; Clinical decision-making; Data Mining; Data processing; Data-driven approach; Diagnosis; Diagnostic equipment (Medical); Diagnostic software; Diagnostic systems; Differential diagnosis; Electronic Health Records; Electronic medical records; Electronic records; Encyclopedias; Enrichment; Genes; Genotype & phenotype; Graphs; Health Informatics; Hodgkin's lymphoma; Humans; Information Systems and Communication Service; International conferences; Knowledge Bases; Knowledge bases (artificial intelligence); Knowledge discovery; Knowledge enrichment; knowledge support systems; Lymphoma; Lymphomas; Management of Computing and Information Systems; Medical diagnosis; Medical records; Medicine; Medicine & Public Health; Mining; Mining industry; Ontology; Phenotype; Phenotypes; Professional associations; Rare disease; Rare diseases; Rare Diseases - diagnosis; Research Article; theory; Tumors; Web Ontology Language-OWL; Differential diagnosis; Data-driven approach; Rare disease; Knowledge enrichment