Publications

PGS Publication/Study ID (PGP) PGS Developed PGS Evaluated First Author Title Journal Name Publication Date Digital object identifier (doi) PubMed ID (PMID)
PGP000593 6 6 Ojima T Body mass index stratification optimizes polygenic prediction of type 2 diabetes in cross-biobank analyses. Nat Genet 11/06/2024 10.1038/s41588-024-01782-y 38862855
PGP000728 1 1 Prijatelj V Bone health index in the assessment of bone health: The Generation R Study. Bone 07/03/2024 10.1016/j.bone.2024.117070 38460828
PGP000245 0 4 Barnes DR Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores. J Natl Cancer Inst 28/07/2021 10.1093/jnci/djab147 34320204
PGP000109 0 4 Kramer I Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk. Am J Hum Genet 05/10/2020 10.1016/j.ajhg.2020.09.001 33022221
PGP000767 0 2 Beck JJ Breast Cancer Polygenic Risk Score Validation and Effects of Variable Imputation. Cancers (Basel) 20/04/2024 10.3390/cancers16081578 38672660
PGP000018 2 2 Shieh Y Breast cancer risk prediction using a clinical risk model and polygenic risk score. Breast Cancer Res Treat 26/08/2016 10.1007/s10549-016-3953-2 27565998
PGP000372 0 1 Clarke SL Broad clinical manifestations of polygenic risk for coronary artery disease in the Women's Health Initiative. Commun Med (Lond) 25/08/2022 10.1038/s43856-022-00171-y 36034645
PGP000597 0 1 Shi Z Cancer-associated thrombosis by cancer sites and inherited factors in a prospective population-based cohort. Thromb Res 26/06/2023 10.1016/j.thromres.2023.06.023 37419004
PGP000118 302 302 Fritsche LG Cancer PRSweb: An Online Repository with Polygenic Risk Scores for Major Cancer Traits and Their Evaluation in Two Independent Biobanks. Am J Hum Genet 28/09/2020 10.1016/j.ajhg.2020.08.025 32991828
PGP000428 1 1 Nyberg T CanRisk-Prostate: A Comprehensive, Externally Validated Risk Model for the Prediction of Future Prostate Cancer. J Clin Oncol 09/12/2022 10.1200/jco.22.01453 36493335
PGP000402 1 1 Chen Y Cardiometabolic diseases, polygenic risk score, APOE genotype, and risk of incident dementia: A population-based prospective cohort study. Arch Gerontol Geriatr 31/10/2022 10.1016/j.archger.2022.104853 36347157
PGP000536 0 2 Vassy JL Cardiovascular Disease Risk Assessment Using Traditional Risk Factors and Polygenic Risk Scores in the Million Veteran Program. JAMA Cardiol 01/06/2023 10.1001/jamacardio.2023.0857 37133828
PGP000620 3 3 Sun X Case-Case Genome-Wide Analyses Identify Subtype-Informative Variants that Confer Risk for Breast Cancer. Cancer Res 04/06/2024 10.1158/0008-5472.can-23-3854 38832928
PGP000647 3 3 Trinder M Causal Inference for Genetically Determined Levels of High-Density Lipoprotein Cholesterol and Risk of Infectious Disease. Arterioscler Thromb Vasc Biol 07/11/2019 10.1161/atvbaha.119.313381 31694394
PGP000212 2 2 Dongiovanni P Causal relationship of hepatic fat with liver damage and insulin resistance in nonalcoholic fatty liver. J Intern Med 27/12/2017 10.1111/joim.12719 29280273
PGP000488 2 2 Wang A W Characterizing prostate cancer risk through multi-ancestry genome-wide discovery of 187 novel risk variants Nature Genetics 21/08/2023 10.1038/s41588-023-01534-4 37945903
PGP000812 1 1 Chen Y Childhood maltreatment, genetic risk, and subsequent risk of arrhythmias: a prospective cohort study. Eur J Psychotraumatol 24/06/2024 10.1080/20008066.2024.2366055 38912597
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
PGP000264 2 2 Moll M Chronic obstructive pulmonary disease and related phenotypes: polygenic risk scores in population-based and case-control cohorts. Lancet Respir Med 01/07/2020 10.1016/s2213-2600(20)30101-6 32649918
PGP000434 1 1 Khurshid S Clinical and genetic associations of deep learning-derived cardiac magnetic resonance-based left ventricular mass. Nat Commun 21/03/2023 10.1038/s41467-023-37173-w 36944631
PGP000395 1 1 Valenti L Clinical and genetic determinants of the fatty liver-coagulation balance interplay in individuals with metabolic dysfunction. JHEP Rep 25/09/2022 10.1016/j.jhepr.2022.100598 36313186
PGP000125 1 1 Marston NA Clinical Application of a Novel Genetic Risk Score for Ischemic Stroke in Patients with Cardiometabolic Disease. Circulation 13/11/2020 10.1161/circulationaha.120.051927 33185476
PGP000756 3 3 Xu L Clinical Application of Polygenic Risk Score in IgA Nephropathy. Phenomics 21/03/2024 10.1007/s43657-023-00138-6 38884057
PGP000696 1 2 Shi M Clinical consequences of a genetic predisposition toward higher benign prostate-specific antigen levels. EBioMedicine 20/10/2023 10.1016/j.ebiom.2023.104838 37865044
PGP000482 0 1 Hassanin E Clinically relevant combined effect of polygenic background, rare pathogenic germline variants, and family history on colorectal cancer incidence. BMC Med Genomics 05/03/2023 10.1186/s12920-023-01469-z 36872334
