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

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:...

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Bibliographic Details
Authors: Laplana Lafaja, Marina, López Ortega, Ricard, Fibla Palazón, Joan
Format: article
Status:Published version
Publication Date:2024
Country:España
Institution:Universitat de Lleida (UdL)
Repository:Repositori Obert UdL
OAI Identifier:oai:repositori.udl.cat:10459.1/464993
Online Access:https://doi.org/10.1016/j.ijmedinf.2023.105333
https://hdl.handle.net/10459.1/464993
Access Level:Open access
Keyword:Polygenic risk score
Online tool
PRS comparator
Description
Summary: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.