{"id":"W2799574682","doi":"10.1016/s1470-2045(18)30242-0","title":"Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort","year":2018,"lang":"en","type":"article","venue":"The Lancet Oncology","topic":"Glioma Diagnosis and Treatment","field":"Medicine","cited_by":394,"is_retracted":false,"has_abstract":true,"ca_institutions":"Canada's Michael Smith Genome Sciences Centre; BC Cancer Agency; University of Calgary; McGill University; University of Toronto; Toronto General Hospital; University Health Network; Hospital for Sick Children","funders":"National Heart, Lung, and Blood Institute; Strategic Research Council; Canadian Institutes of Health Research; Brain Tumour Research; National Cancer Institute; Fondation de l'Hôpital de Montréal pour enfants; BC Cancer Foundation; Lékařská fakulta, Masarykova univerzita; Eunice Kennedy Shriver National Institute of Child Health and Human Development; Masarykova Univerzita; Nationales Centrum für Tumorerkrankungen Heidelberg; Göteborgs Universitet; Universitetet i Oslo; Karolinska Institutet; Terry Fox Research Institute; Cancerfonden; Universität Zürich; Bundesministerium für Bildung und Forschung; Norges Forskningsråd; Semmelweis Egyetem; Bundesamt für Gesundheit; Pediatric Brain Tumor Foundation; Deutsche Krebshilfe; Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung; Broad Institute; Forskningsrådet om Hälsa, Arbetsliv och Välfärd; Universidad Nacional Autónoma de México; Pediatric Oncology Group of Ontario; FH Foundation; Instituto Mexicano del Seguro Social; Colorado State University; Barncancerfonden; Ontario Institute for Cancer Research; University of Miami; European Molecular Biology Organization; University of Bern; Ministerstvo Zdravotnictví Ceské Republiky; Rockefeller University; Massachusetts Institute of Technology; Universität Basel; National Institutes of Health; Children's Hospital Foundation; John D. and Catherine T. MacArthur Foundation; Genome Canada; Garron Family Cancer Centre; European Commission; Sontag Foundation; Hospital for Sick Children; Genome British Columbia; Strategiske Forskningsråd; Cancer Research UK; World Health Organization; Deutsche Kinderkrebsstiftung; University of Chicago; University of California; Vetenskapsrådet; European Research Council; V Foundation for Cancer Research; Government of Ontario; Alexander and Margaret Stewart Trust; Deutsches Krebsforschungszentrum","keywords":"Medulloblastoma; Genetic predisposition; Retrospective cohort study; Medicine; Prospective cohort study; Cohort; Clinical trial; Oncology; Pediatrics; Internal medicine; Pathology","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":[0.0008725118,0.0001008365,0.0005402362,0.0000881255,0.00002871196,0.00000584582,0.00005444174,0.00008518078,0.00001501268],"category_scores_gemma":[0.0002003108,0.00006959646,0.00002464329,0.0001801094,0.0002988955,0.00002530243,0.00005779837,0.0001555919,0.000001903721],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001760443,"about_ca_system_score_gemma":0.00007175146,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00008672786,"about_ca_topic_score_gemma":0.001102478,"domain_scores_codex":[0.9985232,0.000412465,0.0004287722,0.0003302636,0.0001352717,0.0001700606],"domain_scores_gemma":[0.9993244,0.0002051531,0.0001583588,0.0002216218,0.00005043365,0.00004003667],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.01112657,0.001847251,0.9840674,0.00002796987,0.00007921059,0.00006329064,0.001434892,9.39567e-7,0.0001229004,0.00006532545,0.00001546927,0.001148804],"study_design_scores_gemma":[0.05088232,0.01784752,0.9293377,0.00005681645,0.0002243537,0.00005212253,0.0001536646,0.0001099829,0.0003664503,0.0009138685,0.000003882768,0.00005130533],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9955297,0.0002337066,0.000006087657,0.0006648359,0.000119018,0.003202339,0.000006426196,0.000009768747,0.0002281817],"genre_scores_gemma":[0.9987078,0.0003266834,0.0002339752,0.00004352459,0.0003600272,0.0003130077,0.00000123909,0.000007540953,0.000006206635],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.05472966,"threshold_uncertainty_score":0.2838061,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03558688702811941,"score_gpt":0.3766558975379356,"score_spread":0.3410690105098162,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). 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