ArticleGenome biology2021
PUMAS: fine-tuning polygenic risk scores with GWAS summary statistics.
Article in Genome biology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers, 1 of them a synthesis that pooled it.
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Who cites it
45 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Multi-ancestry and multi-trait genome-wide association meta-analyses inform clinical risk prediction for systemic lupus erythematosus.Nature communications · 2023Pooled it
- Development and application of type 1 diabetes polygenic scores across diverse populations.Diabetologia · 2026Review
- Evidence standards for multi-ancestry polygenic prediction.Genome biology · 2026Review
- MIXPRS enables multi-population and multi-method polygenic risk scores using summary statistics.Nature genetics · 2026Article
- Integrating common and rare variants improves polygenic risk prediction across diverse populations.Nature communications · 2026Article
- Integrating network annotation from multiple correlated traits to improve polygenic risk scores based on GWAS summary statistics.Research square · 2026Article
- Comparison of Methods for Sensitivity Analysis of Heterogeneous Treatment Effects in Observational Studies and Application to Alzheimer's Disease and Cognitive Decline.Statistics in medicine · 2026Article
- Statistical uncertainty explains the poor agreement in polygenic scoring for type 2 diabetes.medRxiv : the preprint server for health sciences · 2026Article
- Integrated multi-omics profiling identifies genetic loci of African swine fever resistance in pigs.GigaScience · 2026Article
- Evaluating genetic-based disease prediction approaches through simulation.Human genetics · 2026Article
- Statistical construction of calibrated prediction intervals for polygenic score-based phenotype prediction.Nature genetics · 2025Article
- PTL-PRS: an R package for transfer learning of polygenic risk scores with pseudovalidation.Bioinformatics (Oxford, England) · 2025Article
- Data sharing in the PRIMED Consortium: Design, implementation, and recommendations for future policymaking.American journal of human genetics · 2025Review
- Toward whole-genome inference of polygenic scores with fast and memory-efficient algorithms.American journal of human genetics · 2025Article
- Almost Free Enhancement of Multi-Population PRS: From Data-Fission to Pseudo-GWAS Subsampling.bioRxiv : the preprint server for biology · 2025Article
- Enhancing the discriminatory power of polygenic scores for ADHD and autism in clinical and non-clinical samples.Journal of neurodevelopmental disorders · 2025Article
- PennPRS: a centralized cloud computing platform for efficient polygenic risk score training in precision medicine.medRxiv : the preprint server for health sciences · 2025Article
- One score to rule them all: regularized ensemble polygenic risk prediction with GWAS summary statistics.bioRxiv : the preprint server for biology · 2024Article
- Identification of genetic basis of brain imaging by group sparse multi-task learning leveraging summary statistics.Computational and structural biotechnology journal · 2024Article
- Optimizing and benchmarking polygenic risk scores with GWAS summary statistics.Genome biology · 2024Article
Corrections and comments
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Authors and funding
9 authors.
Funding
Abstract
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 traits, we demonstrate that PUMAS can perform various model-tuning procedures using GWAS summary statistics and effectively benchmark and optimize PRS models under diverse genetic architecture. Furthermore, we show that fine-tuned PRSs will significantly improve statistical power in downstream association analysis.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.