{"id":"W4308688635","doi":"10.1111/cge.14262","title":"Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data","year":2022,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":11,"is_retracted":false,"has_abstract":true,"ca_institutions":"Trillium Health Centre; Mount Sinai Hospital; Queen's University; University of Toronto; Western University; London Health Sciences Centre; McMaster Children's Hospital; University Health Network; Ottawa Hospital; North York General Hospital; University of Alberta; Children's Hospital of Eastern Ontario; Hospital for Sick Children; Kingston Health Sciences Centre; University of Ottawa","funders":"Genome Alberta; Genome British Columbia; Canadian Institutes of Health Research; Genome Canada; Children's Hospital of Eastern Ontario Foundation; Génome Québec; Ontario Genomics Institute","keywords":"Medical diagnosis; Exome sequencing; Medicine; Exome; Translational research; Genetics; Gene; Pathology; 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":[],"consensus_categories":[],"category_scores_codex":[0.004122217,0.0001741788,0.0006674699,0.00007196087,0.000184071,0.00002831019,0.0009577906,0.00020921,0.00006360983],"category_scores_gemma":[0.002245536,0.0001840803,0.0002070291,0.0001854229,0.0003650853,0.000004123642,0.003124989,0.0009501561,7.789234e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001128845,"about_ca_system_score_gemma":0.004300152,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.5611178,"about_ca_topic_score_gemma":0.898425,"domain_scores_codex":[0.9947044,0.001333156,0.001938835,0.001149127,0.0004788238,0.0003956593],"domain_scores_gemma":[0.9964095,0.001197404,0.0003281618,0.001562355,0.0001964754,0.0003061405],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001605789,0.0001660611,0.9612691,0.00001712627,0.0001675077,0.0001415428,0.00006744087,0.0004391824,0.0002201098,0.000002831572,0.00229163,0.03505684],"study_design_scores_gemma":[0.001732684,0.0008264867,0.9392551,0.00004549971,0.0001948137,0.000009019715,0.002451083,0.001802272,0.0002061105,0.0001312335,0.05295335,0.0003923503],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9912603,0.007040969,0.00002833872,0.0001194778,0.000579512,0.0001983768,0.0005976553,0.000003707786,0.0001717],"genre_scores_gemma":[0.9918633,0.004008553,0.002104731,0.0003494481,0.0004873933,0.00001223951,0.00108344,0.00002987419,0.00006105605],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3373072,"threshold_uncertainty_score":0.7628285,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.2687865316194111,"score_gpt":0.4434880075465328,"score_spread":0.1747014759271217,"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."}}