PGS - sporedata/researchdesigneR GitHub Wiki

General description

The PGS Catalog is an open database of published polygenic scores (PGS) and the relevant metadata required for accurate application and evaluation.

A polygenic score (PGS) (also be referred to as genetic scores or genomic scores, polygenic risk scores (PRS), or genomic risk scores (GRS) if they predict a discrete phenotype) aggregates the effects of many genetic variants into a single number which predicts genetic predisposition for a phenotype.

Related publications

• Genomic prediction of coronary heart disease
• Polygenic risk scores for prediction of breast cancer and breast cancer subtypes
• Prediction of breast cancer risk based on profiling with common genetic variants
• Personalized risk prediction for type 2 diabetes: the potential of genetic risk scores
• Validation of Genome-Wide Polygenic Risk Scores for Coronary Artery Disease in French Canadians
• Genomic Risk Prediction of Coronary Artery Disease in 480,000 Adults: Implications for Primary Prevention
• Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations
• Risk prediction by genetic risk scores for coronary heart disease is independent of self-reported family history
• Polygenic risk score predicts prevalence of cardiovascular disease in patients with familial hypercholesterolemia
• Genetic risk, coronary heart disease events, and the clinical benefit of statin therapy: an analysis of primary and secondary prevention trials

Data access

More information about PGS can be found at https://www.pgscatalog.org/

To access PGS data, visit https://www.pgscatalog.org/downloads/ OR https://www.pgscatalog.org/docs/