{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.04155938,0.0005610764,0.0008694201,0.003908236,0.003756884,0.005418397,0.00268487,0.0007497261,0.001173245],"category_scores_gemma":[0.1216928,0.0006130013,0.0005716624,0.01068907,0.001892937,0.001281327,0.004778548,0.0008450401,0.0002548319],"about_ca_system_candidate":true,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.04697974,"about_ca_system_score_gemma":0.1314433,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.9716516,"about_ca_topic_score_gemma":0.9890404,"domain_scores_codex":[0.9608856,0.01973872,0.002990265,0.003159054,0.009793183,0.003433281],"domain_scores_gemma":[0.886579,0.04396993,0.01469982,0.00782377,0.04160308,0.00532448],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003341603,0.00003624515,0.9014388,0.0005568675,0.0004023977,0.0006045166,0.006807995,0.002097226,0.0008260139,0.00182391,0.009634529,0.07543737],"study_design_scores_gemma":[0.0001296322,0.0001010712,0.9478554,0.001096999,0.0004816021,0.0004358928,0.00883537,0.01032913,0.001077545,0.003264168,0.02626016,0.0001330083],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8739485,0.01512108,0.01935345,0.04661732,0.0002625429,0.001366168,0.02213678,0.0003081597,0.02088601],"genre_scores_gemma":[0.9683006,0.002017488,0.02219657,0.003075766,0.00007336868,0.0002373675,0.003015545,0.00006407953,0.001019092],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.9530203,"threshold_uncertainty_score":0.3408635,"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."}}