Publications

PGS Publication/Study ID (PGP) PGS Developed PGS Evaluated First Author Title Journal Name Publication Date Digital object identifier (doi) PubMed ID (PMID)
PGP000326 1 1 Maj C Dissecting the Polygenic Basis of Primary Hypertension: Identification of Key Pathway-Specific Components. Front Cardiovasc Med 16/02/2022 10.3389/fcvm.2022.814502 35252394
PGP000138 3 3 Fontanillas P Disease risk scores for skin cancers. Nat Commun 08/01/2021 10.1038/s41467-020-20246-5 33420020
PGP000170 1 0 Huyghe JR Discovery of common and rare genetic risk variants for colorectal cancer. Nat Genet 03/12/2018 10.1038/s41588-018-0286-6 30510241
PGP000409 2 2 Aragam KG Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants. Nat Genet 06/12/2022 10.1038/s41588-022-01233-6 36474045
PGP000722 0 1 Yuan S Digestive System Diseases, Genetic Risk, and Incident Dementia: A Prospective Cohort Study. Am J Prev Med 31/10/2023 10.1016/j.amepre.2023.10.017 37918457
PGP000184 1 1 Clark H Differential associations of allergic disease genetic variants with developmental profiles of eczema, wheeze and rhinitis. Clin Exp Allergy 15/10/2019 10.1111/cea.13485 31441980
PGP000719 1 1 Dai L Diabetes status, genetic susceptibility, and incident arrhythmias: A prospective cohort study of 457,151 participants. Diabetes Metab Syndr 01/03/2024 10.1016/j.dsx.2024.102971 38458077
PGP000121 4 4 Tam CHT Development of genome-wide polygenic risk scores for lipid traits and clinical applications for dyslipidemia, subclinical atherosclerosis, and diabetes cardiovascular complications among East Asians. Genome Med 19/02/2021 10.1186/s13073-021-00831-z 33608049
PGP000120 1 1 Forgetta V Development of a polygenic risk score to improve screening for fracture risk: A genetic risk prediction study. PLoS Med 02/07/2020 10.1371/journal.pmed.1003152 32614825
PGP000381 0 6 Hao L Development of a clinical polygenic risk score assay and reporting workflow. Nat Med 18/04/2022 10.1038/s41591-022-01767-6 35437332
PGP000478 2 3 Ohbe H Development and validation of genome-wide polygenic risk scores for predicting breast cancer incidence in Japanese females: a population-based case-cohort study. Breast Cancer Res Treat 20/12/2022 10.1007/s10549-022-06843-6 36538246
PGP000331 1 1 Ge T Development and validation of a trans-ancestry polygenic risk score for type 2 diabetes in diverse populations. Genome Med 29/06/2022 10.1186/s13073-022-01074-2 35765100
PGP000508 0 1 Dite GS Development and validation of a simple prostate cancer risk prediction model based on age, family history, and polygenic risk. Prostate 16/04/2023 10.1002/pros.24537 37062910
PGP000285 1 1 Lu X Development and Validation of a Polygenic Risk Score for Stroke in the Chinese Population. Neurology 24/05/2021 10.1212/wnl.0000000000012263 34031205
PGP000590 1 1 Shieh Y Development and testing of a polygenic risk score for breast cancer aggressiveness. NPJ Precis Oncol 15/05/2023 10.1038/s41698-023-00382-z 37188791
PGP000014 1 2 Sharp SA Development and Standardization of an Improved Type 1 Diabetes Genetic Risk Score for Use in Newborn Screening and Incident Diagnosis. Diabetes Care 01/02/2019 10.2337/dc18-1785 30655379
PGP000661 1 1 Tsepilov YA Development and Replication of a Genome-Wide Polygenic Risk Score for Chronic Back Pain. J Pers Med 10/06/2023 10.3390/jpm13060977 37373966
PGP000344 3 3 Bafligil C Development and evaluation of polygenic risk scores for prediction of endometrial cancer risk in European women. Genet Med 15/06/2022 10.1016/j.gim.2022.05.014 35704044
PGP000518 2 2 Wei X Development and evaluation of a polygenic risk score for lung cancer in never-smoking women: A large-scale prospective Chinese cohort study. Int J Cancer 17/10/2023 10.1002/ijc.34765 37846649
PGP000643 1 1 Tian J Developing an optimal stratification model for colorectal cancer screening and reducing racial disparities in multi-center population-based studies. Genome Med 13/06/2024 10.1186/s13073-024-01355-y 38872215
