{"id":"W7084500194","doi":"10.1111/cge.14784/v1/review1","title":"Review for \"<i>PMS2</i> c.2117del (p.Lys706Serfs*19) is the Most Frequent Cancer-Associated Founder Pathogenic Variant in the French-Canadian Population of Quebec, Canada\"","year":2025,"lang":"en","type":"peer-review","venue":"","topic":"Diphtheria, Corynebacterium, and Tetanus","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"","funders":"","keywords":"Population; Founder effect; Allele frequency; Haplotype; Mutation; Genetic variation","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":false,"about_ca":true,"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":[0.00518562,0.0007079294,0.001616476,0.003848974,0.002394963,0.003483647,0.003198326,0.002751182,0.08290613],"category_scores_gemma":[0.02726304,0.0004442751,0.0009394908,0.003482526,0.001340261,0.002163458,0.001409517,0.00183033,0.03929956],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.007991555,"about_ca_system_score_gemma":0.03690352,"about_ca_topic_candidate":true,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.1458229,"about_ca_topic_score_gemma":0.3081697,"domain_scores_codex":[0.995977,0.0005600065,0.0004046625,0.0003365362,0.002310151,0.0004117224],"domain_scores_gemma":[0.950177,0.003188219,0.001464614,0.000698067,0.04155988,0.002912286],"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":[0.00001657356,0.00000351957,0.00009913542,0.001264381,0.00001443023,0.00004408717,0.00002656788,0.00001497735,0.0000692887,0.0002492682,0.9647486,0.0334491],"study_design_scores_gemma":[0.00001441024,0.000006112444,0.0007658586,0.001316851,0.00002906716,0.0001458114,0.00003692831,0.00001447853,0.00007195907,0.000154484,0.9974326,0.00001134782],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"review","genre_gemma":"other","genre_scores_codex":[0.001298683,0.3366986,0.002517905,0.3118069,0.2507048,0.0008934267,0.01543648,0.001138606,0.0795047],"genre_scores_gemma":[0.01448984,0.4504467,0.005248371,0.06639893,0.05623671,0.000765821,0.02273636,0.0009422608,0.3827351],"genre_candidate":"other","genre_consensus":null,"teacher_disagreement_score":0.8541771,"threshold_uncertainty_score":0.2899482,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01773184973587843,"score_gpt":0.2685093300254872,"score_spread":0.2507774802896088,"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."}}