Evidence map›Paper›PMID 38310129›Full record

ArticleNature communications2024

Improving polygenic risk prediction in admixed populations by explicitly modeling ancestral-differential effects via GAUDI.

Quan Sun, Bryce T Rowland, Jiawen Chen, Anna V Mikhaylova, Christy Avery, Ulrike Peters, Jessica Lundin, Tara Matise, Steve Buyske, Ran Tao and 8 more

Open access · goldAbstract 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 53 papers.

0numbers the graph read from it
0cells of the map it votes in
53citing papers in PubMed
27.5field-weighted citation impact, top 1% of its field
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

53 citing papers in PubMed, 55 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Cross-ancestry polygenic risk scores enhance Alzheimer's disease risk prediction in multiethnic cohorts.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2026
    Article
  5. Review
  6. Article
  7. Article
  8. Review
  9. Review
  10. Observational
  11. Article
  12. Article
  13. Article
  14. Review
  15. Review
  16. Polygenic risk score translation across diverse populations.Frontiers in cardiovascular medicine · 2026
    Review
  17. Article
  18. Review
  19. Article
  20. 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

18 authors at 7 institutions in 1 country.

Quan Sun *Department of Biostatistics, University of North Carolina at Chapel Hill, Chapel Hill, NC, 27599, USA.ORCID 0000-0001-8324-2803
Bryce T Rowland *Department of Biostatistics, University of North Carolina at Chapel Hill, Chapel Hill, NC, 27599, USA.
Jiawen ChenDepartment of Biostatistics, University of North Carolina at Chapel Hill, Chapel Hill, NC, 27599, USA.
Anna V MikhaylovaDepartment of Biostatistics, University of Washington, Seattle, WA, 98195, USA.ORCID 0000-0002-8350-5228
Christy AveryDepartment of Epidemiology, University of North Carolina at Chapel Hill, Chapel Hill, NC, 27599, USA.ORCID 0000-0002-1044-8162
Ulrike PetersDivision of Public Health Sciences, Fred Hutchinson Cancer Center, Seattle, WA, 98109, USA.ORCID 0000-0001-5666-9318
Jessica LundinDivision of Public Health Sciences, Fred Hutchinson Cancer Center, Seattle, WA, 98109, USA.
Tara MatiseDepartment of Genetics, Rutgers University, New Brunswick, NJ, 08901, USA.
Steve BuyskeDepartment of Statistics, Rutgers University, New Brunswick, NJ, 08901, USA.ORCID 0000-0001-8539-5416
Ran TaoVanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN, 37232, USA.
Rasika A MathiasDepartment of Medicine, Johns Hopkins University, Baltimore, MD, 21287, USA.ORCID 0000-0002-2282-9042
Alexander P ReinerDepartment of Epidemiology, University of Washington, Seattle, WA, 98195, USA.ORCID 0000-0002-1427-4470
Paul L AuerDivision of Biostatistics, Institute for Health and Equity, and Cancer Center, Medical College of Wisconsin, Milwaukee, WI, 53226, USA.ORCID 0000-0003-1735-8044
Nancy J CoxVanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN, 37232, USA.
Charles KooperbergDivision of Public Health Sciences, Fred Hutchinson Cancer Center, Seattle, WA, 98109, USA.ORCID 0000-0002-7986-8560
Timothy A ThorntonDepartment of Biostatistics, University of Washington, Seattle, WA, 98195, USA.
Laura M RaffieldDepartment of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, 27599, USA.ORCID 0000-0002-7892-193X
Yun LiDepartment of Biostatistics, University of North Carolina at Chapel Hill, Chapel Hill, NC, 27599, USA. yun_li@med.unc.edu.ORCID 0000-0002-9275-4189
University of North Carolina at Chapel Hill · USFred Hutch Cancer Center · USUniversity of Washington · USRutgers, The State University of New Jersey · USVanderbilt University Medical Center · USJohns Hopkins University · USMedical College of Wisconsin · US

