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Article

XPRS: a tool for interpretable and explainable polygenic risk score.

Bioinformatics (Oxford, England) - 29 Mar 2025

Kim Na Yeon, Lee Seunggeun

Abstract excerpt

SUMMARY: The polygenic risk score (PRS) is an important method for assessing genetic susceptibility to diseases; however, its clinical utility is limited by a lack of interpretability tools. To address this problem, we introduce eXplainable PRS (XPRS), an interpretation and visualization tool that decomposes PRSs into genes/regions and single nucleotide polymorphism (SNP) contribution scores via Shapley additive...

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Topics

Software
Polymorphism, Single Nucleotide
Humans
Multifactorial Inheritance
Genetic Predisposition to Disease
Genome-Wide Association Study

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Genetic Risk Score

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Identifiers

PMID: 40163718
DOI: 10.1093/bioinformatics/btaf143
PMCID: PMC12043004

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