{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001288539,0.0004062953,0.0006457062,0.00160741,0.001809043,0.001586664,0.001482081,0.0004808103,0.002302223],"category_scores_gemma":[0.007708326,0.0003897607,0.00119398,0.004936645,0.0006693817,0.0005939793,0.001464427,0.001102228,0.0001669989],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.07183804,"about_ca_system_score_gemma":0.06427197,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.9953707,"about_ca_topic_score_gemma":0.9970522,"domain_scores_codex":[0.9967038,0.0003396727,0.0003090739,0.0004105152,0.00123445,0.001002454],"domain_scores_gemma":[0.9944538,0.000460579,0.001690309,0.0001873415,0.001986901,0.001221104],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002460741,0.00003335988,0.962126,0.0002954712,0.00041407,0.0003801589,0.0007733884,0.00121902,0.0001132945,0.001274343,0.01709829,0.01602659],"study_design_scores_gemma":[0.00004204721,0.0000271866,0.9938684,0.0002633977,0.0001197544,0.000218717,0.000771353,0.0007945246,0.000078106,0.0001602378,0.00362327,0.00003299577],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8816594,0.006552426,0.0005247483,0.00536978,0.0001196036,0.0001989318,0.09771603,0.0000782937,0.007780765],"genre_scores_gemma":[0.9672233,0.003612224,0.001191092,0.001080892,0.00004533677,0.0001517496,0.02416681,0.00002183713,0.002506805],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.07183804,"threshold_uncertainty_score":0.5212239,"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."}}