Polygenic risk score comparator (PRScomp): Test population vs. worldwide populations

Abstract

Background: Polygenic risk scores (PRS) are a powerful tool for predicting an individual's genetic risk for complex diseases.

Methods: We have developed a web service (PRScomp) as a user-friendly tool to evaluate PRS of the user own population and compare it with worldwide populations.

Results: A disease/trait database has been constructed from GWAS Catalog summary statistics. Genotype data of test population is uploaded and merged with the reference dataset (1000 Genome Project and Human Genome Diversity Project) to obtain a file including the common SNPs. The user can select a disease/trait from the database and a curated set of risk markers is used to calculate summatory PRS. Distribution of z-scored PRS values is presented in publication-ready plots and text files that can be downloaded.

Discussion: PRScomp can be useful for public health decision-making by identifying population-specific genetic risk factors and informing the development of targeted interventions for at-risk populations.

Keywords: Online tool; PRS comparator; Polygenic risk score.