{"id":"W2559790983","doi":"10.1056/nejme1614384","title":"When One Diagnosis Is Not Enough","year":2016,"lang":"en","type":"letter","venue":"New England Journal of Medicine","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":30,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Calgary; Alberta Children's Hospital; Children's Hospital of Eastern Ontario; University of Ottawa","funders":"","keywords":"Medicine; Exome sequencing; Genetic testing; Genetic diagnosis; Rare disease; Diagnostic test; Disease; Genetic counseling; Intensive care medicine; Pediatrics; Mutation; Pathology; Internal medicine; Genetics; Gene","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":[],"consensus_categories":[],"category_scores_codex":[0.0003028094,0.0002673871,0.0005407498,0.0001215097,0.00004037101,0.00001414344,0.0004002693,0.0004297198,0.0008184421],"category_scores_gemma":[0.0002321248,0.0001632694,0.0002092365,0.00002974153,0.0001029436,0.000003189627,0.00006522943,0.0005139618,0.00001428259],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002126122,"about_ca_system_score_gemma":0.0002748476,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000435572,"about_ca_topic_score_gemma":0.000006718763,"domain_scores_codex":[0.9984269,0.00008058894,0.0005334732,0.0002471561,0.0004261514,0.0002856988],"domain_scores_gemma":[0.9985942,0.00008144412,0.0005311522,0.0003354666,0.000243166,0.0002146105],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0001709886,0.00001736735,0.0002569011,0.00004342874,0.0002744986,0.0004481349,0.0001138462,2.951365e-7,0.004741346,0.000002082512,0.9497629,0.04416825],"study_design_scores_gemma":[0.009721945,0.001053908,0.0001172531,0.000422042,0.0002837852,0.0004380604,0.000008921033,1.281223e-7,0.004333895,0.0004259824,0.9829897,0.0002043543],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"commentary","genre_gemma":"commentary","genre_scores_codex":[0.01327208,0.01005731,0.0001691865,0.9741439,0.001350539,0.0001041583,0.0001028344,0.000003325242,0.0007966949],"genre_scores_gemma":[0.0278068,0.01441938,0.0003601769,0.7884812,0.1587781,0.00000481473,0.0001896378,0.00007815078,0.009881736],"genre_candidate":"commentary","genre_consensus":"commentary","teacher_disagreement_score":0.1856626,"threshold_uncertainty_score":0.8961368,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01910313945571889,"score_gpt":0.2464161792218884,"score_spread":0.2273130397661695,"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."}}