{"id":"W2913692245","doi":"10.1016/j.ccell.2018.12.011","title":"Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor Phenotype","year":2019,"lang":"en","type":"article","venue":"Cancer Cell","topic":"Genetic factors in colorectal cancer","field":"Medicine","cited_by":175,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University","funders":"Deutsche Krebshilfe; KWF Kankerbestrijding; Federación Española de Enfermedades Raras; International Centre for Genetic Engineering and Biotechnology; National Breast Cancer Foundation; European Cooperation in Science and Technology; Cancer Research UK","keywords":"Germline; Phenotype; Biology; Colorectal cancer; Germline mutation; Cancer research; Cancer; Genetics; 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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00007534126,0.0003803341,0.0002062487,0.0005435616,0.0002402192,0.0001891993,0.0002462859,0.0005022793,0.00347508],"category_scores_gemma":[0.0002025458,0.0001039884,0.000313171,0.0002354007,0.000268218,0.00008246036,0.0002514118,0.0003592301,0.000681858],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000272659,"about_ca_system_score_gemma":0.0002264436,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002249926,"about_ca_topic_score_gemma":0.002936466,"domain_scores_codex":[0.9998701,0.00001539519,0.00001658657,0.00002782832,0.00004071889,0.00002936423],"domain_scores_gemma":[0.9998143,0.00004830218,0.00004315224,0.00001625485,0.00001687975,0.00006103022],"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":[0.0001708659,0.00003122695,0.001418477,0.00002544546,0.000015863,0.003901726,0.00002451172,0.0001164439,0.99265,0.0001983283,0.0001720348,0.00127508],"study_design_scores_gemma":[0.00002734977,0.0002460327,0.04059917,0.00001011406,0.0000677326,0.02113829,0.0001008559,0.002429168,0.9298006,0.0001374697,0.005428412,0.00001480194],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.990473,0.0003783868,0.003011558,0.0002642619,0.00005899207,0.00005116656,0.00183989,0.0001544576,0.003768297],"genre_scores_gemma":[0.9950132,0.0001620164,0.001555153,0.00006761672,0.000005053493,0.00001427314,0.0006673891,0.00004203983,0.002473231],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00347508,"threshold_uncertainty_score":0.01162529,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01966760751172163,"score_gpt":0.3034942271193881,"score_spread":0.2838266196076665,"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."}}