Evidence map›Paper›PMID 42031785›Full record

ArticleNature communications2026

Integrating common and rare variants improves polygenic risk prediction across diverse populations.

Jacob Williams, Tony Chen, Xing Hua, Wendy Wong, Kai Yu, Peter Kraft, Xihao Li, Haoyu Zhang

Abstract read
In one paragraph

Article in Nature communications, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.

0numbers the graph read from it
0cells of the map it votes in
17citing 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

17 citing papers in PubMed.

  1. Review
  2. Review
  3. An introduction to polygenic scores - methodological basics and recent advances.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2026
    Article
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  6. Review
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  16. Article
  17. Empowering genome-wide association studies via a visualizable test based on the regional association score.Proceedings of the National Academy of Sciences of the United States of America · 2025
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

8 authors.

Jacob WilliamsDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA. jacob.williams@nih.gov.ORCID http://orcid.org/0000-0002-6425-1365
Tony ChenDepartment of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, MA, USA.ORCID http://orcid.org/0000-0002-3269-7629
Xing HuaDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA.
Wendy WongDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA.ORCID http://orcid.org/0000-0001-9850-3797
Kai YuDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA.
Peter KraftDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA.ORCID http://orcid.org/0000-0002-4472-8103
Xihao LiDepartment of Biostatistics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA. xihaoli@unc.edu.ORCID http://orcid.org/0000-0001-8151-0106
Haoyu ZhangDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA. haoyu.zhang2@nih.gov.ORCID http://orcid.org/0000-0001-6423-0444

Funding

Construction and Application of Comprehensive Knowledge Graphs for Alzheimer's DiseaseR01AG085581 · NIA · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Yun Li, Hongtu Zhu · 2024 to 2026
$3.7M
Interdisciplinary training: Statistical Genetics/Genomics and Computational BiologyT32GM135117 · NIGMS · HARVARD UNIVERSITY D/B/A HARVARD SCHOOL OF PUBLIC HEALTH · PI Curtis Huttenhower, XIHONG LIN · 2020 to 2026
$3.1M
National Science Foundation (NSF) DGE-2140743U.S. Department of Health & Human Services | NIH | National Heart, Lung, and Blood Institute (NHLBI) 1R01HL173044U.S. Department of Health & Human Services | NIH | National Institute of General Medical Sciences (NIGMS) T32GM135117U.S. Department of Health & Human Services | NIH | National Institute on Aging (U.S. National Institute on Aging) R01AG085581
6 · The paper itself

Abstract

PRSs predict complex traits by aggregating genetic effects across the genome, yet most models focus on common variants, overlooking rare variants that may contribute to hidden heritability. Here, we develop RICE, a PRS framework integrating both common and rare variants to improve genetic risk prediction across diverse ancestries. RICE constructs separate PRSs: for common variants, it integrates methods using ensemble learning; for rare variants, it uses gene-level testing with functional annotations and penalized regression. We evaluate RICE using simulated datasets and sequencing data from UK Biobank and All of Us, involving up to 740 million genetic variants from 361,939 individuals across diverse ancestries and 11 complex traits. In real data analysis, RICE improves predictive accuracy compared to leading common variant methods for traits with distinct rare variant architectures, particularly lipids and height. For lipid traits, incorporating rare variants increased R

Indexed as

Genetic VariationMultifactorial InheritanceAfrican PeopleEuropean PeopleGenetic Predisposition to DiseaseGenetic Risk ScoreGenome-Wide Association StudyHispanic or LatinoHumansLipidsModels, GeneticPolymorphism, Single NucleotideSouth Asian PeopleUK BiobankWhite PeopleLipids

Identifiers

PMID42031785
PMCPMC13323733

What OpenQuestion holds

Textmetadata
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Registered trials

None linked

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.