{"id":"W4294286775","doi":"10.1038/s42003-022-03795-x","title":"The Polygenic Risk Score Knowledge Base offers a centralized online repository for calculating and contextualizing polygenic risk scores","year":2022,"lang":"en","type":"article","venue":"Communications Biology","topic":"Genetic Associations and Epidemiology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":16,"is_retracted":false,"has_abstract":true,"ca_institutions":"Parkwood Institute; St Joseph's Health Care; Sunnybrook Health Science Centre; University of British Columbia; McGill University; Jewish General Hospital","funders":"National Institute on Aging; University of California, San Francisco; National Institute of Biomedical Imaging and Bioengineering; Canadian Institutes of Health Research; University of California, Los Angeles; Genentech; National Institutes of Health; IXICO; National Institute of General Medical Sciences; H. Lundbeck A/S; Servier; Jewish General Hospital; Eisai; Northern California Institute for Research and Education; McGill University; Pfizer; Northwestern University; Biogen; BioClinica; F. Hoffmann-La Roche; Brigham Young University; University of Southern California; Novartis Pharmaceuticals Corporation; U.S. Department of Defense; BrightFocus Foundation; Eli Lilly and Company; Bristol-Myers Squibb; Alzheimer's Association; Yale University; U.S. Department of Health and Human Services; University of California, Irvine; Georgetown University; Foundation for the National Institutes of Health; University of Kentucky; Emory University; Brigham and Women's Hospital; Alzheimer's Disease Neuroimaging Initiative; Medical Research Council; Meso Scale Diagnostics","keywords":"Polygenic risk score; Biobank; Genome-wide association study; Confounding; Computer science; Calculator; Bioinformatics; Medicine; Biology; Genetics; Single-nucleotide polymorphism; 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":"codex-gemma-dda1882f352a","candidate_categories":["sts"],"consensus_categories":[],"category_scores_codex":[0.001186116,0.0001760498,0.0002500997,0.00005577513,0.002965423,0.00002139176,0.0007899017,0.0001474781,0.000005949072],"category_scores_gemma":[0.001620171,0.0001493463,0.000174286,0.0001339587,0.0004856164,0.000002871023,0.001085914,0.000321131,0.000001121192],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00006129769,"about_ca_system_score_gemma":0.0001828162,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00045472,"about_ca_topic_score_gemma":0.001383043,"domain_scores_codex":[0.9966819,0.001965893,0.0005034687,0.0003796889,0.00004285868,0.0004261553],"domain_scores_gemma":[0.9968914,0.001080677,0.0004702544,0.001341569,0.0001269512,0.00008918456],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003224773,0.0003685229,0.9040153,0.00001689819,0.0007685192,3.909264e-7,0.001090873,0.0004036923,0.05206259,0.004650448,0.003595349,0.03270496],"study_design_scores_gemma":[0.008471003,0.002754055,0.4529789,0.000042931,0.0009980168,0.0001791371,0.01375781,0.0669276,0.002371801,0.007420905,0.442394,0.0017038],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9616763,0.03413092,0.001633492,0.0009677787,0.0002704356,0.0005440902,0.0005930387,0.00002493595,0.0001590306],"genre_scores_gemma":[0.9881491,0.006076797,0.003802875,0.0001948977,0.0001071917,0.0003608403,0.0009872714,0.00002578164,0.0002952566],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4510364,"threshold_uncertainty_score":0.9983326,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03780293799926343,"score_gpt":0.3225742754686993,"score_spread":0.2847713374694359,"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."}}