{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0007351821,0.0003149045,0.0002029833,0.001229894,0.002640151,0.001059447,0.001272616,0.0007708289,0.01110382],"category_scores_gemma":[0.002925001,0.0003086145,0.0001369889,0.002208739,0.0007494332,0.000351085,0.001557842,0.000678357,0.001208641],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.01087975,"about_ca_system_score_gemma":0.02507202,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.8169708,"about_ca_topic_score_gemma":0.9187694,"domain_scores_codex":[0.999159,0.0001842418,0.00005144622,0.0001288211,0.0001892948,0.0002872391],"domain_scores_gemma":[0.9959356,0.0005580764,0.0004730715,0.00009448824,0.0008573812,0.002081314],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0005763972,0.0004784161,0.7088537,0.0005006238,0.00003405072,0.007892546,0.003673085,0.0006206881,0.005050109,0.0004270535,0.09871965,0.1731738],"study_design_scores_gemma":[0.000207637,0.000250867,0.9612567,0.000240898,0.00002484607,0.003867727,0.004837569,0.001410302,0.0006754715,0.0001651719,0.0270044,0.00005830682],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.958861,0.002310557,0.00194627,0.007256381,0.0001483708,0.0007431869,0.005238833,0.0007120761,0.02278327],"genre_scores_gemma":[0.9648807,0.002187851,0.009480449,0.006220422,0.00009900178,0.0004336035,0.003841834,0.0001965844,0.01265948],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1830292,"threshold_uncertainty_score":0.3682141,"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."}}