{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000163815,0.0001331864,0.0001153714,0.00006166098,0.0007521611,0.00004672496,0.0007837981,0.0001336961,0.00009448572],"category_scores_gemma":[0.0001011147,0.0001590459,0.00008942578,0.000222927,0.00009568506,0.000005204444,0.0008049716,0.0005872989,0.00000175463],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001297171,"about_ca_system_score_gemma":0.0003826794,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001383556,"about_ca_topic_score_gemma":0.0008085506,"domain_scores_codex":[0.999001,0.0001423193,0.000199589,0.0002725151,0.000189228,0.0001953833],"domain_scores_gemma":[0.9989446,0.00007391192,0.000141026,0.0006536361,0.0001232305,0.00006359997],"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":[0.00003310888,0.0001383945,0.001254127,0.000004913997,0.00009949936,0.000004056519,0.0001221557,0.002340806,0.979825,0.0009108089,0.01495003,0.0003171384],"study_design_scores_gemma":[0.005066801,0.000555814,0.06035595,0.00005922957,0.0005834371,0.0002205921,0.001545092,0.0207581,0.1485298,0.001912809,0.7579346,0.002477692],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9456604,0.04955442,0.000333771,0.001019518,0.0006557708,0.000353586,0.002106385,0.00002362996,0.0002925123],"genre_scores_gemma":[0.9940819,0.0008361296,0.001631603,0.001275686,0.0001361311,0.0001885129,0.001747293,0.00003234317,0.0000704554],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8312951,"threshold_uncertainty_score":0.6485705,"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."}}