PGP000780 1 1 Boumtje V Clinical usefulness of polygenic risk scores in risk prediction models for lung cancer screening and lung nodule management. Transl Oncol 15/04/2026 10.1016/j.tranon.2026.102771 41990546
PGP000127 1 1 Trinder M Clinical Utility of Lipoprotein(a) and LPA Genetic Risk Score in Risk Prediction of Incident Atherosclerotic Cardiovascular Disease. JAMA Cardiol 06/10/2020 10.1001/jamacardio.2020.5398 33021622
PGP000501 26 26 Shim I Clinical utility of polygenic scores for cardiometabolic disease in Arabs. Nature Communications 18/10/2023 10.1038/s41467-023-41985-1 37852978
PGP000624 1 1 Vasiljevic E Cognitive trajectories diverge by genetic risk in a preclinical longitudinal cohort. Alzheimers Dement 01/02/2023 10.1002/alz.12920 36723444
PGP000190 1 1 Hang D Colorectal cancer susceptibility variants and risk of conventional adenomas and serrated polyps: results from three cohort studies. Int J Epidemiol 01/02/2020 10.1093/ije/dyz096 31038671
PGP000259 1 1 Yiangou K Combination of a 15-SNP Polygenic Risk Score and Classical Risk Factors for the Prediction of Breast Cancer Risk in Cypriot Women. Cancers (Basel) 11/09/2021 10.3390/cancers13184568 34572793
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
PGP000173 0 2 Darst BF Combined Effect of a Polygenic Risk Score and Rare Genetic Variants on Prostate Cancer Risk. Eur Urol 01/05/2021 10.1016/j.eururo.2021.04.013 33941403
PGP000350 0 1 Niedermaier T Combined Performance of Fecal Immunochemical Tests and a Genetic Risk Score for Advanced Neoplasia Detection. Cancer Prev Res (Phila) 01/08/2022 10.1158/1940-6207.capr-21-0552 35679356
PGP000622 0 1 Åberg F Combined use of the ELF test and CLivD score improves prediction of liver-related outcomes in the general population. Liver Int 23/07/2023 10.1111/liv.15681 37485795
PGP000095 2 2 Meisner A Combined Utility of 25 Disease and Risk Factor Polygenic Risk Scores for Stratifying Risk of All-Cause Mortality. Am J Hum Genet 26/07/2020 10.1016/j.ajhg.2020.07.002 32758451
PGP000492 1 3 Thomas M Combining Asian and European genome-wide association studies of colorectal cancer improves risk prediction across racial and ethnic populations. Nat Commun 02/10/2023 10.1038/s41467-023-41819-0 37783704
PGP000239 1 1 O'Sullivan JW Combining Clinical and Polygenic Risk Improves Stroke Prediction Among Individuals With Atrial Fibrillation. Circ Genom Precis Med 15/06/2021 10.1161/circgen.120.003168 34029116
PGP000433 0 5 de La Harpe R Combining European and U.S. risk prediction models with polygenic risk scores to refine cardiovascular prevention: the CoLaus|PsyCoLaus Study. Eur J Prev Cardiol 18/01/2023 10.1093/eurjpc/zwad012 36652418
PGP000219 0 1 Huynh-Le MP Common genetic and clinical risk factors: association with fatal prostate cancer in the Cohort of Swedish Men. Prostate Cancer Prostatic Dis 15/03/2021 10.1038/s41391-021-00341-4 33723363
PGP000146 1 1 Harper AR Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivity. Nat Genet 25/01/2021 10.1038/s41588-020-00764-0 33495597
PGP000306 0 1 Thompson PL Common genetic variants do not predict recurrent events in coronary heart disease patients. BMC Cardiovasc Disord 09/03/2022 10.1186/s12872-022-02520-0 35264114
PGP000413 14 14 Namba S Common germline risk variants impact somatic alterations and clinical features across cancers. Cancer Res 26/10/2022 10.1158/0008-5472.can-22-1492 36286845
PGP000167 0 3 Maguire S Common Susceptibility Loci for Male Breast Cancer. J Natl Cancer Inst 01/04/2021 10.1093/jnci/djaa101 32785646
PGP000691 1 1 Lee DSM Common-variant and rare-variant genetic architecture of heart failure across the allele-frequency spectrum. Nat Genet 07/04/2025 10.1038/s41588-025-02140-2 40195560
PGP000231 1 1 de Rojas I Common variants in Alzheimer's disease and risk stratification by polygenic risk scores. Nat Commun 07/06/2021 10.1038/s41467-021-22491-8 34099642
PGP000202 1 2 Bauer A Comparison of genetic risk prediction models to improve prediction of coronary heart disease in two large cohorts of the MONICA/KORA study. Genet Epidemiol 03/06/2021 10.1002/gepi.22389 34082474
PGP000679 130 130 Gunn S Comparison of Methods for Building Polygenic Scores for Diverse Populations. HGG Adv 25/09/2024 10.1016/j.xhgg.2024.100355 39323095
PGP000218 0 1 He Y Comparisons of Polyexposure, Polygenic, and Clinical Risk Scores in Risk Prediction of Type 2 Diabetes. Diabetes Care 09/02/2021 10.2337/dc20-2049 33563654
PGP000727 0 1 Mars N Comprehensive Inherited Risk Estimation for Risk-Based Breast Cancer Screening in Women. J Clin Oncol 29/02/2024 10.1200/jco.23.00295 38422475
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