{"id":"W2911446348","doi":"10.1186/s13023-018-0980-6","title":"An ontological foundation for ocular phenotypes and rare eye diseases","year":2019,"lang":"en","type":"letter","venue":"Orphanet Journal of Rare Diseases","topic":"Biomedical Text Mining and Ontologies","field":"Biochemistry, Genetics and Molecular Biology","cited_by":26,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Institutes of Health; Všeobecná Fakultní Nemocnice v Praze; Moorfields Eye Hospital NHS Foundation Trust; Uniwersytet Medyczny w Lublinie; Université de Lausanne; Hospital for Sick Children; Universiteit Gent; Newcastle University; Universiteit van Amsterdam; Institut National de la Santé et de la Recherche Médicale; Assistance publique-Hôpitaux de Paris; Leids Universitair Medisch Centrum; Universiteit Leiden; National Institute for Health and Care Research; Universitair Ziekenhuis Gent; Université de Montpellier; Ospedale Pediatrico Bambino Gesù; Hadassah Medical Organization; Universität Basel; European Commission; Eberhard Karls Universität Tübingen; Johns Hopkins University; Rigshospitalet; Cleveland Clinic; Johannes Gutenberg-Universität Mainz; Universidade de Coimbra; Univerzita Karlova v Praze","keywords":"Foundation (evidence); Phenotype; Human genetics; Genetics; Medicine; Optometry; Biology; Political science; Law; Gene","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0001124435,0.0003407461,0.0005683543,0.0001012315,0.00009870737,0.0001119163,0.0004171724,0.0006674229,0.00009275028],"category_scores_gemma":[0.0006084195,0.0002553687,0.0003132019,0.00004670423,0.0002529158,0.00001605936,0.00006827673,0.0003273199,0.000004788248],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002081479,"about_ca_system_score_gemma":0.0002495235,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000003298703,"about_ca_topic_score_gemma":0.000002164092,"domain_scores_codex":[0.9983159,0.0001755814,0.0004215391,0.0004294244,0.0003219128,0.000335659],"domain_scores_gemma":[0.9985754,0.0001416387,0.0004801524,0.0003411096,0.000273225,0.0001884352],"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":[0.0008692298,0.0002103624,0.009798922,0.0005577038,0.0004622275,0.0003929718,0.00002652282,0.00001144917,0.001538521,0.000008406802,0.9407935,0.04533021],"study_design_scores_gemma":[0.001182829,0.002137724,0.005656344,0.0001627408,0.000589008,0.000117158,0.00007817341,0.00002788055,0.000225826,0.000359373,0.9890379,0.0004249949],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.578943,0.1921984,0.01281707,0.2012795,0.005260465,0.002403335,0.006751645,0.0001703071,0.0001762838],"genre_scores_gemma":[0.5245988,0.006741459,0.01148363,0.3824432,0.04004141,0.0001589327,0.03055165,0.0003876203,0.003593356],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1854569,"threshold_uncertainty_score":0.9999899,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01480944008501579,"score_gpt":0.2842999911992212,"score_spread":0.2694905511142054,"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."}}