{"id":"W4388616071","doi":"10.1093/nar/gkad1005","title":"The Human Phenotype Ontology in 2024: phenotypes around the world","year":2023,"lang":"en","type":"article","venue":"Nucleic Acids Research","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":375,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Centre for Addiction and Mental Health; University of British Columbia; University of Toronto; Dalhousie University; Shriners Hospitals for Children - Canada; Simon Fraser University","funders":"National Institute of Dental and Craniofacial Research; National Institute of Child Health and Human Development; National Institute of Arthritis and Musculoskeletal and Skin Diseases; National Institute of Neurological Disorders and Stroke; National Institute of Mental Health; U.S. National Library of Medicine; Defense Advanced Research Projects Agency; McCusker Charitable Foundation; National Institutes of Health; Deutsche Forschungsgemeinschaft; Angela Wright Bennett Foundation; Berlin Institute of Health; National Center for Advancing Translational Sciences; National Human Genome Research Institute; Wellcome Trust; National Cancer Institute; British Heart Foundation; National Institute on Aging; Horizon 2020 Framework Programme; Eunice Kennedy Shriver National Institute of Child Health and Human Development; U.S. Department of Energy","keywords":"Ontology; Clinical phenotype; Biology; Inference; Phenotype; Data science; Disease; Analytics; Computer science; Computational biology; Bioinformatics; Artificial intelligence; Gene; Genetics; Medicine; Pathology","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.002407877,0.001172698,0.0006199625,0.006723932,0.001384613,0.003000858,0.001289008,0.001895045,0.01657821],"category_scores_gemma":[0.006433894,0.0005936213,0.001568527,0.009112913,0.00107553,0.00540037,0.003931637,0.002578529,0.007962895],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.002547484,"about_ca_system_score_gemma":0.006415896,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.02664302,"about_ca_topic_score_gemma":0.02109572,"domain_scores_codex":[0.9984724,0.0004040085,0.0003292067,0.0002753806,0.0003903311,0.0001286632],"domain_scores_gemma":[0.9974211,0.001027289,0.0002916683,0.0004568181,0.0005356166,0.0002673955],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0002092382,0.00007703581,0.005048977,0.002196874,0.0001003429,0.001084012,0.002487812,0.003017695,0.002761546,0.3114771,0.5499159,0.1216236],"study_design_scores_gemma":[0.00001876968,0.000009180077,0.001711272,0.0003484089,0.00002301535,0.0004237587,0.0003109307,0.0008950795,0.0002798548,0.02566892,0.9702845,0.00002634247],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"dataset","genre_gemma":"methods","genre_scores_codex":[0.01139532,0.004784405,0.300927,0.01386804,0.0030542,0.001175521,0.5235079,0.01990604,0.1213817],"genre_scores_gemma":[0.047146,0.008965795,0.2673992,0.006352501,0.0005856119,0.002124674,0.6413373,0.004211997,0.02187694],"genre_candidate":"methods","genre_consensus":null,"teacher_disagreement_score":0.02664302,"threshold_uncertainty_score":0.05545968,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04171781329928882,"score_gpt":0.357094743870022,"score_spread":0.3153769305707332,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}