{"id":"W1965771219","doi":"10.1159/000363443","title":"Using Gene Genealogies to Detect Rare Variants Associated with Complex Traits","year":2014,"lang":"en","type":"article","venue":"Human Heredity","topic":"Genetic Associations and Epidemiology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":6,"is_retracted":false,"has_abstract":true,"ca_institutions":"Simon Fraser University; McGill University; Jewish General Hospital; University of Ottawa","funders":"Natural Sciences and Engineering Research Council of Canada; Canadian Institutes of Health Research","keywords":"Biology; Tree (set theory); Statistic; Population; Genetics; Haplotype; Genetic association; Genetic variation; Evolutionary biology; Computational biology; Gene; Statistics; Allele; Single-nucleotide polymorphism; Genotype; Mathematics; 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":[],"consensus_categories":[],"category_scores_codex":[0.0004087686,0.0001728197,0.0002562088,0.00003530677,0.0002626947,0.00002064326,0.0001930145,0.0001948701,0.00005317832],"category_scores_gemma":[0.0004102461,0.0001566077,0.00006253739,0.00009243335,0.00006279978,0.000002433444,0.00009876548,0.000081678,0.00000950738],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003991554,"about_ca_system_score_gemma":0.0000444318,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00006940102,"about_ca_topic_score_gemma":0.0005397084,"domain_scores_codex":[0.9986712,0.0002469784,0.0002268591,0.0003786886,0.0001124154,0.0003638593],"domain_scores_gemma":[0.9993234,0.00003456424,0.0001319768,0.0002673581,0.0001290258,0.0001137362],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.00004667576,0.00008211132,0.04326755,0.00001136804,0.0002235497,0.000004668659,0.000116117,0.003205641,0.9394374,0.00006850087,0.01029417,0.003242275],"study_design_scores_gemma":[0.0006563072,0.000542433,0.9870962,0.00001124718,0.00004078013,0.00001175321,0.0000257508,0.0006293882,0.006136119,0.0005159904,0.004028162,0.0003058915],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9709348,0.00003548766,0.02779458,0.00006643636,0.00008435953,0.0001655999,0.0000553511,0.00002975006,0.0008336513],"genre_scores_gemma":[0.9874981,0.000003568921,0.01122189,0.0004734485,0.0003999623,0.00001394093,0.000200487,0.00002501594,0.0001635913],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.9438286,"threshold_uncertainty_score":0.6386277,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.08093057822295222,"score_gpt":0.3092738918425877,"score_spread":0.2283433136196355,"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."}}