{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001681469,0.0001932779,0.0003988711,0.000210293,0.0003994369,0.00005721736,0.0004598848,0.0003044333,0.00005914745],"category_scores_gemma":[0.000522452,0.0001613898,0.000143444,0.0004022016,0.002054155,0.000008301857,0.0006053644,0.0004913756,0.0005410562],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004581814,"about_ca_system_score_gemma":0.0003295312,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00008484091,"about_ca_topic_score_gemma":0.00007377181,"domain_scores_codex":[0.9966248,0.0009172045,0.0001719635,0.0006726649,0.0005144738,0.0010989],"domain_scores_gemma":[0.9976152,0.0001896015,0.00001984661,0.0009707832,0.0009526835,0.0002519005],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00218546,0.0001010408,0.5464635,0.0001722116,0.001449415,0.001288049,0.0003158274,0.0000268211,0.3876033,0.0004332867,0.05048143,0.009479627],"study_design_scores_gemma":[0.002137776,0.0123215,0.2105569,0.00005740374,0.00004902912,0.003112013,0.001315095,0.0000839902,0.1360934,0.0002541365,0.6329798,0.001039027],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9764257,0.001502763,0.0001307992,0.0001371093,0.0001874635,0.0005238803,0.00005405216,0.00003213714,0.02100611],"genre_scores_gemma":[0.9918484,0.0001405625,0.0001507804,0.00004199949,0.0009194628,0.0001806466,0.00009400189,0.00004917369,0.006574956],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5824983,"threshold_uncertainty_score":0.756862,"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."}}