{"id":"W3168122188","doi":"10.1007/s11657-021-00943-4","title":"Diagnostic utility of next-generation sequence genetic panel testing in children presenting with a clinically significant fracture history","year":2021,"lang":"en","type":"article","venue":"Archives of Osteoporosis","topic":"Connective tissue disorders research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":7,"is_retracted":false,"has_abstract":false,"ca_institutions":"SickKids Foundation; University of Toronto; Hospital for Sick Children","funders":"","keywords":"Osteogenesis imperfecta; Medicine; Genetic testing; Family history; Retrospective cohort study; Internal medicine; Odds ratio; Medical history; Disease; Pediatrics; Pathology","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":[0.0004249889,0.0004772739,0.0002747827,0.001318956,0.0002917247,0.0005319339,0.0004205533,0.0009439587,0.001766684],"category_scores_gemma":[0.003827115,0.0002071516,0.0003314966,0.0005440022,0.0002772612,0.000337564,0.0002787162,0.0007195704,0.0003012079],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003724878,"about_ca_system_score_gemma":0.0005585095,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005633066,"about_ca_topic_score_gemma":0.006704829,"domain_scores_codex":[0.9996169,0.0001000254,0.00003654255,0.00006507881,0.0001039933,0.00007739814],"domain_scores_gemma":[0.9988518,0.0006956579,0.0001254568,0.00002990197,0.0001477173,0.0001494199],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002109389,0.00006000078,0.9734475,0.00002847066,0.00002178627,0.009880841,0.0001516848,0.0003845997,0.002001691,0.0001282121,0.0008300632,0.01285417],"study_design_scores_gemma":[0.00004319026,0.0006400589,0.905524,0.000195095,0.0001884033,0.07559887,0.001257599,0.008707304,0.004093192,0.0005230661,0.003202482,0.00002681511],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9928252,0.001646971,0.0006042091,0.0008845206,0.00004994542,0.0000174778,0.0004898717,0.00003975743,0.00344207],"genre_scores_gemma":[0.9979373,0.0004899421,0.001038851,0.0001477341,0.00003242065,0.000004709605,0.0001724268,0.000004963681,0.0001715149],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005633066,"threshold_uncertainty_score":0.01120055,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.07895058841548319,"score_gpt":0.2922297015723798,"score_spread":0.2132791131568966,"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."}}