Table 1 Results from the automatic mapping of GWAS phenotypes to relevant human-related vocabularies in BioPortal
From: Semantically enabling a genome-wide association study database
Vocabulary | Number of mappings | Coverage of GWAS Central phenotypes | Number of unique mappings | Unique coverage of the total automatic mappings made | ||||
|---|---|---|---|---|---|---|---|---|
Exact | Partial | Exact | Partial | Exact | Partial | Exact | Partial | |
Human Disease Ontology (DO) | 113 | 146 | 10.8% | 14.0% | 3 | 1 | 0.9% | 0.2% |
Human Phenotype Ontology (HPO) | 73 | 140 | 7.0% | 13.4% | 16 | 30 | 4.8% | 6.9% |
International Classification of Diseases (ICD10) | 39 | 81 | 3.7% | 7.7% | 0 | 0 | 0% | 0% |
Medical Subject Headings (MeSH) | 213 | 256 | 20.4% | 24.5% | 51 | 29 | 15.4% | 6.7% |
Systematized Nomenclature of Medicine Clinical Terms (SNOMED CT) | 220 | 291 | 21.0% | 27.8% | 33 | 53 | 9.9% | 12.2% |