{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000682417,0.00009623271,0.0001694164,0.0000448974,0.0001192757,0.00001167495,0.0002321407,0.0001177588,0.00001265639],"category_scores_gemma":[0.0002555058,0.00005884952,0.00011268,0.0001006047,0.0003284265,0.000003665014,0.0001053272,0.0001056448,6.37388e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000009508994,"about_ca_system_score_gemma":0.000794353,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000001294573,"about_ca_topic_score_gemma":0.000003237202,"domain_scores_codex":[0.9987471,0.0000273307,0.0004140821,0.0001442183,0.0004928405,0.0001744998],"domain_scores_gemma":[0.9992426,0.00005147909,0.0002423572,0.0001498269,0.0001664967,0.0001472153],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001443468,0.0006303217,0.8024767,0.0005944982,0.000631832,0.00006853927,0.0003237296,0.002590614,0.01134857,0.0002538312,0.02702475,0.1526131],"study_design_scores_gemma":[0.006461547,0.006327699,0.9337916,0.0009426698,0.0004758944,0.005770479,0.00038886,0.006505029,0.01122271,0.0004688548,0.02703468,0.0006099875],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9962674,0.001741857,0.001120208,0.0004474742,0.0002142038,0.000146125,0.00003884477,0.000003249451,0.00002059247],"genre_scores_gemma":[0.991663,0.004643477,0.003278162,0.0001859115,0.0001629176,0.000002347599,0.00001913922,0.000009295015,0.000035754],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1520031,"threshold_uncertainty_score":0.2399814,"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."}}