{"id":"W4286005757","doi":"10.1136/jmedgenet-2021-108366","title":"Refining nosology by modelling variation among facial phenotypes: the RASopathies","year":2022,"lang":"en","type":"article","venue":"Journal of Medical Genetics","topic":"Protein Tyrosine Phosphatases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":10,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Calgary","funders":"National Institute of Dental and Craniofacial Research; Vlaamse regering; Onderzoeksraad, KU Leuven; KU Leuven; Fonds Wetenschappelijk Onderzoek; National Institutes of Health; Universiteit van Amsterdam; University of Ottawa","keywords":"Phenotype; Noonan syndrome; Nosology; Neurofibromatosis; Genetics; Variation (astronomy); Biology; Clinical phenotype; Pathology; Medicine; Gene","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001207686,0.00009871059,0.0001471083,0.00003043361,0.0002051733,0.0000196791,0.0005570092,0.000116919,0.0001232106],"category_scores_gemma":[0.000398065,0.0000747877,0.00008066351,0.00008428792,0.0001261378,0.000003297063,0.0002956475,0.0004314882,0.00000119526],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002140857,"about_ca_system_score_gemma":0.0002194035,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002222367,"about_ca_topic_score_gemma":0.000005424476,"domain_scores_codex":[0.9982782,0.0002237461,0.0004042118,0.0001325111,0.0007808391,0.0001805179],"domain_scores_gemma":[0.9992468,0.00005159295,0.000334956,0.0001721494,0.00008885799,0.0001056025],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"simulation_or_modeling","study_design_gemma":"not_applicable","study_design_scores_codex":[0.001699604,0.0009857722,0.01547636,0.00009476156,0.001005313,0.0002716861,0.002514481,0.4307017,0.255025,0.003571505,0.1595177,0.1291361],"study_design_scores_gemma":[0.004416589,0.004264191,0.002333594,0.00007572979,0.000305425,0.0008950267,0.001004377,0.05166503,0.2180373,0.002302045,0.7139101,0.0007906063],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.7977787,0.04472072,0.1530593,0.003007309,0.001190009,0.0001079445,0.00005430976,0.000006662475,0.00007508129],"genre_scores_gemma":[0.9957487,0.001010538,0.001624335,0.0008130564,0.0006719008,0.000009344888,0.00003550137,0.00001699036,0.00006964989],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5543925,"threshold_uncertainty_score":0.3049754,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01147240476087463,"score_gpt":0.2444035035123701,"score_spread":0.2329310987514955,"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."}}