{"id":"W2626827998","doi":"10.3389/fphys.2017.00400","title":"Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor","year":2017,"lang":"en","type":"article","venue":"Frontiers in Physiology","topic":"Aortic Disease and Treatment Approaches","field":"Medicine","cited_by":109,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; SickKids Foundation; Centre Hospitalier Universitaire Sainte-Justine","funders":"European Research Council; Agentschap voor Innovatie door Wetenschap en Technologie; Fonds Wetenschappelijk Onderzoek; Fondation Leducq; Vlaamse regering; Universiteit Antwerpen","keywords":"Bicuspid aortic valve; Thoracic aortic aneurysm; Cardiology; Aortic aneurysm; Internal medicine; Medicine; Candidate gene; Aneurysm; Aortic valve; Gene; Aorta; Radiology; Genetics; Biology","routes":{"ca_aff":true,"ca_fund":false,"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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0005668416,0.000353805,0.001046482,0.000270045,0.0002455507,0.00004689657,0.000322442,0.0002758639,0.00006184544],"category_scores_gemma":[0.0006919254,0.0003061088,0.0001925725,0.0001985081,0.0002698203,0.000283963,0.0001216726,0.0003786733,0.00002165349],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004389718,"about_ca_system_score_gemma":0.0003861283,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001558124,"about_ca_topic_score_gemma":0.0006225444,"domain_scores_codex":[0.9970524,0.0002351153,0.0007064066,0.0007663352,0.0002597745,0.0009800053],"domain_scores_gemma":[0.9980364,0.00004006493,0.0004804016,0.001046491,0.00008305543,0.0003136225],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0007884165,0.0009912583,0.9878908,0.0000492611,0.0004261798,0.001050339,0.0003227627,0.00000462355,0.007446331,0.00007910464,0.0002938462,0.0006571001],"study_design_scores_gemma":[0.003775749,0.0004738511,0.9834619,0.0001068433,0.0004278613,0.00002429758,0.0002928244,0.004362638,0.001955511,0.004788683,0.00002741939,0.0003024685],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9968726,0.0009124369,0.00002489538,0.0002521721,0.0004814554,0.0009751816,0.00008121135,0.00007410884,0.0003259423],"genre_scores_gemma":[0.9978544,0.000309904,0.0003121829,0.00030457,0.0001141797,0.0002055973,0.0005953297,0.00004967783,0.0002542363],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00549082,"threshold_uncertainty_score":0.9999391,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01731130221374497,"score_gpt":0.30871467391977,"score_spread":0.291403371706025,"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."}}