{"id":"W2919912164","doi":"10.1101/mcs.a003681","title":"Base excision repair deficiency signatures implicate germline and somatic <i>MUTYH</i> aberrations in pancreatic ductal adenocarcinoma and breast cancer oncogenesis","year":2019,"lang":"en","type":"article","venue":"Molecular Case Studies","topic":"Cancer Genomics and Diagnostics","field":"Biochemistry, Genetics and Molecular Biology","cited_by":38,"is_retracted":false,"has_abstract":true,"ca_institutions":"Vancouver General Hospital; Canadian Centre for Applied Research in Cancer Control; Canada's Michael Smith Genome Sciences Centre; Pancreas Centre (Canada); University of British Columbia; BC Cancer Agency","funders":"Canadian Institutes of Health Research","keywords":"MUTYH; Carcinogenesis; Cancer research; Somatic cell; Breast cancer; Pancreatic ductal adenocarcinoma; Germline; Medicine; Base excision repair; Cancer; Biology; Pancreatic cancer; Germline mutation; Internal medicine; DNA repair; Gene; Genetics; Mutation","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0001212791,0.0002154712,0.0002676503,0.00007197184,0.0001140031,0.00002610755,0.00005711318,0.00009039689,0.000005508547],"category_scores_gemma":[0.00007793235,0.0001983737,0.00006921383,0.0001226026,0.0001089977,0.000006487866,0.0002286279,0.00007471676,0.000001847705],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000333518,"about_ca_system_score_gemma":0.00006491546,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002137297,"about_ca_topic_score_gemma":0.000491008,"domain_scores_codex":[0.9988567,0.00004862365,0.0002530793,0.0005039829,0.00009634513,0.0002412358],"domain_scores_gemma":[0.9993883,0.00004952129,0.00007405251,0.0003169212,0.00009279458,0.00007839962],"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":[0.0001163552,0.0001156911,0.1407036,0.0003095242,0.0002053669,0.00160119,0.0004919391,0.0004444105,0.8539793,0.0001786758,0.0006420094,0.001211979],"study_design_scores_gemma":[0.01183601,0.002566396,0.7491934,0.0008807034,0.002027576,0.02722106,0.00863289,0.005647595,0.183708,0.002005701,0.001874132,0.004406584],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9197603,0.07924758,0.00007298143,0.0003100931,0.0000776184,0.0003478842,0.0001164292,0.00001228671,0.00005475775],"genre_scores_gemma":[0.9928049,0.006194625,0.0003878713,0.0003710864,0.0000565575,0.00009327614,0.00002086529,0.00002602247,0.00004478772],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6702713,"threshold_uncertainty_score":0.8089446,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008755594228724255,"score_gpt":0.2630324736395824,"score_spread":0.2542768794108581,"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."}}