{"id":"W2972522611","doi":"10.1038/s41467-019-12071-2","title":"Cooperation of cancer drivers with regulatory germline variants shapes clinical outcomes","year":2019,"lang":"en","type":"article","venue":"Nature Communications","topic":"Cancer Genomics and Diagnostics","field":"Biochemistry, Genetics and Molecular Biology","cited_by":72,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children; University of Toronto","funders":"FP7 Health; Dr. Rolf M. Schwiete Stiftung; Deutsche Krebshilfe; Ludwig-Maximilians-Universität München; Medizinischen Fakultät, Ludwig-Maximilians-Universität München; China Scholarship Council; Studienstiftung des Deutschen Volkes; Deutsche Forschungsgemeinschaft","keywords":"Germline; Biology; Germline mutation; Transcription factor; Enhancer; Somatic cell; Genetics; Phenotype; Cancer research; Mutation; 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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001272576,0.00008205901,0.0001436238,0.000024178,0.00005341063,0.000009407869,0.0004096512,0.0002164668,0.00002783767],"category_scores_gemma":[0.00009131257,0.00006894878,0.00006178804,0.00007317465,0.0001090849,0.000003721887,0.0001705734,0.0002237031,0.000004880882],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001345178,"about_ca_system_score_gemma":0.0001794114,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004249834,"about_ca_topic_score_gemma":0.001649254,"domain_scores_codex":[0.9994291,0.00004626504,0.0002059541,0.0001617311,0.00007503961,0.00008191045],"domain_scores_gemma":[0.9985869,0.00008392935,0.0001225957,0.0009510084,0.0002177107,0.00003786559],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00007584171,0.0001941296,0.9572202,0.00001099154,0.0002341226,2.32839e-7,0.00003934154,0.0004422121,0.0285602,0.00762374,0.003755847,0.00184314],"study_design_scores_gemma":[0.001040029,0.0001919163,0.9010897,0.00002622003,0.00007027153,0.000001417455,0.00003518476,0.0004064792,0.003446401,0.0000281955,0.09348442,0.0001798067],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9934169,0.003798392,0.00008633474,0.001050959,0.0001706535,0.0002167565,0.00009756754,0.000007122926,0.001155288],"genre_scores_gemma":[0.9924568,0.003385055,0.002874509,0.0007005073,0.0000542957,0.00001528826,0.0001876126,0.00001307007,0.0003128758],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.08972857,"threshold_uncertainty_score":0.281165,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01391541888928459,"score_gpt":0.3307399774953939,"score_spread":0.3168245586061093,"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."}}