{"id":"W2069234562","doi":"10.1016/j.ymgme.2015.03.001","title":"Retrospective analysis supports algorithm as efficient diagnostic approach to treatable intellectual developmental disabilities","year":2015,"lang":"en","type":"article","venue":"Molecular Genetics and Metabolism","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":16,"is_retracted":false,"has_abstract":false,"ca_institutions":"Pacific Centre for Reproductive Medicine; Child and Family Research Institute; BC Children's Hospital; University of British Columbia","funders":"","keywords":"Medicine; Pediatrics; Protocol (science); Confidence interval; Retrospective cohort study; Population; Intellectual disability; Algorithm; Internal medicine; Pathology; Psychiatry","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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.000181393,0.0002850055,0.0003405187,0.0001564727,0.00009617207,0.00008795937,0.0001813053,0.0001099798,0.00002070832],"category_scores_gemma":[0.0006149195,0.0002655285,0.0001660433,0.0003603314,0.0001194206,0.000002326761,0.0003134868,0.00006523415,0.00001927279],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003567719,"about_ca_system_score_gemma":0.0001833741,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00007649628,"about_ca_topic_score_gemma":0.000009754791,"domain_scores_codex":[0.9983484,0.00006808779,0.0002519058,0.0006744636,0.0002722198,0.0003849104],"domain_scores_gemma":[0.9989029,0.00001902255,0.00004563817,0.0003474239,0.0001771521,0.0005079014],"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":[0.001160038,0.01026784,0.08737545,0.0002599081,0.02375524,0.0005712645,0.05194213,0.1482273,0.509149,0.01304438,0.02951305,0.1247345],"study_design_scores_gemma":[0.007499766,0.002151533,0.1499194,0.00003898905,0.008038336,0.0007176399,0.02312729,0.01401734,0.43848,0.003597253,0.3463425,0.006069939],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9640397,0.006163038,0.0260987,0.00002737467,0.0001335756,0.0003582867,0.0001368544,0.00001286682,0.003029536],"genre_scores_gemma":[0.9861572,0.0003314719,0.01221712,0.0002823921,0.0001035625,0.00007678196,0.0003832752,0.00003676603,0.0004113767],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3168294,"threshold_uncertainty_score":0.9999797,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008198367437289527,"score_gpt":0.2265956064420883,"score_spread":0.2183972390047988,"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."}}