{"id":"W4282980285","doi":"10.1038/s41586-022-04738-6","title":"Signatures of copy number alterations in human cancer","year":2022,"lang":"en","type":"article","venue":"Nature","topic":"Cancer Genomics and Diagnostics","field":"Biochemistry, Genetics and Molecular Biology","cited_by":516,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children; University of Toronto","funders":"Medical Research Council; University of California, San Diego; Fonds De La Recherche Scientifique - FNRS; University College London; Wellcome Trust; Francis Crick Institute; National Institutes of Health; Cancer Research UK; National Institute of Environmental Health Sciences; National Institute for Health and Care Research; Sarcoma UK","keywords":"Chromothripsis; Biology; Copy-number variation; Copy number analysis; Genetics; Cancer; Computational biology; Genome instability; Human genome; Genome; DNA; Gene; DNA damage","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":[0.00005057139,0.0000540601,0.00006684382,0.00002232711,0.00006208973,0.00000512185,0.0001112274,0.0002091616,0.000286095],"category_scores_gemma":[0.00001989735,0.00005849511,0.00003543133,0.00008137551,0.00001713144,8.141334e-7,0.0000920613,0.0004905438,4.210888e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002416753,"about_ca_system_score_gemma":0.00007149925,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001308346,"about_ca_topic_score_gemma":0.000514989,"domain_scores_codex":[0.9995896,0.00001910927,0.00009153629,0.000134175,0.00008048394,0.0000850746],"domain_scores_gemma":[0.9997686,0.000008136642,0.00003879835,0.000133171,0.00003337088,0.00001799108],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0000898188,0.0001498559,0.03926587,0.000016952,0.00003654748,0.00000645124,0.0001611168,0.01015481,0.8385398,0.005474496,0.1055671,0.0005371242],"study_design_scores_gemma":[0.00125488,0.0002175227,0.01814771,0.00001377286,0.00002118295,0.000006375279,0.0001620136,0.00007536069,0.4481687,0.001140067,0.5304788,0.0003135237],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9931846,0.003574756,0.00001027049,0.0003074319,0.0002509088,0.00009117036,0.0002371107,0.000002369584,0.002341392],"genre_scores_gemma":[0.9978687,0.0001178025,0.00008323501,0.001089685,0.0001362653,0.00004668417,0.0001837072,0.000008962475,0.0004649856],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4249117,"threshold_uncertainty_score":0.313254,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005260340953848212,"score_gpt":0.2892031712591475,"score_spread":0.2839428303052993,"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."}}