{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001218141,0.0006453376,0.0002545592,0.0008629954,0.0001792184,0.0001334479,0.0001460037,0.0004465946,0.001826992],"category_scores_gemma":[0.0006288178,0.0001605893,0.0001960473,0.0005408249,0.0002385483,0.0001123819,0.0002381672,0.0001501273,0.0003251639],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001172414,"about_ca_system_score_gemma":0.0001119672,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004145678,"about_ca_topic_score_gemma":0.0004907149,"domain_scores_codex":[0.9998661,0.00002862048,0.00001550506,0.0000342737,0.000035083,0.00002046779],"domain_scores_gemma":[0.9996984,0.00008726702,0.0001270779,0.00001690686,0.00001781061,0.00005264072],"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":[0.001470559,0.0002599322,0.3467311,0.0005508426,0.000357233,0.1712147,0.0005193354,0.0006429208,0.4399315,0.0006119031,0.001144785,0.0365651],"study_design_scores_gemma":[0.00009082658,0.0008206911,0.6494564,0.00007106686,0.0002545607,0.3165408,0.0002876821,0.001142886,0.02597041,0.0005409683,0.004793545,0.00003013997],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9974706,0.00112373,0.0003989706,0.00004057572,0.00001153452,0.00001040982,0.000104041,0.0000458383,0.0007943432],"genre_scores_gemma":[0.9985325,0.0007482792,0.0002842802,0.00002500789,0.00001856969,0.000003760516,0.000124668,0.00000552428,0.0002573384],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001826992,"threshold_uncertainty_score":0.00611192,"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."}}