ArticleNature genetics2022
Large uncertainty in individual polygenic risk score estimation impacts PRS-based risk stratification.
Article in Nature genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 94 papers, 3 of them syntheses that pooled it.
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Who cites it
94 citing papers in PubMed, 3 syntheses or guidelines pooled it, 140 citations in OpenAlex.
- Fast analysis of biobank-size data and meta-analysis using the BGLR R-package.G3 (Bethesda, Md.) · 2025Pooled it
- Polygenic scores for tobacco use provide insights into systemic health risks in a diverse EHR-linked biobank in Los Angeles.Translational psychiatry · 2024Pooled it
- Can polygenic risk scores contribute to cost-effective cancer screening? A systematic review.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Pooled it
- All of Us diversity and scale yield context-dependent improvements in polygenic prediction.Nature genetics · 2026Article
- Association between body roundness index and progression of cardio-renal-metabolic diseases using multistate models.GeroScience · 2026Article
- Pervasive interactions between exposures and polygenic risk can inform more effective clinical and behavioral interventions.Nature genetics · 2026Article
- The Multiethnic Cohort: A Resource for the Study of Genetic and Nongenetic Cancer Risk across Populations.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2026Article
- Improving Polygenic Risk Prediction for Atherosclerotic Cardiovascular Disease in East Asian Populations.JACC. Asia · 2026Review
- PGS Browser: a public platform for personalized polygenic score analysis and interpretation.Nature communications · 2026Article
- A decade of discovery: Leveraging genomic data in the ABCD study to illuminate adolescent neurodevelopment.Developmental cognitive neuroscience · 2026Review
- Simultaneous Assessment of Genetic and Epigenetic Contributions to the Plasma Lipid Levels with Respect to Cardiovascular Risk.Journal of atherosclerosis and thrombosis · 2026Article
- Characterizing the Uncertainty, Misclassification and Inconsistency of Polygenic Prediction.medRxiv : the preprint server for health sciences · 2026Article
- Empirical evaluation of analytic validity of polygenic scores.Genome medicine · 2026Article
- CalPred yields calibrated intervals for polygenic risk prediction.medRxiv : the preprint server for health sciences · 2026Article
- Evaluating Individual Level Performance of Polygenic Risk Scores Using Early Onset High Genetic Risk Coronary Artery Disease as a Benchmark.medRxiv : the preprint server for health sciences · 2026Article
- Integrating network annotation from multiple correlated traits to improve polygenic risk scores based on GWAS summary statistics.Research square · 2026Article
- Angiographic Burden of Coronary Atherosclerosis Partially Mediates the Association Between ASCVD Risk Factors and Outcomes.Circulation. Genomic and precision medicine · 2026Article
- Review
- Clinical use of polygenic risk scores: current status, barriers and future directions.Nature reviews. Genetics · 2026Review
- Statistical uncertainty explains the poor agreement in polygenic scoring for type 2 diabetes.medRxiv : the preprint server for health sciences · 2026Article
34 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 2 countries.
Funding
Abstract
Although the cohort-level accuracy of polygenic risk scores (PRSs)-estimates of genetic value at the individual level-has been widely assessed, uncertainty in PRSs remains underexplored. In the present study, we show that Bayesian PRS methods can estimate the variance of an individual's PRS and can yield well-calibrated credible intervals via posterior sampling. For 13 real traits in the UK Biobank (n = 291,273 unrelated 'white British'), we observe large variances in individual PRS estimates which impact interpretation of PRS-based stratification; averaging across traits, only 0.8% (s.d. = 1.6%) of individuals with PRS point estimates in the top decile have corresponding 95% credible intervals fully contained in the top decile. We provide an analytical estimator for the expectation of individual PRS variance as a function of SNP heritability, number of causal SNPs and sample size. Our results showcase the importance of incorporating uncertainty in individual PRS estimates into subsequent analyses.
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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.