{"id":"W4304080447","doi":"10.1136/bmjopen-2022-061468","title":"Positioning whole exome sequencing in the diagnostic pathway for rare disease to optimise utility: a protocol for an observational cohort study and an economic evaluation","year":2022,"lang":"en","type":"article","venue":"BMJ Open","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":8,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Ottawa; Alberta Children's Hospital; Children's Hospital of Eastern Ontario; University of Calgary; Institute for Clinical Evaluative Sciences; University of Toronto; SickKids Foundation; Hospital for Sick Children","funders":"Genome Alberta; Genome British Columbia; Génome Québec; Canadian Institutes of Health Research; Genome Canada; Children's Hospital of Eastern Ontario Foundation; Ontario Genomics; Ontario Genomics Institute","keywords":"Medicine; Observational study; Protocol (science); Exome sequencing; Cohort study; Cohort; Disease; Exome; Epidemiology; Alternative medicine; Internal medicine; Pathology; Genetics; Mutation; Gene","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":[0.1501509,0.00349071,0.003512318,0.004373366,0.003189272,0.005045993,0.003955447,0.005263698,0.02367839],"category_scores_gemma":[0.1765633,0.002560346,0.008620783,0.006254046,0.003289401,0.003238579,0.004845039,0.005485488,0.004812278],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.01257345,"about_ca_system_score_gemma":0.04162861,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.009138884,"about_ca_topic_score_gemma":0.008234135,"domain_scores_codex":[0.8687729,0.1009669,0.01477198,0.003982576,0.007644858,0.003860804],"domain_scores_gemma":[0.90148,0.04450585,0.01535229,0.01321871,0.02164638,0.003796682],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"randomized_trial","study_design_gemma":"observational","study_design_scores_codex":[0.3322805,0.01938765,0.04810834,0.06449945,0.01279175,0.003928316,0.007622982,0.05379378,0.0041082,0.1067828,0.131875,0.2148212],"study_design_scores_gemma":[0.3484389,0.05225703,0.08490778,0.05443366,0.008102032,0.001150743,0.003048802,0.04888085,0.006820291,0.07119153,0.3192156,0.001552737],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"protocol","genre_gemma":"protocol","genre_scores_codex":[0.00253326,0.0001890028,0.008183348,0.0005290785,0.0001511565,0.9833318,0.003756196,0.00005075234,0.001275459],"genre_scores_gemma":[0.002502632,0.00007959334,0.005676423,0.000122676,0.00001381741,0.9910987,0.0003913129,0.000004610836,0.0001102458],"genre_candidate":"protocol","genre_consensus":"protocol","teacher_disagreement_score":0.1501509,"threshold_uncertainty_score":0.7940834,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.2205658232519019,"score_gpt":0.4594268986397523,"score_spread":0.2388610753878504,"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."}}