{"id":"W4400493392","doi":"10.1001/jamanetworkopen.2024.20842","title":"Health Care Costs After Genome-Wide Sequencing for Children With Rare Diseases in England and Canada","year":2024,"lang":"en","type":"article","venue":"JAMA Network Open","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":7,"is_retracted":false,"has_abstract":true,"ca_institutions":"BC Children's Hospital; University of British Columbia; Simon Fraser University","funders":"Cancer Research UK; Wellcome Trust","keywords":"Medicine; Medical diagnosis; Health care; Cohort; Family medicine; Pediatrics; Diagnosis code; Cohort study; Genetic diagnosis; Demography; Environmental health; Population; Genetics; Internal medicine; Pathology; Biology","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00007900074,0.0001299608,0.000153236,0.00001614101,0.00008126292,0.0001837041,0.0001543956,0.00004533699,0.00000467734],"category_scores_gemma":[0.00001334618,0.0001057039,0.00002463208,0.00005325055,0.00001968456,0.000007271433,0.0001587509,0.00005417985,2.326155e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001260306,"about_ca_system_score_gemma":0.001169885,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.0726532,"about_ca_topic_score_gemma":0.6606559,"domain_scores_codex":[0.999157,0.00003819202,0.0001265884,0.0003493482,0.00005644676,0.0002724239],"domain_scores_gemma":[0.9996093,0.00002203518,0.00002921152,0.0001645621,0.00003144621,0.0001434635],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0007784041,0.00001530452,0.9735686,0.0002091536,0.0001902655,0.0001128002,0.0005200029,0.001417442,0.00003566736,0.00001817901,0.01093001,0.01220421],"study_design_scores_gemma":[0.001181782,0.0002403968,0.8844851,0.0002358153,0.00003428065,0.00002995531,0.0002214997,0.00005912933,0.00003180941,0.00002177676,0.1131594,0.0002991229],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9560216,0.04180641,0.00003921548,0.0005787197,0.00006887633,0.0007541278,0.0006743981,0.000004758344,0.00005188918],"genre_scores_gemma":[0.9958516,0.000476101,0.0002237909,0.001510597,0.000379526,0.000148903,0.001306595,0.00002797908,0.0000749516],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5880027,"threshold_uncertainty_score":0.933522,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.004173484920001289,"score_gpt":0.2217091420996309,"score_spread":0.2175356571796296,"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."}}