{"id":"W2782316010","doi":"10.1038/gim.2017.226","title":"The cost and diagnostic yield of exome sequencing for children with suspected genetic disorders: a benchmarking study","year":2018,"lang":"en","type":"review","venue":"Genetics in Medicine","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":96,"is_retracted":false,"has_abstract":false,"ca_institutions":"BC Children's Hospital; Centre for Advancing Health Outcomes; University of British Columbia","funders":"Canadian Institutes of Health Research; Genome British Columbia; Provincial Health Services Authority; BC Children's Hospital","keywords":"Benchmark (surveying); Benchmarking; Singleton; Yield (engineering); Confidence interval; Exome sequencing; Medicine; Pediatrics; Computer science; Statistics; Mathematics; Biology; Internal medicine; Mutation; Genetics; Economics","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":[0.004694356,0.0005741798,0.001524262,0.002057512,0.0001111914,0.001302095,0.001146886,0.000894152,0.001961416],"category_scores_gemma":[0.01391674,0.00017888,0.001012868,0.002546099,0.0005187194,0.001218321,0.0006332733,0.0009450944,0.0003018579],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001338864,"about_ca_system_score_gemma":0.001746725,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001994232,"about_ca_topic_score_gemma":0.003174084,"domain_scores_codex":[0.9982862,0.0004739435,0.0002996837,0.0003208021,0.0005326046,0.00008689528],"domain_scores_gemma":[0.9890639,0.008572358,0.0009011211,0.0001708392,0.001121232,0.0001704947],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"observational","study_design_scores_codex":[0.0004451694,0.0000366472,0.01327883,0.01167267,0.0009479068,0.0005276656,0.00007893353,0.001101671,0.0005521846,0.004478827,0.01160681,0.9552727],"study_design_scores_gemma":[0.0002939135,0.0009993311,0.1363255,0.07300502,0.009952069,0.02479375,0.001114485,0.002847787,0.00358104,0.01409695,0.7327161,0.0002740499],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.004688314,0.9910215,0.0007391795,0.001597222,0.0001755923,0.000009797011,0.0003521961,0.000009214858,0.001406991],"genre_scores_gemma":[0.04076708,0.9546999,0.001979893,0.001200345,0.0003719619,0.00002966584,0.0005673591,0.00001975014,0.0003639913],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.004694356,"threshold_uncertainty_score":0.02482641,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02838187983790859,"score_gpt":0.3098729349982373,"score_spread":0.2814910551603287,"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."}}