{"id":"W2895651297","doi":"10.14740/cr767w","title":"Holt-Oram Syndrome With Multiple Cardiac Abnormalities","year":2018,"lang":"en","type":"article","venue":"Cardiology Research","topic":"Congenital heart defects research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":24,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Medicine; Penetrance; Proband; Bicuspid aortic valve; Cardiology; Polydactyly; Internal medicine; Expressivity; Family history; Pediatrics; Anatomy; Mutation; Aortic valve; Genetics; Phenotype","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":true,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000106919,0.001168321,0.0005700013,0.001257437,0.0006184339,0.0005121964,0.0004679392,0.001273538,0.003873617],"category_scores_gemma":[0.001350175,0.0003206698,0.0003568851,0.0006532967,0.0006712203,0.0007632658,0.0008824474,0.0009532992,0.0005543982],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002692008,"about_ca_system_score_gemma":0.0003370648,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007557217,"about_ca_topic_score_gemma":0.001090312,"domain_scores_codex":[0.9997118,0.00002609784,0.00002615984,0.0000958332,0.0000565977,0.0000834526],"domain_scores_gemma":[0.9992944,0.0002301183,0.0001905816,0.00004051206,0.00003209815,0.0002122737],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0000343592,0.00001994071,0.01124106,0.00003871972,0.00001217015,0.9805686,0.0001328354,0.00004413286,0.003844195,0.000364491,0.0004653797,0.003234025],"study_design_scores_gemma":[0.00001153751,0.00003677797,0.01080668,0.00001612333,0.00001413985,0.9873755,0.00005010899,0.00009888124,0.000681926,0.000225744,0.0006747148,0.000007844565],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.973595,0.003630217,0.004054436,0.001128103,0.0002826965,0.00007511098,0.0003525826,0.0002983624,0.01658355],"genre_scores_gemma":[0.9947821,0.0007884055,0.001215674,0.0004085134,0.0002715974,0.00001378591,0.0001064573,0.00003264156,0.002380731],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003873617,"threshold_uncertainty_score":0.01295853,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04143560945592442,"score_gpt":0.350652457684936,"score_spread":0.3092168482290115,"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."}}