{"id":"W3087202197","doi":"10.1161/atvbaha.119.313885","title":"A Novel Recurrent <i>COL5A1</i> Genetic Variant Is Associated With a Dysplasia-Associated Arterial Disease Exhibiting Dissections and Fibromuscular Dysplasia","year":2020,"lang":"en","type":"article","venue":"Arteriosclerosis Thrombosis and Vascular Biology","topic":"Cell Adhesion Molecules Research","field":"Medicine","cited_by":48,"is_retracted":false,"has_abstract":true,"ca_institutions":"St. Stephen's University; Centre Hospitalier Universitaire Sainte-Justine; Montreal Heart Institute; University of Ottawa; McGill Genome Centre; McGill University; Children's Hospital of Eastern Ontario","funders":"National Center for Research Resources; National Center for Advancing Translational Sciences; National Institute of Arthritis and Musculoskeletal and Skin Diseases; University of Michigan; National Heart, Lung, and Blood Institute; Doris Duke Charitable Foundation","keywords":"Proband; Ehlers–Danlos syndrome; Fibromuscular dysplasia; Haplotype; Arterial dissection; Medicine; In silico; Cohort; Exome sequencing; Phenotype; Pathology; Internal medicine; Genetics; Gastroenterology; Genotype; Biology; Gene; Dissection (medical); Radiology; Mutation","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":[0.0001655475,0.001015326,0.0002820975,0.00088914,0.0005961464,0.0002715137,0.0003644132,0.0008658296,0.002454446],"category_scores_gemma":[0.0008998459,0.0002357986,0.0003768853,0.0006076687,0.0005988551,0.0001135057,0.0003058267,0.0004240723,0.0003265649],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002544576,"about_ca_system_score_gemma":0.0001985228,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002489188,"about_ca_topic_score_gemma":0.002559599,"domain_scores_codex":[0.9997652,0.0000317739,0.00002556209,0.00009637302,0.00003902104,0.00004211021],"domain_scores_gemma":[0.9994795,0.0001332195,0.0002182187,0.0000249294,0.00002973901,0.0001143],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001485668,0.000338935,0.5699378,0.0001206801,0.0003232759,0.2321446,0.0007775551,0.0006150776,0.183037,0.0005224915,0.001146325,0.009550661],"study_design_scores_gemma":[0.0001088333,0.0008845294,0.7008872,0.00003977419,0.0001920239,0.288346,0.0002003497,0.001265457,0.006914823,0.0001679446,0.0009616775,0.0000313593],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9991742,0.00007542161,0.0002447207,0.00004207062,0.000007042216,0.00001016598,0.00008030686,0.00001605745,0.0003498993],"genre_scores_gemma":[0.9992545,0.00002614833,0.0004214531,0.00002889989,0.00001826987,0.000004416268,0.00007432558,0.00000538,0.0001666241],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002489188,"threshold_uncertainty_score":0.008210957,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03824190711570474,"score_gpt":0.2768276473251201,"score_spread":0.2385857402094154,"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."}}