Publications

PGS Publication/Study ID (PGP) PGS Developed PGS Evaluated First Author Title Journal Name Publication Date Digital object identifier (doi) PubMed ID (PMID)
PGP000200 1 1 Talmud PJ Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study. Lancet 22/02/2013 10.1016/s0140-6736(12)62127-8 23433573
PGP000003 1 1 Mega JL Genetic risk, coronary heart disease events, and the clinical benefit of statin therapy: an analysis of primary and secondary prevention trials. Lancet 04/03/2015 10.1016/S0140-6736(14)61730-X 25748612
PGP000207 1 1 van der Lee SJ The effect of APOE and other common genetic variants on the onset of Alzheimer's disease and dementia: a community-based cohort study. Lancet Neurol 16/03/2018 10.1016/s1474-4422(18)30053-x 29555425
PGP000235 2 2 Nalls MA Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies. Lancet Neurol 01/12/2019 10.1016/s1474-4422(19)30320-5 31701892
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
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
PGP000525 0 18 Yajnik CS Polygenic scores of diabetes-related traits in subgroups of type 2 diabetes in India: a cohort study. Lancet Reg Health Southeast Asia 02/05/2023 10.1016/j.lansea.2023.100182 37492423
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
PGP000025 1 1 Belsky DW Polygenic risk and the development and course of asthma: an analysis of data from a four-decade longitudinal study. Lancet Respir Med 28/06/2013 10.1016/S2213-2600(13)70101-2 24429243
PGP000049 1 1 Dai J Identification of risk loci and a polygenic risk score for lung cancer: a large-scale prospective cohort study in Chinese populations. Lancet Respir Med 17/07/2019 10.1016/S2213-2600(19)30144-4 31326317
PGP000448 8 8 Berndt SI Distinct germline genetic susceptibility profiles identified for common non-Hodgkin lymphoma subtypes. Leukemia 22/10/2022 10.1038/s41375-022-01711-0 36273105
PGP000234 0 1 Kleinstern G Polygenic risk score and risk of monoclonal B-cell lymphocytosis in caucasians and risk of chronic lymphocytic leukemia (CLL) in African Americans. Leukemia 20/07/2021 10.1038/s41375-021-01344-9 34285341
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
PGP000505 0 1 Liu Z Associations of serum uric acid levels with liver disease-related morbidity and mortality: A prospective cohort study of the UK Biobank. Liver Int 29/03/2023 10.1111/liv.15564 36938749
PGP000192 1 1 Kawai VK Pleiotropy of systemic lupus erythematosus risk alleles and cardiometabolic disorders: A phenome-wide association study and inverse-variance weighted meta-analysis. Lupus 12/05/2021 10.1177/09612033211014952 33977795
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 —
PGP000606 0 1 Szczerbinski L Algorithms for the identification of prevalent diabetes in the All of Us Research Program validated using polygenic scores - a new resource for diabetes precision medicine medRxivPre 05/09/2023 10.1101/2023.09.05.23295061 —
PGP000748 17 17 White SL Global multi-ancestry genetic study elucidates genes and biological pathways associated with thyroid cancer and benign thyroid diseases medRxivPre 16/05/2025 10.1101/2025.05.15.25327513 —
PGP000280 2 2 Kujala UM Polygenic Risk Scores and Physical Activity. Med Sci Sports Exerc 01/07/2020 10.1249/mss.0000000000002290 32049886
PGP000658 0 1 Hu C Genetic Predisposition, Sedentary Behavior, and Incident Coronary Artery Disease: A Prospective Chinese Cohort Study. Med Sci Sports Exerc 30/08/2023 10.1249/mss.0000000000003277 37703277
PGP000437 1 1 Wong CK Melanoma risk prediction based on a polygenic risk score and clinical risk factors. Melanoma Res 24/04/2023 10.1097/cmr.0000000000000896 37096571
PGP000221 1 2 Leal LG A polygenic biomarker to identify patients with severe hypercholesterolemia of polygenic origin. Mol Genet Genomic Med 19/04/2020 10.1002/mgg3.1248 32307928
PGP000080 1 1 Coleman JRI Genome-wide gene-environment analyses of major depressive disorder and reported lifetime traumatic experiences in UK Biobank. Mol Psychiatry 23/01/2020 10.1038/s41380-019-0546-6 31969693
PGP000521 1 1 Merino J Genetic predisposition to macronutrient preference and workplace food choices. Mol Psychiatry 23/05/2023 10.1038/s41380-023-02107-x 37217678
PGP000569 1 1 Lake J Multi-ancestry meta-analysis and fine-mapping in Alzheimer's disease. Mol Psychiatry 18/05/2023 10.1038/s41380-023-02089-w 37198259
PGP000250 1 1 Sia MW Polygenic Risk Scores in a Prospective Parkinson's Disease Cohort. Mov Disord 17/08/2021 10.1002/mds.28761 34402545
PGP000087 1 1 Pihlstrøm L A cumulative genetic risk score predicts progression in Parkinson's disease. Mov Disord 08/02/2016 10.1002/mds.26505 26853697
PGP000479 0 1 Blauwendraat C Polygenic Parkinson's Disease Genetic Risk Score as Risk Modifier of Parkinsonism in Gaucher Disease. Mov Disord 03/03/2023 10.1002/mds.29342 36869417
PGP000765 0 1 Gandhi SE Motor Complications in Parkinson's Disease: Results from 3343 Patients Followed for up to 12 Years. Mov Disord Clin Pract 08/04/2024 10.1002/mdc3.14044 38587023
PGP000754 0 4 Liu Y Integration of polygenic and gut metagenomic risk prediction for common diseases. Nat Aging 25/03/2024 10.1038/s43587-024-00590-7 38528230
PGP000545 2 2 Middha P Polygenic risk score for ulcerative colitis predicts immune checkpoint inhibitor-mediated colitis. Nat Commun 26/03/2024 10.1038/s41467-023-44512-4 38531883
PGP000603 2 2 Loginovic P Applying a genetic risk score model to enhance prediction of future multiple sclerosis diagnosis at first presentation with optic neuritis. Nat Commun 28/02/2024 10.1038/s41467-024-44917-9 38418465
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
PGP000742 6 6 Guo B G Polygenic risk score for type 2 diabetes shows context-dependent effects across populations. Nat Commun 25/06/2025 10.1038/s41467-025-63546-4 41034193
PGP000147 0 11 Thareja G Whole genome sequencing in the Middle Eastern Qatari population identifies genetic associations with 45 clinically relevant traits. Nat Commun 23/02/2021 10.1038/s41467-021-21381-3 33623009
PGP000149 1 1 Huynh-Le MP Polygenic hazard score is associated with prostate cancer in multi-ethnic populations. Nat Commun 23/02/2021 10.1038/s41467-021-21287-0 33623038
PGP000757 1 1 Enzan N Genome-wide analysis of heart failure yields insights into disease heterogeneity and enables prognostic prediction in the Japanese population. Nat Commun 03/11/2025 10.1038/s41467-025-64659-6 41184235
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
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
PGP000739 4 4 Arehart CH Modeling the genomic architecture of adiposity and anthropometrics across the lifespan. Nat Commun 13/08/2025 10.1038/s41467-025-62730-w 40796553
PGP000138 3 3 Fontanillas P Disease risk scores for skin cancers. Nat Commun 08/01/2021 10.1038/s41467-020-20246-5 33420020
PGP000314 1 1 Pujol-Gualdo N Advancing our understanding of genetic risk factors and potential personalized strategies for pelvic organ prolapse. Nat Commun 23/06/2022 10.1038/s41467-022-31188-5 35739095
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
PGP000723 26 26 Xiang R Genome-wide analyses of variance in blood cell phenotypes provide new insights into complex trait biology and prediction. Nat Commun 07/05/2025 10.1038/s41467-025-59525-4 40335489
PGP000186 16 32 Kachuri L Pan-cancer analysis demonstrates that integrating polygenic risk scores with modifiable risk factors improves risk prediction. Nat Commun 27/11/2020 10.1038/s41467-020-19600-4 33247094
PGP000564 1 1 Xin J Integration of pathologic characteristics, genetic risk and lifestyle exposure for colorectal cancer survival assessment. Nat Commun 08/04/2024 10.1038/s41467-024-47204-9 38589358
PGP000320 1 1 He YQ A polygenic risk score for nasopharyngeal carcinoma shows potential for risk stratification and personalized screening. Nat Commun 12/04/2022 10.1038/s41467-022-29570-4 35414057
PGP000510 8 2 Kurniansyah N Evaluating the use of blood pressure polygenic risk scores across race/ethnic background groups. Nat Commun 02/06/2023 10.1038/s41467-023-38990-9 37268629
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
PGP000708 0 1 Ding C Binge-pattern alcohol consumption and genetic risk as determinants of alcohol-related liver disease. Nat Commun 14/12/2023 10.1038/s41467-023-43064-x 38097541
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