Funding

Back Pain Consortium (BACPAC) Research Program Data Integration, Algorithm Development and Operations Management CenterU24AR076730 · NIAMS · UNIV OF NORTH CAROLINA CHAPEL HILL · PI ANSTROM, KEVIN J, IVANOVA, ANASTASIA · 2019 to 2024
$60.0M
WOMEN'S HEALTH INITIATIVE - CLINICAL COORDINATING CENTER: TASK AREA B - LONG LIFE STUDY VISIT 2 LIMITED HOME VISIT75N92021D00001 · NHLBI · FRED HUTCHINSON CANCER RESEARCH CENTER · PI ANDERSON, GARNET L. · 2021 to 2025
$52.0M
Polygenic Risk Scores for Diverse Populations - Bridging Research and Clinical CareR01HL151152 · NHLBI · FRED HUTCHINSON CANCER RESEARCH CENTER · PI Christy Leigh Avery, Jennifer Below · 2020 to 2026
$12.3M
North Carolina Translational and Clinical Science Institute (NC TraCS) KL2KL2TR002490 · NCATS · UNIV OF NORTH CAROLINA CHAPEL HILL · PI WEINBERGER, MORRIS · 2018 to 2022
$11.0M
WOMEN'S HEALTH INITIATIVE (WHI) REGIONAL CENTER (RC): TASK AREA A AND A275N92021D00002 · NHLBI · STATE UNIVERSITY OF NEW YORK AT BUFFALO · PI WACTAWSKI-WENDE, JEAN · 2021 to 2025
$6.9M
PAGE III: Population Architecture using Genomics and EpidemiologyR01HG010297 · NHGRI · RUTGERS, THE STATE UNIV OF N.J. · PI GIGNOUX, CHRISTOPHER R, MATISE, TARA C. · 2019 to 2022
$6.5M
WOMEN'S HEALTH INITIATIVE (WHI) REGIONAL CENTER (RC) - TO EXERCISE OPTION PERIOD ONE (1) AND REVISE CONTRACT ARTICLES.75N92021D00004 · NHLBI · STANFORD UNIVERSITY · PI STEFANICK, MARCIA · 2021 to 2025
$6.5M
Polygenic risk scores for cardiometabolic disorders: the role of blood cells immune response and evolutionary adaptationU01HG011720 · NHGRI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Yun Li, ALEXANDER P REINER · 2021 to 2026
$5.4M
WOMEN'S HEALTH INITIATIVE (WHI) REGIONAL CENTER (RC) - TO EXERCISE OPTION PERIOD ONE (1) AND REVISE CONTRACT ARTICLES.75N92021D00003 · NHLBI · OHIO STATE UNIVERSITY · PI JACKSON, REBECCA · 2021 to 2025
$5.0M
WOMEN'S HEALTH INITIATIVE (WHI) REGIONAL CENTER (RC) - TO EXERCISE OPTION PERIOD ONE (1) AND REVISE CONTRACT ARTICLES.75N92021D00005 · NHLBI · WAKE FOREST UNIVERSITY HEALTH SCIENCES · PI VITOLINS, MARA · 2021 to 2025
$4.2M
NCATS NIH HHS KL2 TR002490NHGRI NIH HHS R01 HG010297NHGRI NIH HHS U01 HG011720NHLBI NIH HHS 75N92021D00001NHLBI NIH HHS 75N92021D00002NHLBI NIH HHS R01 HL151152NIAMS NIH HHS U24 AR076730WHI NIH HHS 75N92021D00003WHI NIH HHS 75N92021D00004WHI NIH HHS 75N92021D00005
6 · The paper itself

Abstract

Polygenic risk scores (PRS) have shown successes in clinics, but most PRS methods focus only on participants with distinct primary continental ancestry without accommodating recently-admixed individuals with mosaic continental ancestry backgrounds for different segments of their genomes. Here, we develop GAUDI, a novel penalized-regression-based method specifically designed for admixed individuals. GAUDI explicitly models ancestry-differential effects while borrowing information across segments with shared ancestry in admixed genomes. We demonstrate marked advantages of GAUDI over other methods through comprehensive simulation and real data analyses for traits with associated variants exhibiting ancestral-differential effects. Leveraging data from the Women's Health Initiative study, we show that GAUDI improves PRS prediction of white blood cell count and C-reactive protein in African Americans by > 64% compared to alternative methods, and even outperforms PRS-CSx with large European GWAS for some scenarios. We believe GAUDI will be a valuable tool to mitigate disparities in PRS performance in admixed individuals.

Indexed as

Black or African AmericanGenetic Risk ScoreSoftwareComputer SimulationGenetic Predisposition to DiseaseGenome, HumanGenome-Wide Association StudyHumansPhenotypeRisk Factors

Identifiers

PMID38310129
PMCPMC10838303
OpenAlexW4391512630

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

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.