{"id":"W4388646039","doi":"10.1007/s10689-023-00350-3","title":"Functional and phenotypic consequences of an unusual inversion in MSH2","year":2023,"lang":"en","type":"letter","venue":"Familial Cancer","topic":"Genetic factors in colorectal cancer","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University Health Centre; Université de Montréal; Centre Hospitalier de l’Université de Montréal; McGill University; Jewish General Hospital","funders":"Canadian Institutes of Health Research; National Institutes of Health; National Cancer Institute; Colorectal Cancer Alliance","keywords":"MSH6; MSH2; PMS2; Lynch syndrome; Biology; Germline mutation; Germline; Genetics; MLH1; Cancer research; DNA mismatch repair; DNA repair; Gene; Mutation","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0001258921,0.0002469251,0.0005045275,0.0002858528,0.00003065655,0.000008026377,0.000101224,0.0006025364,0.0004643707],"category_scores_gemma":[0.00008043049,0.0002255276,0.00006809381,0.0003000789,0.0004451099,0.00004721418,0.00006828579,0.0009056624,0.00001918761],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003156503,"about_ca_system_score_gemma":0.000777117,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004267798,"about_ca_topic_score_gemma":0.001318749,"domain_scores_codex":[0.9982756,0.00007463196,0.0003316528,0.000480096,0.0005511197,0.0002868689],"domain_scores_gemma":[0.9993224,0.0001268962,0.0001290692,0.0002257806,0.000123087,0.0000727693],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"observational","study_design_scores_codex":[0.0008084007,0.00003462192,0.0246409,0.0009069915,0.0001040232,0.000268219,0.0003510668,0.000088267,0.009695559,0.000006895787,0.9563043,0.006790817],"study_design_scores_gemma":[0.00766377,0.003347046,0.507035,0.002666578,0.0007133234,0.00009345156,0.00065293,0.000835161,0.0228011,0.002193204,0.4504324,0.001565952],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.917618,0.0011985,0.00000360947,0.07612887,0.003478701,0.0005372858,0.0003040778,0.00006048102,0.0006705055],"genre_scores_gemma":[0.5979403,0.001585118,0.00043238,0.3805789,0.009958263,0.0003430257,0.0009690563,0.0001973268,0.007995583],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5058718,"threshold_uncertainty_score":0.9196747,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04927404207983,"score_gpt":0.2978374341694597,"score_spread":0.2485633920896297,"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."}}