{"id":"W2760749044","doi":"10.1002/pbc.26720","title":"DICER1 syndrome: Approach to testing and management at a large pediatric tertiary care center","year":2017,"lang":"en","type":"article","venue":"Pediatric Blood & Cancer","topic":"Congenital Diaphragmatic Hernia Studies","field":"Medicine","cited_by":48,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; University of Toronto; Princess Margaret Cancer Centre; Hospital for Sick Children","funders":"","keywords":"Medicine; Proband; Genetic testing; Pediatrics; Asymptomatic; Retrospective cohort study; Tertiary care; Internal medicine; Mutation; Genetics","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0001570683,0.0003213394,0.0004514287,0.0002301706,0.0005911701,0.00008695279,0.0002501261,0.00008701697,0.00007630396],"category_scores_gemma":[0.0002181264,0.00028213,0.00009180099,0.0002415589,0.00003906394,0.0001144892,0.001004739,0.0001888823,0.00007848927],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001210235,"about_ca_system_score_gemma":0.00005833483,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000243255,"about_ca_topic_score_gemma":0.0001170952,"domain_scores_codex":[0.9978996,0.00002493993,0.0003499622,0.0006385117,0.0004552205,0.0006317559],"domain_scores_gemma":[0.9985616,0.00007539458,0.0001794801,0.0006909996,0.0001377936,0.0003547925],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00001963997,0.0002347152,0.9891291,0.003071754,0.0001905977,0.0002117814,0.0009175371,0.000001234512,0.000005096234,0.000005653577,0.00228762,0.003925289],"study_design_scores_gemma":[0.003024696,0.00008990645,0.9919455,0.00007188872,0.002580936,0.0001297574,0.0002664031,0.00003621498,0.000004468908,0.000005192488,0.001525798,0.0003192051],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9684896,0.01372874,0.0000224034,0.0004373077,0.0003066565,0.001291496,0.0001329759,0.0001071253,0.01548363],"genre_scores_gemma":[0.9904065,0.003138698,0.002920499,0.0005132138,0.00102845,0.0005736476,0.00001213936,0.00006005636,0.001346807],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02191682,"threshold_uncertainty_score":0.9999631,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01872882375820767,"score_gpt":0.2733826486089395,"score_spread":0.2546538248507318,"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."}}