{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004983409,0.0008882632,0.0007053736,0.0005460261,0.001091997,0.0008716272,0.0007959886,0.01037352,0.002287197],"category_scores_gemma":[0.004729653,0.0002611196,0.0008333605,0.0004278202,0.001413728,0.0005643498,0.0004743453,0.004866865,0.0006687371],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001169889,"about_ca_system_score_gemma":0.0004576415,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002419684,"about_ca_topic_score_gemma":0.00228332,"domain_scores_codex":[0.9994649,0.0001276827,0.00005463875,0.00009709323,0.000103881,0.0001517209],"domain_scores_gemma":[0.9983297,0.001098556,0.0001406436,0.00006263846,0.0001116234,0.0002568404],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.000395422,0.00006793858,0.005507248,0.00004353247,0.00004492325,0.9482233,0.0001928223,0.0004100066,0.005415306,0.00302245,0.0306699,0.006007045],"study_design_scores_gemma":[0.0002523692,0.0003593322,0.01172941,0.0000665112,0.0001381098,0.9364159,0.0003764862,0.003225985,0.004205262,0.003632975,0.03954273,0.00005499179],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"commentary","genre_gemma":"empirical","genre_scores_codex":[0.4384093,0.004742292,0.002903656,0.4901867,0.02320636,0.00008995744,0.0009204994,0.0003384728,0.03920276],"genre_scores_gemma":[0.882034,0.001660216,0.001681687,0.07565929,0.02563672,0.00004402817,0.0001738585,0.0001078516,0.01300238],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.01037352,"threshold_uncertainty_score":0.008488178,"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."}}