Polygenic Scores Catalog
English
PGS
数据描述
The Polygenic Score (PGS) Catalog is an open database maintained by EMBL-EBI that provides a repository for polygenic scores (PGS), including metadata necessary for their application and evaluation. It contains 5,011 PGS entries associated with 656 traits, such as breast cancer and BMI, supported by relevant publications and tools like pgsc_calc for score calculation. The Catalog offers comprehensive details on the derivation of each PGS, the genetic variants involved, allele dosages, effect sizes from genome-wide association studies (GWAS), and performance metrics. Users can access metadata and scoring files through bulk downloads, command-line utilities, or a REST API. The dataset aims to facilitate research by standardizing PGS annotation and supporting the development and application of polygenic risk scores for predicting genetic predisposition to traits or diseases.
www.pgscatalog.org
IP: 142.250.196.211
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Nature Genetics
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Nature
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Nature Genetics
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Nature Genetics
2024
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2025
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•2026/6/9
•00 p.1-12
Many multi-population polygenic risk score (PRS) methods have been proposed to improve prediction in underrepresented populations; however, no single method performs best across all scenarios. Although integrating PRSs across multiple methods and populations may improve prediction, this approach is ...
GeneticsPopulation genetics
10.1038/S41588-026-02637-4
ISSN:1061-4036
Uncovering the multivariate genetic architecture of frailty with genomic structural equation modeling
Isabelle F. Foote•Jonny P. Flint•Anna E. Fürtjes•Jeremy M. Lawrence•Donncha S. Mullin等 16 人
Nature Genetics
2025
•2025/8/4
•00 p.1-12
Frailty is a multifaceted clinical state associated with accelerated aging and adverse health outcomes. Informed etiological models of frailty hold promise for producing widespread health improvements across the aging population. Frailty is currently measured using aggregate scores, which obscure et...
EpidemiologyGenetics researchGenome-wide association studiesOutcomes researchPopulation genetics
10.1038/S41588-025-02269-0
ISSN:1061-4036
Prostate cancer genetic risk and associated aggressive disease in men of African ancestry
Pamela X. Y. Soh•Naledi Mmekwa•Desiree C. Petersen•Kazzem Gheybi•Smit van Zyl等 12 人
Nature Communications
2023
•2023/12/5
•Vol.14 No.1 p.1-14
African ancestry is a significant risk factor for prostate cancer and advanced disease. Yet, genetic studies have largely been conducted outside the context of Sub-Saharan Africa, identifying 278 common risk variants contributing to a multiethnic polygenic risk score, with rare variants focused on a...
Cancer geneticsGenetics researchProstateProstate cancer
10.1038/S41467-023-43726-W
ISSN:2041-1723
Applying a genetic risk score model to enhance prediction of future multiple sclerosis diagnosis at first presentation with optic neuritis
Pavel Loginovic•Feiyi Wang•Jiang Li•Lauric Ferrat•Uyenlinh L. Mirshahi等 15 人
Nature Communications
2024
•2024/2/28
•Vol.15 No.1 p.1-13
Optic neuritis (ON) is associated with numerous immune-mediated inflammatory diseases, but 50% patients are ultimately diagnosed with multiple sclerosis (MS). Differentiating MS-ON from non-MS-ON acutely is challenging but important; non-MS ON often requires urgent immunosuppression to preserve visi...
Genetics researchMultiple sclerosisOptic nerve diseasesTranslational research
10.1038/S41467-024-44917-9
ISSN:2041-1723
Identification of plasma proteomic markers underlying polygenic risk of type 2 diabetes and related comorbidities
Douglas P. Loesch•Manik Garg•Dorota Matelska•Dimitrios Vitsios•Xiao Jiang等 21 人
Nature Communications
2025
•2025/3/3
•Vol.16 No.1 p.1-16
Genomics can provide insight into the etiology of type 2 diabetes and its comorbidities, but assigning functionality to non-coding variants remains challenging. Polygenic scores, which aggregate variant effects, can uncover mechanisms when paired with molecular data. Here, we test polygenic scores f...
Personalized medicineType 2 diabetes
10.1038/S41467-025-56695-Z
ISSN:2041-1723