{"id":"W4411569309","doi":"10.1111/cge.14784","title":"<i>PMS2</i> <scp>c.2117del</scp> ( <scp>p.Lys706Serfs*19</scp> ) is the Most Frequent Cancer‐Associated Founder Pathogenic Variant in the French‐Canadian Population of Quebec, Canada","year":2025,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Mycobacterium research and diagnosis","field":"Medicine","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; Université Laval; McGill University Health Centre; Centre Hospitalier Universitaire de Sherbrooke; Centre Hospitalier de l’Université de Montréal; McGill University; Jewish General Hospital","funders":"Canadian Institutes of Health Research; Merck Canada; McGill University Health Centre; McGill University; Institut de recherche, Centre universitaire de santé McGill","keywords":"Founder effect; Genetics; PMS2; Cancer; Biology; Population; Medicine; Gerontology; Mutation; Gene; Haplotype; Genotype; Germline mutation; Environmental health","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"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":[0.0001954058,0.0003813581,0.0002187083,0.001103743,0.001389244,0.0004819774,0.0004789017,0.000321988,0.002742124],"category_scores_gemma":[0.0005463416,0.000117199,0.0002664403,0.001319001,0.0005100124,0.0000721461,0.000210318,0.0002684721,0.0002164109],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.003598328,"about_ca_system_score_gemma":0.002829672,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.8931486,"about_ca_topic_score_gemma":0.9181694,"domain_scores_codex":[0.9997128,0.00001890384,0.00001697129,0.00008577687,0.00009831468,0.00006729217],"domain_scores_gemma":[0.9996613,0.00003668171,0.0001017429,0.00001432669,0.0001149339,0.00007102192],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002526976,0.00004198862,0.9628716,0.00007327235,0.0001296864,0.001531789,0.0004974182,0.0003623516,0.01584064,0.0002580264,0.002038826,0.01610176],"study_design_scores_gemma":[0.00001474805,0.00005034238,0.9918636,0.00002544783,0.00005584001,0.002067219,0.0003771139,0.0004325688,0.001623129,0.00003856797,0.003438901,0.00001264869],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9962187,0.0005680504,0.0002573422,0.0001482686,0.000008794394,0.00001934792,0.00151305,0.00001432304,0.001252226],"genre_scores_gemma":[0.9977,0.0002993138,0.0002916773,0.00005349335,0.000007447252,0.000005626694,0.000658232,0.000004224411,0.0009798765],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1068514,"threshold_uncertainty_score":0.2149613,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03751010228527363,"score_gpt":0.3354984952759402,"score_spread":0.2979883929906666,"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."}}