{"id":"W2518965474","doi":"10.1002/humu.23117","title":"Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24<i>MLH1</i>and<i>MSH2</i>Gene Variants","year":2016,"lang":"en","type":"article","venue":"Human Mutation","topic":"Genetic factors in colorectal cancer","field":"Medicine","cited_by":37,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Direction Générale de l’offre de Soins; European Research Council; Institute of Genetics; National Institutes of Health; Karolinska Institutet; Institut National Du Cancer; National Health and Medical Research Council; Kuwait University; Cardiff University; Fondation ARC pour la Recherche sur le Cancer; University of New South Wales; Western Sydney University; National Cancer Institute; Istituto Toscano Tumori","keywords":"Biology; MLH1; MSH2; Genetics; Lynch syndrome; Gene; Germline; Computational biology; DNA mismatch repair; Germline mutation; Population; Allele; Mutation; Bioinformatics; DNA repair","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.03681027,0.0007492676,0.00120776,0.006135535,0.001203957,0.002384332,0.001985637,0.001115404,0.0010671],"category_scores_gemma":[0.08766969,0.0002890558,0.00146628,0.00235509,0.001240779,0.001129414,0.001970867,0.001270724,0.0003831592],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001073915,"about_ca_system_score_gemma":0.002358811,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002130079,"about_ca_topic_score_gemma":0.003232282,"domain_scores_codex":[0.9776563,0.009969577,0.005521472,0.001734714,0.004374438,0.0007434984],"domain_scores_gemma":[0.9180307,0.04175389,0.01035611,0.008273294,0.01980358,0.001782391],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001668248,0.0002608487,0.6615303,0.0009477957,0.0006122774,0.001284495,0.001972313,0.003432826,0.01978921,0.002686407,0.005690363,0.3001249],"study_design_scores_gemma":[0.0005250839,0.002631989,0.7905729,0.00185261,0.004266429,0.01185804,0.003413501,0.06451069,0.06247438,0.01688838,0.04058804,0.0004179629],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.7866861,0.005060493,0.1895888,0.003387352,0.0006162465,0.001784883,0.003401032,0.0009106325,0.008564458],"genre_scores_gemma":[0.7856231,0.0006034651,0.2091803,0.0005763793,0.0001694494,0.0004673149,0.002759556,0.0001411645,0.0004793867],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.03681027,"threshold_uncertainty_score":0.1946736,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.09546807790021361,"score_gpt":0.421996725029897,"score_spread":0.3265286471296834,"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."}}