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PUMAS: fine-tuning polygenic risk scores with GWAS summary statistics.

Genome biology - 6 Sept 2021

Zhao Zijie, Yi Yanyao, Song Jie, Wu Yuchang, Zhong Xiaoyuan, Lin Yupei, Hohman Timothy J, Fletcher Jason, Lu Qiongshi

Abstract excerpt

Polygenic risk scores (PRSs) have wide applications in human genetics research, but often include tuning parameters which are difficult to optimize in practice due to limited access to individual-level data. Here, we introduce PUMAS, a novel method to fine-tune PRS models using summary statistics from genome-wide association studies (GWASs). Through extensive simulations, external validations, and analysis of 65...

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Identifiers

PMID: 34488838
DOI: 10.1186/s13059-021-02479-9
PMCID: PMC8419981

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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