{"id":"W4390246216","doi":"10.1016/j.cjcpc.2023.12.003","title":"Impact of Genotype-Phenotype Interactions on Cardiovascular Function in Paediatric Loeys-Dietz Syndrome","year":2023,"lang":"en","type":"article","venue":"CJC Pediatric and Congenital Heart Disease","topic":"Connective tissue disorders research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children; University of Toronto","funders":"Hospital for Sick Children; University of Toronto; Heart and Stroke Foundation of Canada","keywords":"Phenotype; Genotype; Medicine; Genotype-phenotype distinction; Genetics; Biology; 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":[0.0001700395,0.0001584225,0.0002105692,0.0003268822,0.00006491825,0.00001483691,0.00008330042,0.00007178992,0.00004882248],"category_scores_gemma":[0.0002209019,0.0001554926,0.0002532231,0.0007853584,0.00005023839,0.00001102599,0.0001117872,0.0001301637,0.0001029414],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003080761,"about_ca_system_score_gemma":0.0001992266,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001364739,"about_ca_topic_score_gemma":0.00002340793,"domain_scores_codex":[0.9988233,0.0001022731,0.0001832056,0.0003855528,0.000211866,0.0002937441],"domain_scores_gemma":[0.9992712,0.00004822836,0.00003013318,0.0003177957,0.000122421,0.0002102645],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001631693,0.0003533105,0.984143,0.00013352,0.0003583674,0.00009613822,0.00006011165,0.001047909,0.001711557,0.00001979544,0.002549548,0.007895026],"study_design_scores_gemma":[0.0007686144,0.0006100994,0.9973885,0.00000307712,0.0001248042,0.000005980934,0.00005572053,0.0001839029,0.00001877465,0.00009395515,0.0005710723,0.0001755155],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9903734,0.008821772,0.00004171143,0.00003638226,0.0001197684,0.0003042461,0.0000896877,0.00002103079,0.0001919868],"genre_scores_gemma":[0.9986091,0.0006851113,0.000004449692,0.00001939683,0.0001948533,0.00005486517,0.0001520356,0.00002465342,0.0002555802],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01324546,"threshold_uncertainty_score":0.6340803,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01403473254717168,"score_gpt":0.2857643286955616,"score_spread":0.2717295961483899,"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."}}