Publications

PGS Publication/Study ID (PGP) PGS Developed PGS Evaluated First Author Title Journal Name Publication Date Digital object identifier (doi) PubMed ID (PMID)
PGP000737 0 5 Qafoud F Genetic Susceptibility to Arrhythmia Phenotypes in a Middle Eastern Cohort of 14,259 Whole-Genome Sequenced Individuals. J Clin Med 15/02/2024 10.3390/jcm13041102 38398418
PGP000225 1 1 Qassim A An Intraocular Pressure Polygenic Risk Score Stratifies Multiple Primary Open-Angle Glaucoma Parameters Including Treatment Intensity. Ophthalmology 07/01/2020 10.1016/j.ophtha.2019.12.025 32081492
PGP000387 1 2 Qin N Association of the interaction between mosaic chromosomal alterations and polygenic risk score with the risk of lung cancer: an array-based case-control association and prospective cohort study. Lancet Oncol 17/10/2022 10.1016/s1470-2045(22)00600-3 36265503
PGP000062 1 1 Qi Q Genetics of Type 2 Diabetes in U.S. Hispanic/Latino Individuals: Results From the Hispanic Community Health Study/Study of Latinos (HCHS/SOL). Diabetes 02/03/2017 10.2337/db16-1150 28254843
PGP000614 0 1 Qu HQ Combined application of genetic and polygenic risk scores for type 1 diabetes risk prediction. Diabetes Obes Metab 03/06/2021 10.1111/dom.14419 33950547
PGP000520 55 50 Raben TG Biobank-scale methods and projections for sparse polygenic prediction from machine learning. Sci Rep 19/07/2023 10.1038/s41598-023-37580-5 37468507
PGP000755 1 1 Ramírez-Luzuriaga MJ Novel signals and polygenic score for height are associated with pubertal growth traits in Southwestern American Indians. Hum Mol Genet 01/05/2024 10.1093/hmg/ddae030 38483351
PGP000733 1 1 Rand SA Genome-wide association study and polygenic risk prediction of hypothyroidism. Nat Genet 14/11/2025 10.1038/s41588-025-02410-z 41238958
PGP000613 0 1 Rashkin SR Generalization of a genetic risk score for time to first albuminuria in children with sickle cell anaemia: SCCRIP cohort study results. Br J Haematol 16/06/2021 10.1111/bjh.17647 34137022
PGP000511 1 1 Rasooly D Genome-wide association analysis and Mendelian randomization proteomics identify drug targets for heart failure. Nat Commun 10/07/2023 10.1038/s41467-023-39253-3 37429843
PGP000695 0 1 Reeskamp LF Polygenic Background Modifies Risk of Coronary Artery Disease Among Individuals With Heterozygous Familial Hypercholesterolemia. JACC Adv 28/10/2023 10.1016/j.jacadv.2023.100662 38938725
PGP000099 1 1 Reid S High genetic risk score is associated with early disease onset, damage accrual and decreased survival in systemic lupus erythematosus. Ann Rheum Dis 11/12/2019 10.1136/annrheumdis-2019-216227 31826855
PGP000677 0 4 Renier TJ Elucidating pathways to pediatric obesity: a study evaluating obesity polygenic risk scores related to appetitive traits in children. Int J Obes (Lond) 22/09/2023 10.1038/s41366-023-01385-3 37736781
PGP000228 1 1 Revez JA Genome-wide association study identifies 143 loci associated with 25 hydroxyvitamin D concentration. Nat Commun 02/04/2020 10.1038/s41467-020-15421-7 32242144
PGP000208 0 1 Riaz M Effect of APOE and a polygenic risk score on incident dementia and cognitive decline in a healthy older population. Aging Cell 26/05/2021 10.1111/acel.13384 34041846
PGP000132 2 2 Richardson TG Use of genetic variation to separate the effects of early and later life adiposity on disease risk: mendelian randomisation study. BMJ 06/05/2020 10.1136/bmj.m1203 32376654
