{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.06595579,0.001689919,0.004150067,0.003209911,0.0008904193,0.003082493,0.003360866,0.002390992,0.009943579],"category_scores_gemma":[0.1266274,0.001676073,0.002676373,0.006959392,0.001363043,0.003268928,0.003780959,0.003408949,0.002717442],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001030576,"about_ca_system_score_gemma":0.002500244,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001882619,"about_ca_topic_score_gemma":0.003124277,"domain_scores_codex":[0.9544513,0.0384931,0.001571969,0.001869231,0.003112718,0.0005016687],"domain_scores_gemma":[0.8906168,0.08824647,0.004462332,0.01143068,0.004522142,0.0007216069],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"theoretical_or_conceptual","study_design_scores_codex":[0.002169001,0.0004149485,0.04090154,0.002300825,0.006451851,0.0004705535,0.0005718409,0.07269434,0.00775515,0.04347022,0.02134341,0.8014565],"study_design_scores_gemma":[0.002469618,0.001547911,0.04775005,0.002132939,0.005129035,0.001909247,0.0005177894,0.3955782,0.01325983,0.4403893,0.08874039,0.0005757472],"study_design_candidate":"theoretical_or_conceptual","study_design_consensus":null,"genre_codex":"methods","genre_gemma":"methods","genre_scores_codex":[0.01207854,0.006069396,0.9714383,0.00432296,0.0004914259,0.000592243,0.001453042,0.001200452,0.002353674],"genre_scores_gemma":[0.1227532,0.004323876,0.8639465,0.002555922,0.0007908237,0.001593553,0.002086776,0.0005028941,0.001446489],"genre_candidate":"methods","genre_consensus":"methods","teacher_disagreement_score":0.06595579,"threshold_uncertainty_score":0.3488117,"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."}}