{"id":"W3014859124","doi":"10.1002/gepi.22291","title":"Gene‐based and pathway‐based testing for rare‐variant association in affected sib pairs","year":2020,"lang":"en","type":"article","venue":"Genetic Epidemiology","topic":"Genetic Associations and Epidemiology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"Public Health Ontario; University of Manitoba; Sinai Health System; Lunenfeld-Tanenbaum Research Institute; University of Toronto; George & Fay Yee Centre for Healthcare Innovation; Manitoba Health","funders":"Natural Sciences and Engineering Research Council of Canada; Ontario Institute for Cancer Research; Canadian Breast Cancer Research Alliance; University of Toronto; Canadian Institutes of Health Research; Emory University","keywords":"Genetics; Biology; Minor allele frequency; Allele; Locus (genetics); Population stratification; Haplotype; Allelic heterogeneity; Penetrance; Allele frequency; Genetic association; Population; Type I and type II errors; Computational biology; Gene; Genotype; Single-nucleotide polymorphism; Statistics; Mathematics; Phenotype; Medicine","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["metaresearch","metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.002065395,0.0002909355,0.0006725891,0.00007795081,0.000121345,0.000008998474,0.0001985357,0.0006228413,0.00001330813],"category_scores_gemma":[0.02328826,0.0002968283,0.0001436539,0.0002246467,0.00007863118,0.00000270915,0.00008663856,0.0001869062,0.000007134782],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00007162138,"about_ca_system_score_gemma":0.0002537613,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00007186725,"about_ca_topic_score_gemma":0.0001006504,"domain_scores_codex":[0.9962921,0.001203802,0.0008287819,0.000840562,0.00008011357,0.0007546777],"domain_scores_gemma":[0.9967927,0.002028834,0.0005003798,0.0002910692,0.0001692627,0.0002177461],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001146993,0.00007084613,0.8922999,0.00006842947,0.00007168657,0.000007028069,0.0000415149,0.01509662,0.08056592,0.00004398922,0.003578185,0.008041163],"study_design_scores_gemma":[0.003452061,0.001761679,0.821936,0.00002294388,0.00007019794,0.00001092955,0.00005539282,0.1595726,0.005568905,0.001282392,0.005677637,0.0005893178],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8549209,0.001536279,0.1327929,0.009357668,0.0002036357,0.0008767789,0.0001204915,0.00004880184,0.0001424621],"genre_scores_gemma":[0.8379181,0.00004770429,0.1519071,0.00914099,0.0003531336,0.000230215,0.000328484,0.00003874817,0.00003554965],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.144476,"threshold_uncertainty_score":0.9999484,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0489698786529545,"score_gpt":0.2827177054358199,"score_spread":0.2337478267828654,"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."}}