{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002999794,0.0001818293,0.0005647533,0.0001483226,0.00003312072,0.00001066392,0.00006096832,0.0001867805,0.0003263794],"category_scores_gemma":[0.0001251797,0.0001347125,0.00005196081,0.0003293751,0.00006634731,0.00005937532,0.0001068162,0.0002102923,0.000008770791],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003519422,"about_ca_system_score_gemma":0.0003665382,"about_ca_topic_candidate":true,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001420901,"about_ca_topic_score_gemma":0.02452488,"domain_scores_codex":[0.9982851,0.0002126206,0.0004035814,0.0006114065,0.0001909603,0.0002963992],"domain_scores_gemma":[0.9990864,0.0002408277,0.0000854028,0.0003550983,0.0001063337,0.0001259308],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0007303431,0.001580508,0.7263476,0.00001204832,0.00004129832,0.0009540598,0.0002539281,0.000005468772,0.0009398842,0.00001106086,0.00005700331,0.2690668],"study_design_scores_gemma":[0.00979497,0.0007566944,0.986651,0.0002249522,0.00006682085,0.000892884,0.0001098888,0.0001162765,0.000858676,0.00007930895,0.000319966,0.0001285861],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.988212,0.00945351,0.000008715575,0.00127099,0.0001211639,0.00069549,0.00003249118,0.00001754989,0.0001880287],"genre_scores_gemma":[0.99343,0.003882976,0.001982379,0.0002924341,0.00007827026,0.0001812297,0.00006091346,0.0000188151,0.00007295314],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2689382,"threshold_uncertainty_score":0.993275,"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."}}