{"id":"W2093026817","doi":"10.1002/humu.20502","title":"A new variant database for mismatch repair genes associated with Lynch syndrome","year":2007,"lang":"en","type":"article","venue":"Human Mutation","topic":"Genetic factors in colorectal cancer","field":"Medicine","cited_by":125,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; Memorial University of Newfoundland","funders":"","keywords":"Lynch syndrome; MSH6; PMS2; MLH1; MSH2; Biology; DNA mismatch repair; Genetics; Gene; Colorectal cancer; Cancer; Mutation","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":[0.0005878788,0.0008203607,0.0009795009,0.006542044,0.0005213783,0.00133044,0.001313073,0.001040378,0.03005875],"category_scores_gemma":[0.004571039,0.0004187031,0.0006172036,0.005245438,0.0001542771,0.00108925,0.001075642,0.0008465459,0.01114743],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004058416,"about_ca_system_score_gemma":0.001303605,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005702651,"about_ca_topic_score_gemma":0.0111608,"domain_scores_codex":[0.9995074,0.00005823083,0.0001552422,0.0001034095,0.0001362272,0.00003949011],"domain_scores_gemma":[0.9976412,0.0007723187,0.0004363339,0.0003846124,0.0004341129,0.0003314],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.002594736,0.0003897582,0.0649974,0.003894228,0.0005797995,0.006758769,0.0006084092,0.002800207,0.02490795,0.006257335,0.5100405,0.3761708],"study_design_scores_gemma":[0.0002851173,0.0001968801,0.07089711,0.0003714667,0.0004183985,0.00911564,0.0001816303,0.003718704,0.006768551,0.003278179,0.9046312,0.0001371212],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"dataset","genre_gemma":"empirical","genre_scores_codex":[0.0345755,0.005292996,0.01690624,0.001071202,0.0005402388,0.0004207844,0.9075177,0.01278042,0.02089498],"genre_scores_gemma":[0.04097915,0.002669804,0.0242307,0.0005341371,0.0001630946,0.0003114292,0.920149,0.001154764,0.009807945],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.03005875,"threshold_uncertainty_score":0.1005565,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03187902765628821,"score_gpt":0.3104631958607776,"score_spread":0.2785841682044894,"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."}}