{"id":"W1971467793","doi":"10.1053/j.gastro.2014.06.009","title":"Germline Mutation of RPS20, Encoding a Ribosomal Protein, Causes Predisposition to Hereditary Nonpolyposis Colorectal Carcinoma Without DNA Mismatch Repair Deficiency","year":2014,"lang":"en","type":"article","venue":"Gastroenterology","topic":"Genetic factors in colorectal cancer","field":"Medicine","cited_by":172,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; Hospital for Sick Children","funders":"European Research Council; Paulon Säätiö; Sigrid Juséliuksen Säätiö; Kuopion Yliopistollinen Sairaala; Academy of Finland; Agence Nationale de la Recherche; Päivikki ja Sakari Sohlbergin Säätiö; Association pour la Recherche sur le Cancer","keywords":"Genetics; Biology; Germline mutation; Exome sequencing; Mutation; Ribosomal protein; Gene; Ribosome; Cancer research; RNA","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0002713093,0.0002625593,0.0005270173,0.0002391412,0.00007397581,0.000007680938,0.0001458391,0.0001581673,0.00008108139],"category_scores_gemma":[0.0002290494,0.000252013,0.000164674,0.000187885,0.0001665226,0.00006735299,0.00010166,0.0002011479,0.00001471067],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001707793,"about_ca_system_score_gemma":0.00007877206,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002141456,"about_ca_topic_score_gemma":0.0003476644,"domain_scores_codex":[0.99782,0.0001866721,0.0005739283,0.0005263508,0.0003619687,0.0005310863],"domain_scores_gemma":[0.9989309,0.00005696066,0.0002116865,0.0003403425,0.0002432698,0.0002167824],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00328751,0.0002456558,0.6099642,0.0002088199,0.00005835647,0.00003930856,0.0006857167,0.0001093257,0.384788,0.00001229125,0.0002585265,0.0003423054],"study_design_scores_gemma":[0.002338302,0.01389546,0.8410292,0.000164307,0.0001999339,0.0007540537,0.0001508895,0.001815473,0.1394292,0.00003926237,0.00003091766,0.00015304],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9947363,0.00004259341,0.00249631,0.0006536905,0.0004790248,0.00119109,0.00004210676,0.0001338727,0.0002250876],"genre_scores_gemma":[0.9903462,0.00000157723,0.008547019,0.0004366947,0.0002889936,0.0002382069,0.00006118375,0.00003942806,0.00004067819],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2453588,"threshold_uncertainty_score":0.9999932,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009469845357860815,"score_gpt":0.2462546925869128,"score_spread":0.236784847229052,"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."}}