{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004271367,0.003660596,0.001265621,0.001553647,0.001193676,0.0004728916,0.001040395,0.002668595,0.004441899],"category_scores_gemma":[0.001560997,0.0006079507,0.001189086,0.0009952958,0.001961326,0.000313432,0.0009983364,0.001057235,0.001016615],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007277806,"about_ca_system_score_gemma":0.0009992927,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004015492,"about_ca_topic_score_gemma":0.004596985,"domain_scores_codex":[0.9993514,0.00008379943,0.0001039278,0.0001518513,0.0001879093,0.0001211482],"domain_scores_gemma":[0.9986537,0.0004431587,0.0004056835,0.00007167387,0.00008435264,0.0003413133],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.000816194,0.0001279545,0.007220433,0.0001668572,0.0002079472,0.8361695,0.0003187098,0.0006667658,0.146255,0.002089279,0.001299256,0.004661968],"study_design_scores_gemma":[0.0004017451,0.0005512654,0.0406934,0.00006829259,0.0004836289,0.9177268,0.0002883405,0.002744056,0.03032744,0.001423142,0.005200136,0.00009186136],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9827579,0.001606303,0.004159762,0.001213958,0.0005688253,0.0001168017,0.001435904,0.0004175453,0.007723116],"genre_scores_gemma":[0.9936317,0.000338055,0.002413142,0.0003041826,0.0001984552,0.00002308728,0.0002976544,0.00009342132,0.002700272],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004441899,"threshold_uncertainty_score":0.01485962,"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."}}