{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004273796,0.0002788887,0.0005542493,0.001148971,0.0008480263,0.0005830814,0.000322748,0.0003979755,0.001266542],"category_scores_gemma":[0.001102894,0.000214001,0.0003959613,0.000641036,0.000247211,0.0001001949,0.0004678225,0.0003613858,0.0002797919],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001433781,"about_ca_system_score_gemma":0.0002780967,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001833274,"about_ca_topic_score_gemma":0.003128991,"domain_scores_codex":[0.9995284,0.00006735802,0.00005030043,0.00020324,0.00009024113,0.00006049046],"domain_scores_gemma":[0.9995217,0.0001376287,0.00008767491,0.00005566009,0.00006981646,0.0001274856],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0007636093,0.0001526284,0.9412261,0.0000583051,0.0002034027,0.00705545,0.0006905886,0.000187749,0.04256629,0.0001162121,0.0006126459,0.006367087],"study_design_scores_gemma":[0.00004327564,0.0002188946,0.9857795,0.00001671717,0.0001599644,0.009430486,0.0004386063,0.0005378101,0.001995878,0.0000634138,0.001299509,0.00001597617],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9992427,0.0001233328,0.0002160203,0.00001652515,0.000005954616,0.0000106112,0.0002689195,0.000004832931,0.0001110866],"genre_scores_gemma":[0.9978416,0.0001488977,0.000628866,0.00006213744,0.00002040353,0.00002641133,0.001007957,0.00001057026,0.0002531191],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001833274,"threshold_uncertainty_score":0.004236996,"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."}}