{"id":"W3118235744","doi":"10.1200/po.20.00218","title":"Pathogenic Germline Variants in Cancer Susceptibility Genes in Children and Young Adults With Rhabdomyosarcoma","year":2021,"lang":"en","type":"article","venue":"JCO Precision Oncology","topic":"Sarcoma Diagnosis and Treatment","field":"Medicine","cited_by":45,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Vector Institute; Hospital for Sick Children; University of Toronto","funders":"Hyundai Hope On Wheels; Canadian Institutes of Health Research; University of Toronto; National Cancer Institute; National Institutes of Health; Consejo Nacional de Ciencia y Tecnología; Children’s Oncology Group; Hope Foundation; Huntsman Cancer Institute; Cancer Prevention and Research Institute of Texas","keywords":"Germline; Genetics; Biology; Exome; CHEK2; Exome sequencing; Germline mutation; Cancer; Fusion gene; Oncology; Gene; Medicine; Mutation","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"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":[0.0003178707,0.0002973628,0.0002609086,0.000867613,0.0004324001,0.0003185166,0.0002256989,0.000337988,0.001549957],"category_scores_gemma":[0.001129876,0.0001542413,0.0002891669,0.0006929045,0.0003546655,0.0001888313,0.0003995716,0.0003353473,0.0001738897],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002340921,"about_ca_system_score_gemma":0.0002790276,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002944594,"about_ca_topic_score_gemma":0.003369396,"domain_scores_codex":[0.9997078,0.00003012742,0.00002861515,0.000122631,0.00006370189,0.00004711272],"domain_scores_gemma":[0.9994332,0.00015506,0.000246011,0.0000317859,0.00004536147,0.00008853658],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001011253,0.00001037256,0.9946931,0.00001123095,0.00002915481,0.0009086487,0.0001235423,0.00006401681,0.001932866,0.00004063025,0.0001368248,0.001948433],"study_design_scores_gemma":[0.00001036022,0.00006085604,0.9943335,0.00001024035,0.00002766235,0.004243548,0.0001721457,0.0000854764,0.000495204,0.00005297242,0.0005039509,0.000003972231],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9989367,0.0002237257,0.00007556948,0.00001983538,0.000003417319,0.000004825934,0.0004826086,0.00000501436,0.0002483231],"genre_scores_gemma":[0.9991534,0.0001499857,0.0001388839,0.00002410121,0.000005831609,0.000007093849,0.0004397939,0.000003256311,0.00007782615],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002944594,"threshold_uncertainty_score":0.005854905,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01579878981124232,"score_gpt":0.3125947657448777,"score_spread":0.2967959759336354,"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."}}