{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0008892721,0.0003095982,0.0002252529,0.0007894498,0.0001768385,0.0003401761,0.0001996471,0.0002614173,0.001151045],"category_scores_gemma":[0.004156238,0.0001315719,0.0001188816,0.0004387288,0.00029478,0.0001873344,0.0004047464,0.0002996206,0.000175136],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001282892,"about_ca_system_score_gemma":0.000102272,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004281476,"about_ca_topic_score_gemma":0.0005182346,"domain_scores_codex":[0.9995391,0.0001203496,0.00006546303,0.0001532047,0.00008913114,0.00003284807],"domain_scores_gemma":[0.9975152,0.0009910845,0.0008968915,0.00014821,0.0002210388,0.0002275789],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002177526,0.00001516148,0.9921535,0.00001091549,0.00002796085,0.0001910377,0.00004209198,0.0001308464,0.003995673,0.00002348077,0.00005975475,0.003131796],"study_design_scores_gemma":[0.00001484581,0.000312873,0.9929596,0.000009223154,0.00004144042,0.002953759,0.00006231276,0.0008554296,0.00243613,0.0000887123,0.0002589386,0.000006755601],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9991641,0.0002124896,0.0003271477,0.00001592972,0.000002401771,0.000005134813,0.0001044408,0.000006635291,0.0001618034],"genre_scores_gemma":[0.9994653,0.00003975294,0.0003337704,0.000009829817,0.000004635733,0.000003493693,0.0001060864,0.000002466795,0.00003470026],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001151045,"threshold_uncertainty_score":0.004702985,"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."}}