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Optimizing and benchmarking polygenic risk scores with GWAS summary statistics.

Genome biology - 8 Oct 2024

Zhao Zijie, Gruenloh Tim, Yan Meiyi, Wu Yixuan, Sun Zhongxuan, Miao Jiacheng, Wu Yuchang, Song Jie, Lu Qiongshi

Abstract excerpt

BACKGROUND: Polygenic risk score (PRS) is a major research topic in human genetics. However, a significant gap exists between PRS methodology and applications in practice due to often unavailable individual-level data for various PRS tasks including model fine-tuning, benchmarking, and ensemble learning. RESULTS: We introduce an innovative statistical framework to optimize and benchmark PRS models using summary...

Topics

Genome-Wide Association Study
Humans
Multifactorial Inheritance
Benchmarking
Models, Genetic
Genetic Predisposition to Disease
Linkage Disequilibrium
Genetic Risk Score

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39379999
DOI: 10.1186/s13059-024-03400-w
PMCID: PMC11462675

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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