ApplyPolygenicScore: An R package for applying polygenic risk score models.

ABSTRACT:

Purpose

A polygenic score (PGS) predicts an individual's genetic predisposition to a complex trait. A PGS is created by estimating the relative contributions of multiple common variants to the overall trait, creating a polygenic risk model (PGM). The PGM is then applied by combining its weights with the genotypes of a specific individual to estimate individual-specific genetic predisposition. Genome-wide association studies have served as the basis for thousands of PGMs, leading to many studies associating PGSs with a range of outcomes.

Methods

To simplify, improve, and automate this task, we developed ApplyPolygenicScore, an open-source R package for applying standardized PGMs to new genetic data. We demonstrate its capabilities in a case study, applying a PGM for bo

SUBMITTER: Zeltser N 

PROVIDER: S-EPMC12755996 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature