{"id":"W2123869309","doi":"10.1161/circresaha.111.248161","title":"Exome Sequencing Identifies <i>SMAD3</i> Mutations as a Cause of Familial Thoracic Aortic Aneurysm and Dissection With Intracranial and Other Arterial Aneurysms","year":2011,"lang":"en","type":"article","venue":"Circulation Research","topic":"Connective tissue disorders research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":293,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Calgary; University of Alberta; University of British Columbia","funders":"National Center for Research Resources; National Heart, Lung, and Blood Institute","keywords":"Medicine; Exome sequencing; Thoracic aortic aneurysm; Proband; Exome; Aneurysm; Mutation; Aortic dissection; Internal medicine; Aortic aneurysm; Genetics; Gene; Aorta; Biology; Surgery","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":[0.0002257088,0.0005720374,0.0002270455,0.0008645526,0.0004848035,0.000361036,0.0002588187,0.0008448392,0.001293666],"category_scores_gemma":[0.0007102875,0.0001385189,0.0003029607,0.0004885661,0.0002833958,0.0001225108,0.0003018827,0.0003381744,0.0002758969],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002950952,"about_ca_system_score_gemma":0.0001491242,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001683267,"about_ca_topic_score_gemma":0.002826977,"domain_scores_codex":[0.9998159,0.00002006489,0.00003107109,0.0000570118,0.00004857707,0.00002738839],"domain_scores_gemma":[0.9997359,0.0001093213,0.00007080593,0.00001442535,0.00002740731,0.00004213331],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.001640757,0.0003041086,0.3406604,0.0002620398,0.0003257305,0.2214583,0.00144521,0.00122655,0.3998964,0.0005545695,0.00357805,0.02864796],"study_design_scores_gemma":[0.000157466,0.0003605935,0.6794021,0.0001128944,0.0004346186,0.2429382,0.000523217,0.003374941,0.06598389,0.0004731752,0.006194083,0.0000447973],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9977478,0.0002320556,0.0005389643,0.0001054298,0.00001246694,0.00001508934,0.000447733,0.00002560945,0.0008746737],"genre_scores_gemma":[0.9976738,0.0002317976,0.001008269,0.0001501501,0.00002241624,0.00001025159,0.0005401312,0.00001024943,0.0003529435],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001683267,"threshold_uncertainty_score":0.004327714,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.08363511964493889,"score_gpt":0.3662325206280551,"score_spread":0.2825974009831161,"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."}}