PGP000354 3 3 Ping J Developing and validating polygenic risk scores for colorectal cancer risk prediction in East Asians. Int J Cancer 29/06/2022 10.1002/ijc.34194 35765848
PGP000071 1 1 Jeon J Determining Risk of Colorectal Cancer and Starting Age of Screening Based on Lifestyle, Environmental, and Genetic Factors. Gastroenterology 17/02/2018 10.1053/j.gastro.2018.02.021 29458155
PGP000174 1 1 Guffanti G Depression genetic risk score is associated with anhedonia-related markers across units of analysis. Transl Psychiatry 19/09/2019 10.1038/s41398-019-0566-7 31537779
PGP000670 1 1 Sekimitsu S Deep Ocular Phenotyping Across Primary Open-Angle Glaucoma Genetic Burden. JAMA Ophthalmol 01/09/2023 10.1001/jamaophthalmol.2023.3645 37589995
PGP000296 1 1 Pirruccello JP Deep learning enables genetic analysis of the human thoracic aorta. Nat Genet 26/11/2021 10.1038/s41588-021-00962-4 34837083
PGP000491 1 0 Fernandez-Rozadilla C Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries. Nat Genet 20/12/2022 10.1038/s41588-022-01222-9 36539618
PGP000463 2 2 Kleeman SO Cystatin C is glucocorticoid responsive, directs recruitment of Trem2+ macrophages, and predicts failure of cancer immunotherapy. Cell Genom 23/06/2023 10.1016/j.xgen.2023.100347 37601967
PGP000142 1 1 Archambault AN Cumulative Burden of Colorectal Cancer-Associated Genetic Variants Is More Strongly Associated With Early-Onset vs Late-Onset Cancer. Gastroenterology 19/12/2019 10.1053/j.gastro.2019.12.012 31866242
PGP000761 1 1 Yuan S Cross-population GWAS and proteomics improve risk prediction and reveal mechanisms in atrial fibrillation. Nat Commun 11/07/2025 10.1038/s41467-025-61720-2 40645996
PGP000050 16 16 Graff RE Cross-cancer evaluation of polygenic risk scores for 16 cancer types in two large cohorts. Nat Commun 12/02/2021 10.1038/s41467-021-21288-z 33579919
PGP000464 132 132 Liu N Cross-ancestry genome-wide association meta-analyses of hippocampal and subfield volumes. Nat Genet 19/06/2023 10.1038/s41588-023-01425-8 37337106
PGP000392 1 1 Miyazawa K Cross-ancestry genome-wide analysis of atrial fibrillation unveils disease biology and enables cardioembolic risk prediction. Nat Genet 19/01/2023 10.1038/s41588-022-01284-9 36653681
PGP000044 1 1 Hajek C Coronary Heart Disease Genetic Risk Score Predicts Cardiovascular Disease Risk in Men, Not Women. Circ Genom Precis Med 01/10/2018 10.1161/CIRCGEN.118.002324 30354305
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
PGP000342 1 1 Pezzilli S Contribution of rare variants in monogenic diabetes-genes to early-onset type 2 diabetes. Diabetes Metab 26/04/2022 10.1016/j.diabet.2022.101353 35487478
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
PGP000194 1 1 Barnes CLK Contribution of common risk variants to multiple sclerosis in Orkney and Shetland. Eur J Hum Genet 04/06/2021 10.1038/s41431-021-00914-w 34088990
PGP000369 0 1 Jaworek T Contribution of Common Genetic Variants to Risk of Early Onset Ischemic Stroke. Neurology 31/08/2022 10.1212/wnl.0000000000201006 36240095
PGP000599 0 9 Guarischi-Sousa R Contemporary Polygenic Scores of Low-Density Lipoprotein Cholesterol and Coronary Artery Disease Predict Coronary Atherosclerosis in Adolescents and Young Adults. Circ Genom Precis Med 06/07/2023 10.1161/circgen.122.004047 37409455
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
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
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
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
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
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
PGP000167 0 3 Maguire S Common Susceptibility Loci for Male Breast Cancer. J Natl Cancer Inst 01/04/2021 10.1093/jnci/djaa101 32785646
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
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
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
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
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