{"id":"W1572175163","doi":"10.1016/j.ajhg.2015.04.021","title":"Recessive Osteogenesis Imperfecta Caused by Missense Mutations in SPARC","year":2015,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Connective tissue disorders research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":137,"is_retracted":false,"has_abstract":false,"ca_institutions":"SickKids Foundation; Shriners Hospitals for Children - Canada; Hospital for Sick Children; McGill University and Génome Québec Innovation Centre; University of Toronto","funders":"Fonds de Recherche du Québec - Santé; Canadian Institutes of Health Research; Scheme for Promotion of Academic and Research Collaboration; Canada Research Chairs; McGill University","keywords":"Osteogenesis imperfecta; Missense mutation; Genetics; Mutation; Medicine; Biology; Gene; Anatomy","routes":{"ca_aff":true,"ca_fund":true,"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":[],"consensus_categories":[],"category_scores_codex":[0.0004702853,0.0001211417,0.0002122912,0.00009746672,0.00006798381,0.00002460591,0.00038251,0.00003085272,0.00001800297],"category_scores_gemma":[0.0002288166,0.00009539985,0.000071733,0.0002429444,0.0003589194,0.000003066776,0.00008837094,0.0001580385,0.000005148313],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004079003,"about_ca_system_score_gemma":0.0001986688,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00007973755,"about_ca_topic_score_gemma":0.00017914,"domain_scores_codex":[0.9987209,0.0003474939,0.0002955669,0.0001478544,0.0002562254,0.0002319651],"domain_scores_gemma":[0.9988535,0.00004839468,0.0003079796,0.0002834963,0.0003658157,0.0001408028],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0002027451,0.00009811954,0.01037147,0.000003446894,0.00009432073,0.00003478476,0.001055932,0.0004648541,0.972521,0.000004315852,0.004818247,0.01033074],"study_design_scores_gemma":[0.005263068,0.01462999,0.04508074,0.00006321375,0.0001828059,0.0005733064,0.02607222,0.0002003649,0.8875863,0.001347267,0.01808179,0.0009189353],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9958655,0.003062679,0.0001477245,0.0005826119,0.00003933866,0.0001170526,0.00001121212,0.000001856161,0.0001720878],"genre_scores_gemma":[0.9990867,0.000307288,0.0001542092,0.0001174594,0.0001107994,0.000004848764,0.00001512641,0.00002485029,0.0001786752],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.08493472,"threshold_uncertainty_score":0.3890293,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02685794414365264,"score_gpt":0.33417293902458,"score_spread":0.3073149948809274,"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."}}