{"id":"W4406783945","doi":"10.1101/2025.01.21.25320907","title":"Rare variants and founder effect in an understudied Quebec population","year":2025,"lang":"en","type":"preprint","venue":"medRxiv","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université Laval; Université du Québec à Chicoutimi","funders":"Canadian Institutes of Health Research","keywords":"Founder effect; Population; Geography; Genealogy; Demography; History; Biology; Genetics; Sociology; Genotype; Haplotype; Gene","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":[0.001000625,0.0003264165,0.0005132896,0.001704157,0.00248855,0.001421806,0.0007293719,0.0004370858,0.007780146],"category_scores_gemma":[0.002356291,0.0001234379,0.0003164439,0.002338619,0.001253959,0.0002955719,0.0005008739,0.0006204398,0.0002207795],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.01017864,"about_ca_system_score_gemma":0.006716879,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.9646558,"about_ca_topic_score_gemma":0.976401,"domain_scores_codex":[0.9993886,0.00009978475,0.00002267915,0.0002397177,0.000107662,0.000141553],"domain_scores_gemma":[0.9986531,0.000359301,0.0002521355,0.0001230205,0.0004078226,0.0002045374],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.000443171,0.0000458808,0.9183134,0.0001373732,0.0005669708,0.002174954,0.003147105,0.001799142,0.005797999,0.003006266,0.01242266,0.05214497],"study_design_scores_gemma":[0.00003547639,0.00004511003,0.9791556,0.0001327132,0.0001606983,0.0008155564,0.0014175,0.002158565,0.0005668671,0.0006037993,0.01486371,0.00004445012],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.979687,0.002789693,0.002715686,0.001485597,0.00005251152,0.00006734309,0.007180213,0.00008187837,0.005940059],"genre_scores_gemma":[0.9953822,0.0004617768,0.0007423181,0.000298766,0.00001721565,0.00001530218,0.001032493,0.00002166629,0.002028235],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.03534424,"threshold_uncertainty_score":0.07385153,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01288501315186613,"score_gpt":0.2777876994155674,"score_spread":0.2649026862637013,"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."}}