Linking rare and common disease: Mapping clinical disease-phenotypes to ontologies in therapeutic target validation

Journal of Biomedical Semantics

Volumn 7, Issue 1, 2016, Pages

  Sarntivijai, Sirarat ^a   Vasant, Drashtti ^a   Jupp, Simon ^a   Saunders, Gary ^a   Bento, A Patrícia ^a   Gonzalez, Daniel ^a   Betts, Joanna ^a,b   Hasan, Samiul ^a,b   Koscielny, Gautier ^a,b   Dunham, Ian ^a   Parkinson, Helen ^a   Malone, James ^a  

^a WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^b GLAXOSMITHKLINE   (United Kingdom)

Author keywords

CTTV; EFO; OBAN; Phenotype disease associations; Rare disease

Indexed keywords

BIOLOGICAL ONTOLOGY; DATA MINING; FACTUAL DATABASE; HUMAN; INFLAMMATORY BOWEL DISEASES; MOLECULARLY TARGETED THERAPY; PHENOTYPE; RARE DISEASES; REPRODUCIBILITY;

BIOLOGICAL ONTOLOGIES; DATA MINING; DATABASES, FACTUAL; HUMANS; INFLAMMATORY BOWEL DISEASES; MOLECULAR TARGETED THERAPY; PHENOTYPE; RARE DISEASES; REPRODUCIBILITY OF RESULTS;

EID: 85008331158     PISSN: None     EISSN: 20411480     Source Type: Journal    
DOI: 10.1186/S13326-016-0051-7     Document Type: Article

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