{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.01034897,0.0006809676,0.0007308226,0.002364129,0.0005837418,0.001046146,0.001383386,0.0008752708,0.003781223],"category_scores_gemma":[0.03843194,0.0003045474,0.001315004,0.002183902,0.001213528,0.000573776,0.00187728,0.0008419328,0.000286306],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003227505,"about_ca_system_score_gemma":0.0007401652,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001220988,"about_ca_topic_score_gemma":0.001832728,"domain_scores_codex":[0.9874727,0.008518592,0.0006467945,0.002162572,0.0009715788,0.0002276863],"domain_scores_gemma":[0.9618399,0.03273701,0.001781167,0.00273318,0.0004546963,0.0004540235],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"simulation_or_modeling","study_design_scores_codex":[0.002028519,0.0003457036,0.7752705,0.0005133138,0.00325523,0.002376376,0.0005852815,0.04837409,0.02475171,0.01663467,0.0009603259,0.1249042],"study_design_scores_gemma":[0.000756485,0.001879624,0.5171576,0.0001195063,0.00144373,0.006385589,0.0004881878,0.3465705,0.03307376,0.0866847,0.00524419,0.0001962159],"study_design_candidate":"simulation_or_modeling","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"methods","genre_scores_codex":[0.8381592,0.0003146756,0.1555074,0.0002003568,0.00003437961,0.0001900761,0.002961558,0.0004553123,0.002177099],"genre_scores_gemma":[0.9527025,0.00006881586,0.04551902,0.00008339976,0.00001095746,0.0001895754,0.001154791,0.00004835562,0.0002227347],"genre_candidate":"methods","genre_consensus":null,"teacher_disagreement_score":0.01034897,"threshold_uncertainty_score":0.05473125,"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."}}