{"id":"W3033457525","doi":"10.1002/gepi.22326","title":"Sequencing and imputation in GWAS: Cost‐effective strategies to increase power and genomic coverage across diverse populations","year":2020,"lang":"en","type":"article","venue":"Genetic Epidemiology","topic":"Genetic Associations and Epidemiology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":83,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Center for Advancing Translational Sciences; National Institute of Diabetes and Digestive and Kidney Diseases; National Institute of General Medical Sciences; National Human Genome Research Institute; Helsingin ja Uudenmaan Sairaanhoitopiiri; National Heart, Lung, and Blood Institute; National Institutes of Health; Sydäntutkimussäätiö; Diabetestutkimussäätiö; Academy of Finland; Samfundet Folkhälsan; Austrian Science Fund; Canadian Institutes of Health Research; Bundesministerium für Gesundheit; Bundesministerium für Bildung und Forschung; European Regional Development Fund; European Commission; British Heart Foundation; Helmholtz Zentrum München; National Institute for Health and Care Research; National Institute on Drug Abuse; Folkhälsanin Tutkimussäätiö; Fondazione di Sardegna; Finska Läkaresällskapet; Foundation for Cardiovascular Research; Andrea and Charles Bronfman Philanthropies","keywords":"Imputation (statistics); Genome-wide association study; Biology; Statistics; Computational biology; Genetics; Single-nucleotide polymorphism; Mathematics; Genotype; Missing data; Gene","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000775023,0.0002066173,0.00041897,0.00005047006,0.0001288188,0.00001509072,0.0001028946,0.0002611848,0.000008812332],"category_scores_gemma":[0.002055667,0.000212297,0.00004991317,0.0001179307,0.0001276233,0.000007568666,0.0002661366,0.0001403841,0.00001080195],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005477766,"about_ca_system_score_gemma":0.00007728342,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006004188,"about_ca_topic_score_gemma":0.0006856644,"domain_scores_codex":[0.9976958,0.0006882104,0.0004829591,0.0006264925,0.00004066772,0.000465877],"domain_scores_gemma":[0.9990885,0.000272339,0.0001596112,0.0001774221,0.00005485216,0.0002472698],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001329467,0.00001847629,0.8769792,0.00002437613,0.00006126917,0.00001006379,0.001944725,0.05944349,0.04100071,0.0003959025,0.0005269198,0.0194619],"study_design_scores_gemma":[0.0006519374,0.0004553541,0.9897407,0.000006676399,0.0000184231,0.00002580832,0.001186142,0.003397592,0.00006837657,0.003061543,0.001155908,0.0002315927],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9488562,0.001078991,0.04774851,0.001266118,0.00008042201,0.0007626964,0.00006442564,0.00001262876,0.0001300112],"genre_scores_gemma":[0.9832335,0.0003449917,0.01198063,0.004078458,0.0001047697,0.0001363111,0.00008852076,0.00001845473,0.00001432769],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1127614,"threshold_uncertainty_score":0.8657219,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03546604289215807,"score_gpt":0.3328413879526971,"score_spread":0.297375345060539,"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."}}