{"id":"W4384522151","doi":"10.1136/jmg-2023-109376","title":"Performance of the eHealth decision support tool, MIPOGG, for recognising children with Li-Fraumeni, DICER1, Constitutional mismatch repair deficiency and Gorlin syndromes","year":2023,"lang":"en","type":"article","venue":"Journal of Medical Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"Alberta Children's Hospital; Izaak Walton Killam Health Centre; Centre Hospitalier Universitaire Sainte-Justine; McMaster Children's Hospital; London Health Sciences Centre; Université Laval; BC Children's Hospital; University of Toronto; University of British Columbia; Centre Hospitalier Universitaire de Sherbrooke; BC Cancer Agency; University of Saskatchewan; Sudbury Regional Hospital; Hospital for Sick Children; Children's Hospital of Eastern Ontario; McGill University Health Centre; McGill University","funders":"Canadian Institutes of Health Research; Pediatric Oncology Group of Ontario","keywords":"Li–Fraumeni syndrome; Medicine; Medical diagnosis; Cancer; Genetic testing; Pediatrics; Internal medicine; Mutation; Pathology; Genetics; Germline mutation","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":[0.003610707,0.0004562796,0.000378905,0.002360972,0.0003580459,0.0009327395,0.000736305,0.0005329479,0.001530038],"category_scores_gemma":[0.02172693,0.0001751652,0.0003485032,0.001496845,0.0003061937,0.0005215175,0.0007685053,0.0004538703,0.0003917879],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.002593781,"about_ca_system_score_gemma":0.00361182,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.1072767,"about_ca_topic_score_gemma":0.1368967,"domain_scores_codex":[0.9981073,0.0004422363,0.0002477043,0.0002942631,0.0006829611,0.0002254662],"domain_scores_gemma":[0.9915743,0.004167634,0.001520348,0.0002458269,0.00178307,0.000708666],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002809112,0.00005776132,0.962047,0.00006804792,0.00002802777,0.0002112201,0.0003105466,0.0005372548,0.0001935837,0.00005135047,0.002217817,0.03399645],"study_design_scores_gemma":[0.00004974727,0.0003675272,0.9864787,0.0001380186,0.00009445281,0.001036207,0.000522892,0.007290313,0.001209843,0.00008793725,0.002693847,0.00003051652],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9878144,0.001188971,0.001221271,0.000661079,0.00002322032,0.0002232058,0.004477619,0.0003000422,0.004090257],"genre_scores_gemma":[0.9907917,0.0004184485,0.006104471,0.0002032763,0.00001275483,0.0000674072,0.001932255,0.00001496738,0.0004547104],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1072767,"threshold_uncertainty_score":0.2133046,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01270969302281008,"score_gpt":0.2747682193232677,"score_spread":0.2620585263004577,"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."}}