{"id":"W2489490822","doi":"10.1007/s00198-016-3709-1","title":"DNA sequence analysis in 598 individuals with a clinical diagnosis of osteogenesis imperfecta: diagnostic yield and mutation spectrum","year":2016,"lang":"en","type":"article","venue":"Osteoporosis International","topic":"Connective tissue disorders research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":155,"is_retracted":false,"has_abstract":false,"ca_institutions":"Shriners Hospitals for Children - Canada; McGill University; Montreal Children's Hospital","funders":"Fonds de Recherche du Québec - Santé; Association for Molecular Pathology","keywords":"Medicine; Osteogenesis imperfecta; Rheumatology; Mutation; Yield (engineering); Orthopedic surgery; DNA sequencing; Internal medicine; Genetics; DNA; Pathology; Surgery; Gene; Biology","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":[0.0002054006,0.0004608999,0.0003823899,0.002092301,0.0006461589,0.0003010044,0.0002921637,0.0007892738,0.001791856],"category_scores_gemma":[0.002667849,0.0002523659,0.0002728467,0.0009262718,0.0004275699,0.0001442079,0.0002589668,0.0002578594,0.0003680128],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002039327,"about_ca_system_score_gemma":0.000274602,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004248805,"about_ca_topic_score_gemma":0.002791594,"domain_scores_codex":[0.9995043,0.0000730266,0.00007421057,0.000142717,0.0001471412,0.00005848761],"domain_scores_gemma":[0.9985192,0.0007551622,0.0002130184,0.00005213703,0.0002746036,0.0001858249],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001477061,0.0002222193,0.8814459,0.0001286509,0.00009324655,0.01961669,0.002118195,0.0002577175,0.07870376,0.0002173989,0.0003007046,0.01541832],"study_design_scores_gemma":[0.0000831082,0.0006975731,0.9480934,0.00004263975,0.0001725102,0.03185506,0.001249765,0.0007193043,0.01509622,0.0001619292,0.001802874,0.00002556786],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9987593,0.0001476857,0.0001634422,0.00004314174,0.000008557038,0.00001141124,0.0003498204,0.00000577821,0.0005108579],"genre_scores_gemma":[0.9988595,0.00008388456,0.0004300611,0.00005721996,0.000007587707,0.00001274163,0.0002989443,0.000004468655,0.0002454899],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004248805,"threshold_uncertainty_score":0.008448124,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02422401719893477,"score_gpt":0.3286840429570624,"score_spread":0.3044600257581277,"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."}}