{"id":"W1990430353","doi":"10.1038/ng.2852","title":"Meta-analysis of gene-level tests for rare variant association","year":2013,"lang":"en","type":"review","venue":"Nature Genetics","topic":"Genetic Associations and Epidemiology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":222,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Ottawa","funders":"National Human Genome Research Institute; National Institute on Drug Abuse; National Heart, Lung, and Blood Institute; Canadian Institutes of Health Research; National Institutes of Health; Novo Nordisk Fonden; National Eye Institute; Wellcome Trust","keywords":"Meta-analysis; Biology; Genetic association; Exome; Genetics; Computational biology; Sample size determination; Exome sequencing; Gene; Mutation; Genotype; Single-nucleotide polymorphism; Statistics; Medicine; Internal 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":[0.02433679,0.002344581,0.009588096,0.003619632,0.0002633412,0.001897035,0.00412772,0.00201503,0.003036393],"category_scores_gemma":[0.05702567,0.00109409,0.008801095,0.004768639,0.0008262864,0.001278545,0.001313302,0.002509827,0.0005442291],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0008397952,"about_ca_system_score_gemma":0.002074777,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002381608,"about_ca_topic_score_gemma":0.004616289,"domain_scores_codex":[0.9860094,0.008628904,0.001465134,0.002116892,0.001584793,0.0001948632],"domain_scores_gemma":[0.9171751,0.07628106,0.002360517,0.002090861,0.001812766,0.0002796504],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"meta_analysis","study_design_scores_codex":[0.002417913,0.0000806879,0.01929772,0.03355328,0.1623829,0.0005426729,0.000070361,0.003778042,0.0008703015,0.003337155,0.01248882,0.7611802],"study_design_scores_gemma":[0.003863753,0.002247485,0.083784,0.02952103,0.5936732,0.00867505,0.0002701604,0.01679729,0.005006502,0.1037047,0.1518124,0.000644473],"study_design_candidate":"meta_analysis","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.001477271,0.9855551,0.01067588,0.0009183986,0.000418456,0.00002979098,0.0004789824,0.00009803419,0.0003481076],"genre_scores_gemma":[0.07231897,0.8863882,0.03203949,0.003347806,0.0029034,0.0002358862,0.001884429,0.0001664711,0.0007153918],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.02433679,"threshold_uncertainty_score":0.1287068,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1178746992775916,"score_gpt":0.3738127756915446,"score_spread":0.2559380764139531,"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."}}