{"id":"W1979855662","doi":"10.1038/nature11329","title":"Medulloblastoma exome sequencing uncovers subtype-specific somatic mutations","year":2012,"lang":"en","type":"article","venue":"Nature","topic":"Chromatin Remodeling and Cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":769,"is_retracted":false,"has_abstract":false,"ca_institutions":"Hospital for Sick Children","funders":"National Cancer Institute; Canadian Institutes of Health Research; National Institute of Neurological Disorders and Stroke; National Human Genome Research Institute; Eunice Kennedy Shriver National Institute of Child Health and Human Development; Howard Hughes Medical Institute","keywords":"Medulloblastoma; Biology; Exome sequencing; RNA Helicase A; Genetics; SMARCA4; Gene; Exome; Mutation; Wnt signaling pathway; Germline mutation; Cancer research; Histone; RNA; Helicase; Chromatin remodeling","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":[0.0001611937,0.0002816434,0.0002772887,0.0006724157,0.0002300016,0.0004956543,0.0002569543,0.0004015415,0.001915711],"category_scores_gemma":[0.000332294,0.0001706645,0.0002749017,0.0004758695,0.0001891535,0.0001764707,0.0002284688,0.0003654242,0.0002886257],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004591623,"about_ca_system_score_gemma":0.0002312195,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00297831,"about_ca_topic_score_gemma":0.01301357,"domain_scores_codex":[0.9998746,0.000007238687,0.00001048799,0.00003627776,0.00004975626,0.00002166713],"domain_scores_gemma":[0.9998642,0.00003922397,0.00003433069,0.00002456172,0.00001223505,0.00002531855],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0004939859,0.00003757561,0.06271244,0.00009811466,0.0001565492,0.003354301,0.0001794597,0.001333246,0.8968682,0.001361472,0.001138447,0.03226634],"study_design_scores_gemma":[0.00006086933,0.0001712827,0.4735515,0.00004444089,0.0004126837,0.02102825,0.0003232211,0.009139936,0.4749673,0.002952319,0.01731271,0.00003530987],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9906308,0.0006490435,0.002824978,0.0002346533,0.00001933602,0.00001367403,0.002930335,0.0001456147,0.002551557],"genre_scores_gemma":[0.9953735,0.0005178549,0.001642412,0.00007059398,0.000008053536,0.000004740281,0.001137146,0.00003171886,0.001213939],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00297831,"threshold_uncertainty_score":0.006408751,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01107315480253689,"score_gpt":0.2590846955059006,"score_spread":0.2480115407033637,"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."}}