{"id":"W3119814152","doi":"10.1136/gutjnl-2019-320462","title":"Evaluating the utility of tumour mutational signatures for identifying hereditary colorectal cancer and polyposis syndrome carriers","year":2021,"lang":"en","type":"article","venue":"Gut","topic":"Genetic factors in colorectal cancer","field":"Medicine","cited_by":67,"is_retracted":false,"has_abstract":true,"ca_institutions":"Lunenfeld-Tanenbaum Research Institute; Mount Sinai Hospital; University of Toronto; Ontario Institute for Cancer Research; Alberta Health Services; University of Calgary","funders":"National Cancer Institute; National Health and Medical Research Council","keywords":"MUTYH; MLH1; Colorectal cancer; DNA mismatch repair; Germline mutation; Lynch syndrome; Germline; Medicine; Cancer research; Cancer; Genetics; Oncology; Internal medicine; Biology; 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":[0.000293154,0.00009903352,0.00020677,0.00002955136,0.0001121581,0.00001289322,0.00006004197,0.00006983802,0.0003300153],"category_scores_gemma":[0.0005552777,0.00007668078,0.0000820338,0.000135416,0.0001307868,0.00003172561,0.00005347497,0.0001405271,5.025947e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00006014158,"about_ca_system_score_gemma":0.0004734789,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001795988,"about_ca_topic_score_gemma":0.0001675295,"domain_scores_codex":[0.9989988,0.00005328213,0.0002087389,0.0002337196,0.0003412904,0.0001642351],"domain_scores_gemma":[0.9991025,0.0003710734,0.00008031059,0.0001124571,0.0002720612,0.00006163686],"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":[0.0008678273,0.00008037133,0.05035659,0.0008668679,0.0005686585,0.00009884515,0.002750861,0.0004673209,0.9275293,0.00005177903,0.002502345,0.01385928],"study_design_scores_gemma":[0.001092694,0.0004200166,0.8776593,0.0001698372,0.0003207518,0.0002891706,0.001276597,0.008742764,0.1091631,0.0006917689,0.00005034934,0.0001237174],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9927333,0.005173177,0.00005419458,0.0007385952,0.0005757076,0.0004284228,0.0001416684,0.00001306072,0.000141888],"genre_scores_gemma":[0.9973426,0.00001904441,0.002082364,0.000174979,0.000107393,0.0001286214,0.00002793881,0.00001452848,0.0001025641],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8273027,"threshold_uncertainty_score":0.3613436,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.07141090133115127,"score_gpt":0.3832830963536081,"score_spread":0.3118721950224569,"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."}}