Evidence map›Paper›PMID 38169469›Full record

ArticleNature communications2024

Tuning parameters for polygenic risk score methods using GWAS summary statistics from training data.

Wei Jiang, Ling Chen, Matthew J Girgenti, Hongyu Zhao

Abstract read
In one paragraph

Article in Nature communications, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.

0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

15 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. PreoperativeFrontiers in bioinformatics · 2026
    Review
  5. Article
  6. Article
  7. GRPa-PRS: A risk stratification method to identify genetically-regulated pathways in polygenic diseases.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025
    Article
  8. Review
  9. Article
  10. Review
  11. Article
  12. Fast and scalable ensemble learning method for versatile polygenic risk prediction.Proceedings of the National Academy of Sciences of the United States of America · 2024
    Article
  13. Article
  14. Article
  15. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

4 authors.

Wei JiangDepartment of Biostatistics, Yale School of Public Health, New Haven, CT, USA.ORCID 0000-0001-6120-5278
Ling ChenDepartment of Statistics, Columbia University, New York, NY, USA.
Matthew J GirgentiDepartment of Psychiatry, Yale School of Medicine, New Haven, CT, USA.ORCID 0000-0003-1647-326X
Hongyu ZhaoDepartment of Biostatistics, Yale School of Public Health, New Haven, CT, USA. hongyu.zhao@yale.edu.ORCID 0000-0003-1195-9607

Funding

Yale Clinical and Translational Science Award (U Component)UL1TR001863 · NCATS · YALE UNIVERSITY · PI John H. Krystal, LUCILA OHNO-MACHADO · 2016 to 2026
$102.9M
Statistical Methods for Genetic Risk Predictions across Diverse PopulationsR01HG012735 · NHGRI · YALE UNIVERSITY · PI ZHAO, HONGYU · 2022 to 2025
$2.4M
Novel statistical methods and tools to integrate multiple endophenotypes and functional annotation data to study the roles of rare variants in complex human diseases using sequencing dataR01GM134005 · NIGMS · YALE UNIVERSITY · PI WU, BAOLIN, ZHAO, HONGYU · 2020 to 2023
$1.6M
NCATS NIH HHS UL1 TR001863NHGRI NIH HHS R01 HG012735NIGMS NIH HHS R01 GM134005
6 · The paper itself

Abstract

Various polygenic risk scores (PRS) methods have been proposed to combine the estimated effects of single nucleotide polymorphisms (SNPs) to predict genetic risks for common diseases, using data collected from genome-wide association studies (GWAS). Some methods require external individual-level GWAS dataset for parameter tuning, posing privacy and security-related concerns. Leaving out partial data for parameter tuning can also reduce model prediction accuracy. In this article, we propose PRStuning, a method that tunes parameters for different PRS methods using GWAS summary statistics from the training data. PRStuning predicts the PRS performance with different parameters, and then selects the best-performing parameters. Because directly using training data effects tends to overestimate the performance in the testing data, we adopt an empirical Bayes approach to shrinking the predicted performance in accordance with the genetic architecture of the disease. Extensive simulations and real data applications demonstrate PRStuning's accuracy across PRS methods and parameters.

Indexed as

Genetic Risk ScoreGenome-Wide Association StudyBayes TheoremGenetic Predisposition to DiseaseHumansMultifactorial InheritancePolymorphism, Single NucleotideRisk Factors

Identifiers

PMID38169469
PMCPMC10762162

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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.