Publications

PGS Publication/Study ID (PGP) PGS Developed PGS Evaluated First Author Title Journal Name Publication Date Digital object identifier (doi) PubMed ID (PMID)
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
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
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
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
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
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
PGP000486 1 1 Zheng Z Physical Frailty, Genetic Predisposition, and Incident Parkinson Disease. JAMA Neurol 01/05/2023 10.1001/jamaneurol.2023.0183 36912851
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
PGP000106 1 1 Law MH Multiplex melanoma families are enriched for polygenic risk. Hum Mol Genet 01/10/2020 10.1093/hmg/ddaa156 32716505
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
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
PGP000703 20 20 Tsuo K Multi-ancestry meta-analysis of asthma identifies novel associations and highlights the value of increased power and diversity. Cell Genom 08/11/2022 10.1016/j.xgen.2022.100212 36778051
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
PGP000236 2 2 Ntalla I Multi-ancestry GWAS of the electrocardiographic PR interval identifies 202 loci underlying cardiac conduction. Nat Commun 21/05/2020 10.1038/s41467-020-15706-x 32439900
PGP000640 1 1 Purdue MP Multi-ancestry genome-wide association study of kidney cancer identifies 63 susceptibility regions. Nat Genet 26/04/2024 10.1038/s41588-024-01725-7 38671320
PGP000500 4 4 Shrine N Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk. Nat Genet 13/03/2023 10.1038/s41588-023-01314-0 36914875
PGP000357 1 1 Ishigaki K Multi-ancestry genome-wide association analyses identify novel genetic mechanisms in rheumatoid arthritis. Nat Genet 04/11/2022 10.1038/s41588-022-01213-w 36333501
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
PGP000335 1 1 Namjou B Multiancestral polygenic risk score for pediatric asthma. J Allergy Clin Immunol 18/05/2022 10.1016/j.jaci.2022.03.035 35595084
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
PGP000304 1 1 Nauffal V Monogenic and Polygenic Contributions to QTc Prolongation in the Population. Circulation 07/04/2022 10.1161/circulationaha.121.057261 35389749
PGP000705 1 1 Zhu K Modifiable Lifestyle Factors, Genetic Risk, and Incident Peripheral Artery Disease Among Individuals With Type 2 Diabetes: A Prospective Study. Diabetes Care 01/03/2024 10.2337/dc23-1503 38181303
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