{"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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.001166104,0.0006761668,0.001106659,0.0001051175,0.0002273591,0.00006427409,0.001282534,0.0005500976,0.0005727414],"category_scores_gemma":[0.0007038015,0.0004537566,0.0005243392,0.0005630077,0.00008612818,0.000009055067,0.0001232907,0.0003209365,0.000002344145],"about_ca_system_candidate":true,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0008020761,"about_ca_system_score_gemma":0.00835993,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.9671476,"about_ca_topic_score_gemma":0.9996857,"domain_scores_codex":[0.9961412,0.0005032229,0.001222936,0.0008602672,0.0005211485,0.0007512253],"domain_scores_gemma":[0.9968047,0.0001373255,0.0007480759,0.001442584,0.0006696615,0.0001976157],"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":[0.000009250388,0.00006132518,0.00003004772,0.003414052,0.00041795,0.00001283247,0.00002628277,0.000004469327,0.0009355689,0.0002204004,0.9861221,0.008745747],"study_design_scores_gemma":[0.0004112516,0.00006516253,0.002065018,0.004744568,0.0008210147,0.00001168197,0.00000992889,0.00001877279,0.0000606365,0.0001307787,0.9911261,0.0005350708],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.001852269,0.8444089,0.0001204166,0.1171795,0.003515329,0.007190244,0.01257616,0.00002472658,0.01313252],"genre_scores_gemma":[0.04432605,0.5084274,0.0001358721,0.1750027,0.0009493385,0.00294521,0.03521352,0.0002055198,0.2327945],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.3359815,"threshold_uncertainty_score":0.9997914,"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."}}