{"id":"W2036493847","doi":"10.1016/j.ymgme.2014.03.011","title":"The spectrum of FBN1, TGFβR1, TGFβR2 and ACTA2 variants in 594 individuals with suspected Marfan Syndrome, Loeys–Dietz Syndrome or Thoracic Aortic Aneurysms and Dissections (TAAD)","year":2014,"lang":"en","type":"article","venue":"Molecular Genetics and Metabolism","topic":"Connective tissue disorders research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":61,"is_retracted":false,"has_abstract":false,"ca_institutions":"Mount Sinai Hospital; Ontario Institute for Cancer Research; University of Toronto","funders":"","keywords":"Marfan syndrome; Medicine; Transforming growth factor; Thoracic aortic aneurysm; Aortic aneurysm; Internal medicine; Aorta","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":[0.0002927425,0.0009466796,0.0005199203,0.002046717,0.0009690925,0.0004252598,0.0004548567,0.0008520558,0.004762119],"category_scores_gemma":[0.001538445,0.0005085822,0.0006562612,0.001290839,0.0006033404,0.0003196372,0.0005844953,0.0004148423,0.0005557082],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002368052,"about_ca_system_score_gemma":0.0001927359,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004426221,"about_ca_topic_score_gemma":0.002854157,"domain_scores_codex":[0.9993199,0.0001139052,0.0001221032,0.00024133,0.0001094354,0.00009334104],"domain_scores_gemma":[0.999388,0.0002862203,0.0001414958,0.00003767004,0.00003915779,0.0001073605],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001453636,0.0001052868,0.9675871,0.00003992407,0.0001788858,0.01382962,0.0009452026,0.0001838523,0.01110992,0.0001734226,0.0001755459,0.004217529],"study_design_scores_gemma":[0.00006555438,0.0003625299,0.9698388,0.00003887659,0.0002762703,0.02613119,0.0006449606,0.0004214499,0.001350196,0.0001657583,0.0006789831,0.00002542766],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9990711,0.0001886685,0.00009303913,0.00001827822,0.000005371262,0.000004165607,0.00021612,0.000003559395,0.0003997335],"genre_scores_gemma":[0.9993483,0.00007914638,0.0001049475,0.00001933958,0.000006109356,0.000005579974,0.000193147,0.000005211579,0.0002382917],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004762119,"threshold_uncertainty_score":0.01593083,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007006951068104156,"score_gpt":0.2645311303106715,"score_spread":0.2575241792425674,"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."}}