Comput Biol Med 2021 Apr 1;133:104360. Epub 2021 Apr 1.
College of Medical and Dental Sciences, Institute of Cancer and Genomic Sciences, University of Birmingham, UK; Institute of Translational Medicine, University Hospitals Birmingham, NHS Foundation Trust, UK; NIHR Experimental Cancer Medicine Centre, UK; NIHR Surgical Reconstruction and Microbiology Research Centre, UK; NIHR Biomedical Research Centre, UK; MRC Health Data Research UK (HDR UK) Midlands, UK; University Hospitals Birmingham NHS Foundation Trust, Edgbaston, Birmingham, UK.
Ontology-based phenotype profiles have been utilised for the purpose of differential diagnosis of rare genetic diseases, and for decision support in specific disease domains. Particularly, semantic similarity facilitates diagnostic hypothesis generation through comparison with disease phenotype profiles. However, the approach has not been applied for differential diagnosis of common diseases, or generalised clinical diagnostics from uncurated text-derived phenotypes. Read More