{"id":"W2806205490","doi":"10.1002/mgg3.410","title":"The Genomic Consultation Service: A clinical service designed to improve patient selection for genome‐wide sequencing in British Columbia","year":2018,"lang":"en","type":"article","venue":"Molecular Genetics & Genomic Medicine","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":25,"is_retracted":false,"has_abstract":true,"ca_institutions":"Pacific Centre for Reproductive Medicine; Centre for Advancing Health Outcomes; BC Children's Hospital; iCo Therapeutics (Canada); University of British Columbia","funders":"Genome British Columbia; Provincial Health Services Authority; BC Children's Hospital; Children's Hospital Foundation","keywords":"Referral; Medicine; Medical genetics; Exome sequencing; Family medicine; Service (business); Triage; Demographics; Exome; Pediatrics; Genetics; Medical emergency; Gene; Mutation; Biology","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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0007936871,0.0002485085,0.000350836,0.0000611236,0.0003245528,0.0001418662,0.0004368272,0.0002303687,0.00002115788],"category_scores_gemma":[0.0004862155,0.000300367,0.0001095147,0.0003283875,0.0001508235,0.000003679755,0.0002113437,0.0001289632,0.0000215327],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002106324,"about_ca_system_score_gemma":0.0006887041,"about_ca_topic_candidate":true,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003323203,"about_ca_topic_score_gemma":0.07461495,"domain_scores_codex":[0.9972185,0.0001978237,0.000929605,0.0008451566,0.0002052049,0.0006037377],"domain_scores_gemma":[0.9979509,0.0001020793,0.0002688297,0.0005466462,0.0008259244,0.0003056017],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0002268646,0.00004399517,0.00494388,0.00004277349,0.0001068514,0.00001164459,0.0004593619,0.001000975,0.9829178,0.000003636792,0.000821989,0.009420265],"study_design_scores_gemma":[0.02364173,0.0200251,0.4087337,0.0004795511,0.001140106,0.0004801542,0.00715459,0.02577299,0.1344454,0.002261465,0.3716708,0.004194372],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9857862,0.002240603,0.008547031,0.0007104882,0.000556035,0.002024246,0.00006904852,0.00001743819,0.00004893801],"genre_scores_gemma":[0.985567,0.0004813651,0.003696784,0.008795386,0.0006872958,0.0002734811,0.0002773952,0.00009075205,0.0001304806],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8484723,"threshold_uncertainty_score":0.9999449,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01161891302166481,"score_gpt":0.2716569602536619,"score_spread":0.2600380472319971,"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."}}