PGP000681 0 1 Rifkin AS Risk assessment of venous thromboembolism in inflammatory bowel disease by inherited risk in a population-based incident cohort. World J Gastroenterol 01/10/2023 10.3748/wjg.v29.i39.5494 37900992
PGP000205 0 1 Rimbert A Phenotypic Differences Between Polygenic and Monogenic Hypobetalipoproteinemia. Arterioscler Thromb Vasc Biol 19/11/2020 10.1161/atvbaha.120.315491 33207932
PGP000656 1 22 Ritchie SC Integrated clinical risk prediction of type 2 diabetes with a multifactorial polygenic risk score medRxivPre 22/08/2024 10.1101/2024.08.22.24312440 —
PGP000137 3 4 Ritchie SC Integrative analysis of the plasma proteome and polygenic risk of cardiometabolic diseases Nat Metab 08/11/2021 10.1038/s42255-021-00478-5 34750571
PGP000145 1 1 Roberts GHL Family Clustering of Autoimmune Vitiligo Results Principally from Polygenic Inheritance of Common Risk Alleles. Am J Hum Genet 18/07/2019 10.1016/j.ajhg.2019.06.013 31327509
PGP000416 1 2 Robinson JR Quantifying the phenome-wide disease burden of obesity using electronic health records and genomics. Obesity (Silver Spring) 13/11/2022 10.1002/oby.23561 36372681
PGP000301 1 1 Roselli C Genome-wide association study reveals novel genetic loci: a new polygenic risk score for mitral valve prolapse. Eur Heart J 04/03/2022 10.1093/eurheartj/ehac049 35245370
PGP000712 1 1 Roselli C Meta-analysis of genome-wide associations and polygenic risk prediction for atrial fibrillation in more than 180,000 cases. Nat Genet 06/03/2025 10.1038/s41588-024-02072-3 40050429
PGP000616 0 1 Rosner B Simplified Breast Risk Tool Integrating Questionnaire Risk Factors, Mammographic Density, and Polygenic Risk Score: Development and Validation. Cancer Epidemiol Biomarkers Prev 04/12/2020 10.1158/1055-9965.epi-20-0900 33277321
PGP000513 2 2 Roychowdhury T Genome-wide association meta-analysis identifies risk loci for abdominal aortic aneurysm and highlights PCSK9 as a therapeutic target. Nat Genet 16/10/2023 10.1038/s41588-023-01510-y 37845353
PGP000371 3 3 Ruan X Application of European-specific polygenic risk scores for predicting prostate cancer risk in different ancestry populations. Prostate 22/08/2022 10.1002/pros.24431 35996327
PGP000577 1 1 Ruan X The Combined Effect of Polygenic Risk Score and Prostate Health Index in Chinese Men Undergoing Prostate Biopsy. J Clin Med 08/02/2023 10.3390/jcm12041343 36835879
PGP000026 1 1 Rutten-Jacobs LC Genetic risk, incident stroke, and the benefits of adhering to a healthy lifestyle: cohort study of 306 473 UK Biobank participants. BMJ 24/10/2018 10.1136/bmj.k4168 30355576
PGP000669 0 1 Saadatagah S Polygenic Risk, Rare Variants, and Family History: Independent and Additive Effects on Coronary Heart Disease. JACC Adv 26/08/2023 10.1016/j.jacadv.2023.100567 38939477
PGP000292 0 3 Saad M Genetic predisposition to cancer across people of different ancestries in Qatar: a population-based, cohort study. Lancet Oncol 09/02/2022 10.1016/s1470-2045(21)00752-x 35150601
PGP000386 0 4 Saad M Validation of Polygenic Risk Scores for Coronary Heart Disease in a Middle Eastern Cohort Using Whole Genome Sequencing. Circ Genom Precis Med 12/10/2022 10.1161/circgen.122.003712 36252120
PGP000721 0 6 Sadler MC Leveraging large-scale biobank EHRs to enhance pharmacogenetics of cardiometabolic disease medications. Nat Commun 25/03/2025 10.1038/s41467-025-58152-3 40133288
