{"id":"W4388116298","doi":"10.1016/j.gim.2023.101012","title":"Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study","year":2023,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":8,"is_retracted":false,"has_abstract":false,"ca_institutions":"SickKids Foundation; University of Toronto; Western University; McMaster Children's Hospital; London Health Sciences Centre; Queen's University; McMaster University; Hospital for Sick Children; Children's Hospital of Eastern Ontario; University of Calgary; Kingston General Hospital; Ottawa Hospital","funders":"Genome British Columbia; Genome Alberta; Canadian Institutes of Health Research; Genome Canada; Ontario Genomics; Ontario Genomics Institute","keywords":"Medical diagnosis; Medicine; Exome sequencing; Molecular diagnostics; Diagnostic test; Medical record; Proband; Disease; Genetic testing; Pediatrics; Internal medicine; Pathology; Bioinformatics; Genetics; Mutation","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":[0.004582602,0.0005109909,0.0006237105,0.0009824164,0.001562496,0.002233798,0.001364044,0.001104993,0.001911222],"category_scores_gemma":[0.02037702,0.0006871773,0.001055501,0.002222703,0.001066808,0.001675745,0.002231769,0.00160722,0.000294134],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001736089,"about_ca_system_score_gemma":0.002191542,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.03754349,"about_ca_topic_score_gemma":0.03856849,"domain_scores_codex":[0.9949678,0.002144633,0.0003920011,0.001033623,0.0005624128,0.0008995399],"domain_scores_gemma":[0.9835011,0.004776103,0.006543433,0.002113239,0.001815641,0.001250569],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001143424,0.00006245016,0.9990366,0.000003212987,0.00006857089,0.00004531321,0.0001746566,0.0000264894,0.00004643261,0.00002539009,0.0001064215,0.0002900885],"study_design_scores_gemma":[0.00003341441,0.0001671471,0.9981316,0.000009136071,0.00008801148,0.0001789504,0.0007064894,0.0004469952,0.00005365549,0.00004131913,0.0001343084,0.000009020258],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9991627,0.00003806732,0.00006392127,0.0001178913,0.000005046397,0.000009849931,0.0004942709,0.000001840975,0.0001065419],"genre_scores_gemma":[0.9992281,0.00002370492,0.0001112602,0.00006704495,0.00001028139,0.00001669581,0.0004622789,0.000003624917,0.00007703298],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.03754349,"threshold_uncertainty_score":0.07464987,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02083409857270222,"score_gpt":0.3316260952316278,"score_spread":0.3107919966589256,"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."}}