{"id":"W4281867267","doi":"10.1038/s41467-022-30916-1","title":"Identifying colorectal cancer caused by biallelic MUTYH pathogenic variants using tumor mutational signatures","year":2022,"lang":"en","type":"article","venue":"Nature Communications","topic":"Cancer Genomics and Diagnostics","field":"Biochemistry, Genetics and Molecular Biology","cited_by":35,"is_retracted":false,"has_abstract":true,"ca_institutions":"Lunenfeld-Tanenbaum Research Institute; Mount Sinai Hospital; University of Toronto; Ontario Institute for Cancer Research","funders":"National Health and Medical Research Council; National Cancer Institute; Medical Research Council; National Institutes of Health; World Health Organization","keywords":"MUTYH; Colorectal cancer; Genetics; Biology; Cancer research; Cancer; Mutation; Medicine; Computational biology; Gene; Germline mutation","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":[0.000875024,0.0003206035,0.0004134208,0.001287573,0.0002280446,0.0007112077,0.00020275,0.0004799649,0.0009893865],"category_scores_gemma":[0.002596795,0.0001375203,0.0002620808,0.0005595797,0.0001895574,0.0002223629,0.0004034158,0.0002512816,0.0003264971],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001617904,"about_ca_system_score_gemma":0.0001672837,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008918024,"about_ca_topic_score_gemma":0.001596215,"domain_scores_codex":[0.9993838,0.0001508937,0.00005379088,0.0001796888,0.000169939,0.00006190809],"domain_scores_gemma":[0.9982017,0.0009660943,0.0004142132,0.0001267858,0.0001588379,0.0001323136],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001005793,0.0001430228,0.7901175,0.0001082062,0.0002142283,0.0006575623,0.00006958585,0.00390772,0.1724487,0.00009492807,0.0003911788,0.03084155],"study_design_scores_gemma":[0.00005468579,0.0009654025,0.7985152,0.00003458122,0.0002197216,0.005953908,0.0001679901,0.08475933,0.1073709,0.0006109907,0.001307428,0.000039798],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9957669,0.0002457508,0.003134956,0.00003907974,0.000007762759,0.00002340987,0.000366881,0.0001137184,0.0003016577],"genre_scores_gemma":[0.9954046,0.000058625,0.003993011,0.00002909195,0.000005472114,0.000008781443,0.000368736,0.000008465981,0.0001231881],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001287573,"threshold_uncertainty_score":0.004627645,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02099202407136853,"score_gpt":0.3112761104600619,"score_spread":0.2902840863886934,"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."}}