PGP000688 0 1 Saks DG Genetic risk of glaucoma is associated with vascular and retinal nerve fibre wedge defects. Acta Ophthalmol 06/10/2023 10.1111/aos.15775 37800621
PGP000353 0 1 Sapkota Y Contribution of Genome-Wide Polygenic Score to Risk of Coronary Artery Disease in Childhood Cancer Survivors. JACC CardioOncol 21/06/2022 10.1016/j.jaccao.2022.04.003 35818558
PGP000363 1 2 Sapkota Y Genetic risk score enhances the risk prediction of severe obesity in adult survivors of childhood cancer. Nat Med 25/07/2022 10.1038/s41591-022-01902-3 35879615
PGP000750 3 3 Sarnowski C Association of genetic scores related to insulin resistance with neurological outcomes in ancestrally diverse cohorts from the Trans-Omics for Precision Medicine (TOPMed) program. Commun Biol 24/09/2025 10.1038/s42003-025-08674-9 40993182
PGP000473 1 1 Sato JR Polygenic risk score for attention-deficit/hyperactivity disorder and brain functional networks segregation in a community-based sample. Genes Brain Behav 21/02/2023 10.1111/gbb.12838 36811275
PGP000410 20 20 Saunders GRB Genetic diversity fuels gene discovery for tobacco and alcohol use. Nature 07/12/2022 10.1038/s41586-022-05477-4 36477530
PGP000629 1 1 Saw J Chromosome 1q21.2 and additional loci influence risk of spontaneous coronary artery dissection and myocardial infarction. Nat Commun 04/09/2020 10.1038/s41467-020-17558-x 32887874
PGP000487 1 1 Scammell BH Multi-ancestry genome-wide analysis identifies shared genetic effects and common genetic variants for self-reported sleep duration. Hum Mol Genet 29/06/2023 10.1093/hmg/ddad101 37384397
PGP000452 0 1 Schaffer KR A Polygenic Risk Score for Prostate Cancer Risk Prediction. JAMA Intern Med 06/03/2023 10.1001/jamainternmed.2022.6795 36877498
PGP000308 0 1 Schaid DJ Polygenic risk for prostate cancer: Decreasing relative risk with age but little impact on absolute risk. Am J Hum Genet 23/03/2022 10.1016/j.ajhg.2022.03.008 35353984
PGP000040 1 1 Schmit SL Novel Common Genetic Susceptibility Loci for Colorectal Cancer. J Natl Cancer Inst 01/02/2019 10.1093/jnci/djy099 29917119
PGP000312 2 2 Schnurr TM Interactions of physical activity, muscular fitness, adiposity, and genetic risk for NAFLD. Hepatol Commun 15/03/2022 10.1002/hep4.1932 35293152
PGP000378 1 2 Schoepf IC Coronary Artery Disease-Associated and Longevity-Associated Polygenic Risk Scores for Prediction of Coronary Artery Disease Events in Persons Living With Human Immunodeficiency Virus: The Swiss HIV Cohort Study. Clin Infect Dis 01/11/2021 10.1093/cid/ciab521 34091660
PGP000019 1 1 Schumacher FR Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci. Nat Genet 11/06/2018 10.1038/s41588-018-0142-8 29892016
PGP000645 1 1 Schwantes-An TH A polygenic risk score for alcohol-associated cirrhosis among heavy drinkers with European ancestry. Hepatol Commun 10/05/2024 10.1097/hc9.0000000000000431 38727677
PGP000336 2 2 Sedaghati-Khayat B Risk assessment for hip and knee osteoarthritis using polygenic risk scores. Arthritis Rheumatol 29/05/2022 10.1002/art.42246 35644035
PGP000047 1 1 Seibert TM Polygenic hazard score to guide screening for aggressive prostate cancer: development and validation in large scale cohorts. BMJ 10/01/2018 10.1136/bmj.j5757 29321194
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