{"id":"W4414258342","doi":"10.1101/2025.09.11.25335516","title":"FounderRare: A Novel Statistical Package to Identify Rare Variants in Complex Diseases","year":2025,"lang":"en","type":"preprint","venue":"medRxiv","topic":"Genetic Associations and Epidemiology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université du Québec à Chicoutimi; Université Laval","funders":"","keywords":"R package; Identification (biology); Population; Haplotype; Statistical model; Genome-wide association study; Statistical power; Genome","routes":{"ca_aff":true,"ca_fund":false,"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":[0.009917067,0.002006426,0.002415468,0.002891453,0.0007680602,0.002548011,0.004232014,0.001652407,0.07149852],"category_scores_gemma":[0.04895164,0.001681841,0.003313057,0.002566403,0.001244036,0.002317811,0.003912937,0.003960317,0.01653498],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006523622,"about_ca_system_score_gemma":0.003400361,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002710309,"about_ca_topic_score_gemma":0.002616665,"domain_scores_codex":[0.9950336,0.002527724,0.0004448698,0.0007581689,0.000966935,0.0002686513],"domain_scores_gemma":[0.9594123,0.03553779,0.001468965,0.002133604,0.0009895156,0.0004577483],"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":[0.001606433,0.0002512374,0.01262036,0.00428486,0.004080816,0.001737448,0.0008833997,0.0282209,0.005244271,0.05819397,0.6242152,0.2586612],"study_design_scores_gemma":[0.00277002,0.0005224624,0.01481288,0.001069994,0.001687741,0.00258482,0.0002024036,0.2515492,0.008347286,0.1927332,0.5232378,0.0004821071],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"methods","genre_gemma":"software","genre_scores_codex":[0.004056168,0.0007175152,0.8225182,0.0009076793,0.0004444243,0.0005097943,0.03687358,0.1314642,0.002508424],"genre_scores_gemma":[0.0533099,0.0007504856,0.8356037,0.001291812,0.0005111519,0.005696515,0.02418086,0.07257706,0.006078583],"genre_candidate":"software","genre_consensus":null,"teacher_disagreement_score":0.07149852,"threshold_uncertainty_score":0.2391863,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04555302769467273,"score_gpt":0.3557942663411159,"score_spread":0.3102412386464432,"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."}}