{"id":"W2059154675","doi":"10.1038/ng.2931","title":"Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type","year":2014,"lang":"en","type":"article","venue":"Nature Genetics","topic":"Chromatin Remodeling and Cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":500,"is_retracted":false,"has_abstract":false,"ca_institutions":"University Health Network; Royal Victoria Hospital; Royal Victoria Regional Health Centre; Jewish General Hospital; McGill University; University of Ottawa; McGill University Health Centre; Princess Margaret Cancer Centre; Montreal Children's Hospital; McGill University and Génome Québec Innovation Centre; Children's Hospital of Eastern Ontario; McGill Genome Centre","funders":"National Heart, Lung, and Blood Institute","keywords":"SMARCA4; Biology; Germline; Germline mutation; Genetics; Somatic cell; Mutation; Exome sequencing; Cancer research; Epigenetics; Gene","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001391528,0.0005743136,0.0003807569,0.001740601,0.0004212019,0.0005669082,0.0005883861,0.0008500043,0.002566451],"category_scores_gemma":[0.00102988,0.0003617607,0.0003523192,0.001165118,0.0008218407,0.0002464769,0.0003875289,0.0003248976,0.0003882727],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004853371,"about_ca_system_score_gemma":0.0003066781,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002338151,"about_ca_topic_score_gemma":0.003046751,"domain_scores_codex":[0.9997929,0.0000145563,0.00002218389,0.00004502947,0.00006287514,0.00006244877],"domain_scores_gemma":[0.9995523,0.000124399,0.0001402391,0.00004024591,0.00002912415,0.0001137243],"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":[0.001742466,0.0001538179,0.3437892,0.00008890727,0.0001477273,0.1730809,0.0006565361,0.0006736032,0.4699198,0.00124736,0.0004785215,0.008021117],"study_design_scores_gemma":[0.000138332,0.000403973,0.588915,0.000009820631,0.0001405184,0.3670717,0.000700953,0.001278128,0.03833332,0.001070899,0.00189785,0.00003964526],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9984015,0.0001585478,0.0001412357,0.00004410506,0.000004744048,0.000008867808,0.0001369781,0.00001684132,0.001087171],"genre_scores_gemma":[0.9993389,0.00005462228,0.0001537921,0.00001289518,0.000007379938,0.000003251147,0.00008713795,0.000009417307,0.0003326126],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002566451,"threshold_uncertainty_score":0.008585632,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007905791056056787,"score_gpt":0.2248158149058023,"score_spread":0.2169100238497455,"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."}}