Publications

PGS Publication/Study ID (PGP) PGS Developed PGS Evaluated First Author Title Journal Name Publication Date Digital object identifier (doi) PubMed ID (PMID)
PGP000602 3 3 Smith JL Multi-Ancestry Polygenic Risk Score for Coronary Heart Disease Based on an Ancestrally Diverse Genome-Wide Association Study and Population-Specific Optimization. Circ Genom Precis Med 21/02/2024 10.1161/circgen.123.004272 38380516
PGP000773 25 25 Huerta-Chagoya A Multi-ancestry polygenic risk scores for the prediction of type 2 diabetes and complications in diverse ancestries medRxivPre 23/07/2025 10.1101/2025.07.21.25331778 40778152
PGP000106 1 1 Law MH Multiplex melanoma families are enriched for polygenic risk. Hum Mol Genet 01/10/2020 10.1093/hmg/ddaa156 32716505
PGP000789 1 1 Barry A Multi-population genome-wide association study implicates immune and non-immune factors in pediatric steroid-sensitive nephrotic syndrome. Nat Commun 29/04/2023 10.1038/s41467-023-37985-w 37120605
PGP000747 4 4 Kany S Multitrait analyses identify genetic variants associated with aortic valve function and aortic stenosis risk. Nat Genet 19/12/2025 10.1038/s41588-025-02397-7 41419685
PGP000066 1 1 Craig JE Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression. Nat Genet 20/01/2020 10.1038/s41588-019-0556-y 31959993
PGP000785 1 1 Trimarchi MP Multi-trait Analysis of GWAS Expands Eosinophilic Esophagitis Genetic Susceptibility and Polygenic Risk Scores. J Allergy Clin Immunol 20/03/2026 10.1016/j.jaci.2026.03.008 41865802
PGP000490 1 1 Hatoum AS Multivariate genome-wide association meta-analysis of over 1 million subjects identifies loci underlying multiple substance use disorders. Nat Ment Health 22/03/2023 10.1038/s44220-023-00034-y 37250466
PGP000664 1 1 Park S Multivariate genomic analysis of 5 million people elucidates the genetic architecture of shared components of the metabolic syndrome. Nat Genet 30/09/2024 10.1038/s41588-024-01933-1 39349817
PGP000086 1 1 Shrine N New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries. Nat Genet 25/02/2019 10.1038/s41588-018-0321-7 30804560
PGP000309 1 1 Bellenguez C New insights into the genetic etiology of Alzheimer's disease and related dementias. Nat Genet 04/04/2022 10.1038/s41588-022-01024-z 35379992
PGP000215 1 2 Bianco C Non-invasive stratification of hepatocellular carcinoma risk in non-alcoholic fatty liver using polygenic risk scores. J Hepatol 25/11/2020 10.1016/j.jhep.2020.11.024 33248170
PGP000243 1 1 Borisevich D Non-linear interaction between physical activity and polygenic risk score of body mass index in Danish and Russian populations. PLoS One 18/10/2021 10.1371/journal.pone.0258748 34662357
PGP000589 0 1 Mur P Non-Lynch Familial and Early-Onset Colorectal Cancer Explained by Accumulation of Low-Risk Genetic Variants. Cancers (Basel) 31/07/2021 10.3390/cancers13153857 34359758
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
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
PGP000770 7 2 Hrytsenko Y Obstructive sleep apnea mediates genetic risk of Diabetes Mellitus in Hispanic and Latino communities. Commun Med (Lond) 25/09/2025 10.1038/s43856-025-01107-y 40999017
PGP000783 1 1 Chen H Optimizing colorectal cancer screening through polygenic risk score-based risk stratification: evidence from a population-based cohort and screening trial. Genome Med 19/03/2026 10.1186/s13073-026-01623-z 41851747
PGP000444 3 3 Petrican R Overlapping brain correlates of superior cognition among children at genetic risk for Alzheimer's disease and/or major depressive disorder. Sci Rep 18/01/2023 10.1038/s41598-023-28057-6 36653486
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
PGP000059 1 1 Ibanez L Parkinson disease polygenic risk score is associated with Parkinson disease status and age at onset but not with alpha-synuclein cerebrospinal fluid levels. BMC Neurol 15/11/2017 10.1186/s12883-017-0978-z 29141588
PGP000065 4 4 Zheutlin AB Penetrance and Pleiotropy of Polygenic Risk Scores for Schizophrenia in 106,160 Patients Across Four Health Care Systems. Am J Psychiatry 16/08/2019 10.1176/appi.ajp.2019.18091085 31416338
PGP000198 0 2 Borde J Performance of breast cancer polygenic risk scores in 760 female CHEK2 germline mutation carriers. J Natl Cancer Inst 29/12/2020 10.1093/jnci/djaa203 33372680
