{"id":"W4309411144","doi":"10.1002/ajmg.a.63053","title":"Diagnostic yield of clinical exome sequencing in adulthood in medical genetics clinics","year":2022,"lang":"en","type":"review","venue":"American Journal of Medical Genetics Part A","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":24,"is_retracted":false,"has_abstract":true,"ca_institutions":"Princess Margaret Cancer Centre; University of Toronto; Women and Children’s Health Research Institute; University of Alberta; Alberta Health Services","funders":"Health Foundation Limburg; Alberta Health Services","keywords":"Medical genetics; Exome sequencing; Medicine; Genetic testing; Medical diagnosis; Genetic diagnosis; Retrospective cohort study; Molecular genetics; Genetic counseling; Pediatrics; Internal medicine; Genetics; Pathology; Biology; Mutation","routes":{"ca_aff":true,"ca_fund":true,"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":[0.001633292,0.0002268646,0.0002581331,0.0008756304,0.0004248554,0.0006211868,0.0002824881,0.0004557903,0.001154269],"category_scores_gemma":[0.01053249,0.0001750582,0.0002361369,0.0007060916,0.0002660544,0.0004678984,0.0007355931,0.0002927082,0.0002637671],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003414601,"about_ca_system_score_gemma":0.0003127711,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003202935,"about_ca_topic_score_gemma":0.002825572,"domain_scores_codex":[0.9981861,0.0005093985,0.0003002764,0.0003969695,0.0003265614,0.0002807949],"domain_scores_gemma":[0.993859,0.002079133,0.002394677,0.0004007509,0.0007546993,0.0005117701],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00003325235,0.000004584841,0.9985934,0.000002916966,0.000005740323,0.0002679279,0.00003249188,0.00001563847,0.00009917107,0.00001212173,0.00005860772,0.0008741377],"study_design_scores_gemma":[0.00000479987,0.00009283239,0.9948254,0.00001628267,0.00002208172,0.003805486,0.0001781705,0.0003226694,0.000301413,0.00004596497,0.0003799763,0.000005071201],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"review","genre_scores_codex":[0.9982223,0.0004409002,0.0002162405,0.00006150407,0.000005404315,0.00000760225,0.0005095389,0.000006372784,0.0005301955],"genre_scores_gemma":[0.9993634,0.00008337945,0.0001170022,0.00003292113,0.000005724361,0.000004482924,0.000344403,0.000002111218,0.00004658582],"genre_candidate":"review","genre_consensus":null,"teacher_disagreement_score":0.003202935,"threshold_uncertainty_score":0.008637726,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.07414172642827715,"score_gpt":0.4125527466011749,"score_spread":0.3384110201728977,"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."}}