Optimizing and benchmarking polygenic risk scores with GWAS summary statistics

Abstract 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 ensem...

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Bibliographic Details

Published in:	Genome Biology
Main Authors:	Zijie Zhao, Tim Gruenloh, Meiyi Yan, Yixuan Wu, Zhongxuan Sun, Jiacheng Miao, Yuchang Wu, Jie Song, Qiongshi Lu
Format:	Article
Language:	English
Published:	BMC 2024-10-01
Subjects:	Genome-wide association study GWAS summary statistics Polygenic risk score PRS model-tuning PRS benchmark Ensemble learning
Online Access:	https://doi.org/10.1186/s13059-024-03400-w