{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":["open_science"],"consensus_categories":[],"category_scores_codex":[0.009086904,0.002398416,0.002566001,0.01200994,0.001093379,0.005902381,0.004483344,0.002071125,0.05477258],"category_scores_gemma":[0.0409624,0.001993383,0.001799693,0.01009677,0.0006908463,0.00411605,0.005112664,0.002820733,0.02949668],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001719797,"about_ca_system_score_gemma":0.004905466,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.009265947,"about_ca_topic_score_gemma":0.01418861,"domain_scores_codex":[0.9964935,0.0007472677,0.0006173489,0.0008765985,0.001071847,0.0001934361],"domain_scores_gemma":[0.9737598,0.01541791,0.001797031,0.004742025,0.003329359,0.0009538091],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.001166123,0.0004345844,0.02499153,0.002950647,0.001139801,0.0009233176,0.0005289074,0.0132814,0.00206687,0.02098661,0.5136357,0.4178945],"study_design_scores_gemma":[0.001199707,0.0002428268,0.02390746,0.00169165,0.0009659289,0.001241488,0.0003120974,0.05991627,0.01056281,0.1626089,0.7367401,0.0006106877],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"methods","genre_gemma":"methods","genre_scores_codex":[0.006774398,0.001942604,0.4545279,0.001921005,0.0004167711,0.0008227418,0.3112678,0.1985902,0.02373658],"genre_scores_gemma":[0.06799646,0.003212599,0.4525417,0.001761405,0.0004840184,0.002045159,0.4397685,0.02403495,0.00815519],"genre_candidate":"methods","genre_consensus":"methods","teacher_disagreement_score":0.9955167,"threshold_uncertainty_score":0.1832325,"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."}}