{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004356462,0.0004379667,0.0003550139,0.0006634191,0.0002106897,0.000385917,0.0002121761,0.0003278643,0.001834182],"category_scores_gemma":[0.001676023,0.0001441229,0.0002765204,0.0004815439,0.0003408257,0.0002412873,0.0003587469,0.000302985,0.0001152664],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000167857,"about_ca_system_score_gemma":0.0001285352,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004362878,"about_ca_topic_score_gemma":0.0005188771,"domain_scores_codex":[0.9994581,0.0001946172,0.00005379955,0.0001175793,0.0001041242,0.00007167211],"domain_scores_gemma":[0.9989043,0.0005002035,0.0004115751,0.00004674479,0.00003625704,0.0001009209],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003989136,0.00002319336,0.9921941,0.00001385627,0.0000738986,0.001040865,0.00008038464,0.0001133731,0.002982063,0.00004644677,0.00003162459,0.003001218],"study_design_scores_gemma":[0.000006948501,0.0001383855,0.9963856,0.000005686246,0.00003197359,0.002636312,0.00007523472,0.0001869524,0.0003872121,0.00004724895,0.00009474249,0.000003679326],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.999483,0.0002161565,0.00008894722,0.00001662174,0.000001853865,0.000001422231,0.00007240404,0.000002169487,0.0001173209],"genre_scores_gemma":[0.9996468,0.00007789332,0.0001300753,0.000008065796,0.000005616316,0.000003424049,0.00009037464,0.000002611879,0.00003514133],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001834182,"threshold_uncertainty_score":0.006135941,"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."}}