{"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":"codex-gemma-dda1882f352a","candidate_categories":["insufficient_payload"],"consensus_categories":[],"category_scores_codex":[0.0001101019,0.0001942815,0.0003766737,0.0001529092,0.00004283891,0.00001698608,0.0001553712,0.00009695705,0.006752436],"category_scores_gemma":[0.00005517189,0.0001709405,0.000161058,0.0009136178,0.00003172402,0.00004400508,0.00005135698,0.0001953282,0.0003983969],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004631683,"about_ca_system_score_gemma":0.0003226791,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003053485,"about_ca_topic_score_gemma":0.0003123604,"domain_scores_codex":[0.9984805,0.00002980559,0.0002501066,0.0004933947,0.0004108316,0.0003353413],"domain_scores_gemma":[0.9989459,0.00006709991,0.00009342187,0.0004116587,0.0002511024,0.0002308502],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0010748,0.0007565102,0.5084883,0.0008383169,0.001165714,0.0001455878,0.005186487,0.05645563,0.4013515,0.00008855297,0.01994987,0.004498763],"study_design_scores_gemma":[0.004854783,0.001241698,0.8999272,0.0002032657,0.003671645,0.00001690816,0.0009057306,0.00559376,0.05810957,0.00007668787,0.02418857,0.001210191],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9898939,0.003116316,0.0006161369,0.0002811772,0.0006810745,0.0007574559,0.0000838051,0.00005115265,0.004518965],"genre_scores_gemma":[0.9853961,0.00003147621,0.00466293,0.00239512,0.0001383388,0.0001071022,0.00003275808,0.00003240455,0.007203764],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3914389,"threshold_uncertainty_score":0.9941555,"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."}}