{"id":"W4313379732","doi":"10.1053/j.gastro.2022.12.017","title":"Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency","year":2022,"lang":"en","type":"article","venue":"Gastroenterology","topic":"Genetic factors in colorectal cancer","field":"Medicine","cited_by":27,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Jewish General Hospital; McGill University Health Centre","funders":"Manchester Biomedical Research Centre; Fondation Gustave Roussy; Università degli Studi G. d'Annunzio Chieti - Pescara; Third Health Programme; Università Cattolica del Sacro Cuore; European Commission; Cancer Research UK; Newcastle University; Institut Gustave-Roussy; University of Leeds; National Institute for Health and Care Research; University of Nottingham; University College London; Queen Mary University of London","keywords":"Microsatellite instability; DNA mismatch repair; Genotype; Lynch syndrome; MSH6; MSH2; Microsatellite; Cohort; Amplicon; Genetics; Medicine; Internal medicine; Allele; Cancer; Oncology; Biology; Colorectal cancer; Gene; Polymerase chain reaction","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":[0.0002656961,0.0001295577,0.0002322734,0.0001168021,0.000194734,0.000005579869,0.0000780621,0.0000573374,0.0009575572],"category_scores_gemma":[0.00008630658,0.0001398697,0.00006068618,0.0001725932,0.001964037,0.00003298467,0.0002005508,0.0003720264,0.00001469217],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002831326,"about_ca_system_score_gemma":0.0002873557,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004230441,"about_ca_topic_score_gemma":0.0001199303,"domain_scores_codex":[0.9986382,0.0001243272,0.0003301392,0.0003710102,0.0002156533,0.0003206635],"domain_scores_gemma":[0.9995165,0.00007163494,0.00006384618,0.0001876906,0.00006864809,0.00009163652],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0008157665,0.0002451345,0.9828581,0.00002460041,0.00002183549,0.00004092291,0.0001958478,0.0009617517,0.002392309,0.01190142,0.0003676305,0.0001747362],"study_design_scores_gemma":[0.003037021,0.001258972,0.9778039,0.00001366187,0.00005590576,0.001800741,0.0001886419,0.0006860938,0.00005033239,0.001041031,0.01393778,0.0001259471],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9937509,0.0006019957,0.001268119,0.0009082487,0.000619724,0.0003984523,0.000108017,0.00005438842,0.002290137],"genre_scores_gemma":[0.9956508,0.00002048848,0.002821705,0.001233607,0.00003459952,0.00008321525,0.00009170237,0.000005181058,0.00005875154],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01357015,"threshold_uncertainty_score":0.9999557,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01612737027015023,"score_gpt":0.2545168733398096,"score_spread":0.2383895030696594,"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."}}