{"id":"W3216417141","doi":"10.1101/2021.11.18.21266545","title":"Global biobank analyses provide lessons for developing polygenic risk scores across diverse cohorts","year":2021,"lang":"en","type":"preprint","venue":"medRxiv","topic":"Genetic Associations and Epidemiology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":25,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; Ontario Institute for Cancer Research","funders":"Moonshot Research and Development Program; National Human Genome Research Institute; St. Olavs Hospital Universitetssykehuset i Trondheim; Japan Society for the Promotion of Science; National Institute on Aging; Fakultet for medisin og helsevitenskap, Norges Teknisk-Naturvitenskapelige Universitet; Japan Agency for Medical Research and Development; European Commission; National Institutes of Health; Eesti Teadusagentuur; Stiftelsen Kristian Gerhard Jebsen; Faculty of Medicine and Health, University of Sydney; Departamento Administrativo de Ciencia, Tecnología e Innovación (COLCIENCIAS)","keywords":"Biobank; Heritability; Genome-wide association study; Genetic architecture; Concordance; Genetic association; Missing heritability problem; Disease; Precision medicine; Medicine; Quantitative trait locus; Biology; Genetic variants; Bioinformatics; Genetics; Single-nucleotide polymorphism; Internal medicine; Environmental health; Population; Genotype","routes":{"ca_aff":true,"ca_fund":false,"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":[0.07489688,0.001838111,0.002142861,0.004687557,0.0009843732,0.004676069,0.002325913,0.001284326,0.00429461],"category_scores_gemma":[0.1235966,0.001080101,0.00274103,0.00504286,0.001684363,0.004141848,0.004924389,0.00418687,0.001375875],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0008529554,"about_ca_system_score_gemma":0.002124949,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.009199012,"about_ca_topic_score_gemma":0.00977821,"domain_scores_codex":[0.9796067,0.01528318,0.001139302,0.002720656,0.0009547067,0.000295535],"domain_scores_gemma":[0.9182797,0.04158458,0.00619089,0.02645335,0.005786379,0.00170506],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0008088938,0.0001800718,0.5349229,0.0009436953,0.01237624,0.0004941712,0.003765718,0.03324256,0.00222815,0.05237142,0.05610484,0.3025613],"study_design_scores_gemma":[0.0004135688,0.000398629,0.249485,0.002189743,0.003664665,0.0004772462,0.002206049,0.100494,0.001941941,0.5809339,0.05745476,0.0003406142],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"methods","genre_gemma":"empirical","genre_scores_codex":[0.1848975,0.009241425,0.7552724,0.02518482,0.001007229,0.0005706683,0.0122223,0.002910812,0.008692782],"genre_scores_gemma":[0.6106098,0.002700334,0.3684428,0.00524046,0.000683339,0.0006583933,0.00938235,0.001294798,0.0009877632],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.07489688,"threshold_uncertainty_score":0.3960973,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.07198958106707898,"score_gpt":0.3958613972595285,"score_spread":0.3238718161924495,"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."}}