{"id":"W1974807162","doi":"10.1086/345075","title":"The Founder Mutation MSH2*1906G→C Is an Important Cause of Hereditary Nonpolyposis Colorectal Cancer in the Ashkenazi Jewish Population","year":2002,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Genetic factors in colorectal cancer","field":"Medicine","cited_by":134,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University; Jewish General Hospital; McGill University Health Centre","funders":"National Cancer Institute","keywords":"MSH2; Colorectal cancer; Genetics; Medicine; Population; MLH1; Founder effect; Mutation; Cancer; Genotype; Internal medicine; DNA mismatch repair; Biology; Haplotype; Gene","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":[],"consensus_categories":[],"category_scores_codex":[0.0007183291,0.000190856,0.0003949802,0.0001109918,0.0002129434,0.00003963227,0.0004630728,0.00004673169,0.0001287328],"category_scores_gemma":[0.0000645617,0.0001005929,0.0001504212,0.0004247597,0.0005331026,0.00006119425,0.00003663825,0.0004179478,0.000001448036],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001972808,"about_ca_system_score_gemma":0.00009615655,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006010309,"about_ca_topic_score_gemma":0.001319573,"domain_scores_codex":[0.997597,0.0003143038,0.0008636127,0.0001570918,0.0007812044,0.0002867272],"domain_scores_gemma":[0.9978517,0.0002600212,0.001113866,0.0004031904,0.0002803975,0.00009080952],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001305711,0.0007490958,0.7386762,0.00005859031,0.0009265229,0.0002227215,0.03236489,0.002794602,0.03465594,0.00006542253,0.005308198,0.1828721],"study_design_scores_gemma":[0.000879414,0.004842024,0.9810393,0.00007630678,0.0004223144,0.0006051222,0.004345305,0.001858527,0.004670324,0.0009617717,0.0001286412,0.0001709189],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9937204,0.003650889,0.00001490394,0.001850247,0.0003120367,0.000345091,0.00001492866,0.000005785911,0.00008570766],"genre_scores_gemma":[0.9972494,0.001297171,0.0002435076,0.0006753812,0.0004510741,0.00001516808,0.000003268502,0.0000335276,0.00003145613],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2423631,"threshold_uncertainty_score":0.4102058,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03568714426912335,"score_gpt":0.3210826514753199,"score_spread":0.2853955072061966,"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."}}