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Polygenic Risk Score (PRS)

Definition
AI-generated

A polygenic risk score (PRS), also called a polygenic score (PGS), is a weighted sum of trait-associated alleles (or dosages) used to estimate an individual’s genetic liability to a trait or disease, usually constructed from GWAS summary statistics and evaluated in an independent target sample.

Topics
Post-GWAS
Synonyms
Polygenic score (PGS)
URL
https://choishingwan.github.io/PRS-Tutorial/
Related
Absolute Risk Area Under the ROC Curve (AUC) Decision Curve Analysis

Why it matters in GWAS

PRS translates GWAS discoveries into individual-level prediction, stratification, genetic correlation analyses, and experimental contrasts between high- and low-liability individuals.

Example usage

"Participants in the top PRS decile had a 2.1-fold higher risk of disease."

Absolute Risk Area Under the ROC Curve (AUC) Decision Curve Analysis Effect Allele Effect Size Genome-Wide Association Study (GWAS) GWAS Summary Statistics Heritability Lassosum LD Clumping LDpred Multi-Ancestry Polygenic Score Net Reclassification Improvement (NRI) Participation Bias Polygenic Risk Score Portability Polygenic Score Catalog Population Stratification PRS Base Cohort PRS Clumping and Thresholding PRS Target Cohort PRSice-2 Pseudo-R² Risk Stratification Trans-Ancestry GWAS Winner's curse
Related-term network

Click any node to open that term page.

Node order. The current term is first. Next come every page linked from Related terms, in the same top-to-bottom order as that list. Then new terms appear in two-hop layers: for each of those direct neighbors (in that same order), their related terms are appended if not already listed. A third pass does the same for two-hop nodes. The walk stops when a fixed maximum number of nodes is reached.

References

  • Kachuri L, Chatterjee N, Hirbo J, et al. (2024). Principles and methods for transferring polygenic risk scores across global populations. Nat Rev Genet. https://doi.org/10.1038/s41576-023-00637-2
  • Choi SW, Mak TSH, O'Reilly PF. (2020). Tutorial: a guide to performing polygenic risk score analyses. Nat Protoc. https://doi.org/10.1038/s41596-020-0353-1
  • Chatterjee N, et al. (2016). Developing and evaluating polygenic risk prediction models.
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