PGP000191 1 1 He CY Performance of common genetic variants in risk prediction for colorectal cancer in Chinese: A two-stage and multicenter study. Genomics 02/02/2021 10.1016/j.ygeno.2021.01.025 33545268
PGP000771 5 5 Tanha HM Performance of different polygenic risk scores for breast cancer risk prediction: in-depth evaluations across large UK and Australian cohorts. Eur J Hum Genet 13/01/2026 10.1038/s41431-025-02003-8 41526671
PGP000010 1 1 Läll K Personalized risk prediction for type 2 diabetes: the potential of genetic risk scores. Genet Med 11/08/2016 10.1038/gim.2016.103 27513194
PGP000176 1 1 Sordillo JE Pharmacogenetic Polygenic Risk Score for Bronchodilator Response in Children and Adolescents with Asthma: Proof-of-Concept. J Pers Med 20/04/2021 10.3390/jpm11040319 33923870
PGP000461 10 10 Dahl A Phenotype integration improves power and preserves specificity in biobank-based genetic studies of MDD bioRxivPre 15/08/2022 10.1101/2022.08.15.503980 —
PGP000509 1 1 Barnado A Phenotype Risk Score but Not Genetic Risk Score Aids in Identifying Individuals With Systemic Lupus Erythematosus in the Electronic Health Record. Arthritis Rheumatol 12/07/2023 10.1002/art.42544 37096581
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
PGP000299 1 1 Zekavat SM Photoreceptor Layer Thinning Is an Early Biomarker for Age-Related Macular Degeneration: Epidemiologic and Genetic Evidence from UK Biobank OCT Data. Ophthalmology 08/02/2022 10.1016/j.ophtha.2022.02.001 35149155
PGP000486 1 1 Zheng Z Physical Frailty, Genetic Predisposition, and Incident Parkinson Disease. JAMA Neurol 01/05/2023 10.1001/jamaneurol.2023.0183 36912851
PGP000720 0 2 Masip G Plant-based dietary patterns and genetic susceptibility to obesity in the CARTaGENE cohort. Obesity (Silver Spring) 06/12/2023 10.1002/oby.23944 38057558
PGP000769 1 1 Zhu J Plasma Proteomic Biomarkers Underlying Polygenic Risk of Idiopathic Pulmonary Fibrosis. Am J Respir Crit Care Med 28/10/2025 10.1164/rccm.202505-1202rl 41151026
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
PGP000650 0 1 Sjögren M Polygenetic risk for coronary artery disease increases hospitalization burden and mortality. Int J Cardiol Heart Vasc 16/07/2019 10.1016/j.ijcha.2019.100391 31360760
PGP000161 1 1 Cho SK Polygenic analysis of the effect of common and low-frequency genetic variants on serum uric acid levels in Korean individuals. Sci Rep 08/06/2020 10.1038/s41598-020-66064-z 32514006
PGP000100 5 5 Mars N Polygenic and clinical risk scores and their impact on age at onset and prediction of cardiometabolic diseases and common cancers. Nat Med 07/04/2020 10.1038/s41591-020-0800-0 32273609
PGP000396 0 1 Koraishy FM Polygenic association of glomerular filtration rate decline in world trade center responders. BMC Nephrol 28/10/2022 10.1186/s12882-022-02967-5 36307804
PGP000171 0 2 Fahed AC Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions. Nat Commun 20/08/2020 10.1038/s41467-020-17374-3 32820175
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
PGP000107 1 1 Trinder M Polygenic Contribution to Low-Density Lipoprotein Cholesterol Levels and Cardiovascular Risk in Monogenic Familial Hypercholesterolemia. Circ Genom Precis Med 13/08/2020 10.1161/circgen.120.002919 33079599
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
PGP000058 0 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
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
PGP000607 1 1 Boumtje V Polygenic inheritance and its interplay with smoking history in predicting lung cancer diagnosis: a French-Canadian case-control cohort. EBioMedicine 05/07/2024 10.1016/j.ebiom.2024.105234 38970920
PGP000399 1 1 Fang Y Polygenic Liability to Depression Is Associated With Multiple Medical Conditions in the Electronic Health Record: Phenome-wide Association Study of 46,782 Individuals. Biol Psychiatry 11/06/2022 10.1016/j.biopsych.2022.06.004 35965108
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
PGP000724 7 7 Smit RAJ Polygenic prediction of body mass index and obesity through the life course and across ancestries. Nat Med 21/07/2025 10.1038/s41591-025-03827-z 40691366
PGP000732 1 1 Flores AM Polygenic Prediction of Peripheral Artery Disease and Major Adverse Limb Events. JAMA Cardiol 21/05/2025 10.1001/jamacardio.2025.1182 40397457
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