Evidence map›Paper›PMID 35513724›Full record

ArticleNature genetics2022

Improving polygenic prediction in ancestrally diverse populations.

Yunfeng Ruan, Yen-Feng Lin, Yen-Chen Anne Feng, Chia-Yen Chen, Max Lam, Zhenglin Guo, Stanley Global Asia Initiatives, Lin He, Akira Sawa, Alicia R Martin and 3 more

Erratum issuedOpen access · greenAbstract read
In one paragraph

Article in Nature genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 480 papers, 9 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
480citing papers in PubMed, 9 pooled it
118.7field-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

480 citing papers in PubMed, 9 syntheses or guidelines pooled it, 649 citations in OpenAlex.

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  13. Neuropsychiatry genetics in Africa.Nature communications · 2026
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420 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

13 authors at 20 institutions in 9 countries.

Yunfeng RuanStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Yen-Feng LinCenter for Neuropsychiatric Research, National Health Research Institutes, Miaoli, Taiwan.ORCID http://orcid.org/0000-0003-3017-6026
Yen-Chen Anne FengStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0003-2116-3645
Chia-Yen ChenBiogen, Cambridge, MA, USA.ORCID http://orcid.org/0000-0001-9548-5597
Max LamStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0002-4256-7844
Zhenglin GuoStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Stanley Global Asia Initiatives
Lin HeBio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), Shanghai Jiao Tong University, Shanghai, China.
Akira SawaDepartments of Psychiatry, Neuroscience, Biomedical Engineering, Genetic Medicine, and Mental Health, Johns Hopkins University School of Medicine and Bloomberg School of Public Health, Baltimore, MD, USA.ORCID http://orcid.org/0000-0003-1401-3008
Alicia R MartinStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0003-0241-3522
Shengying QinBio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), Shanghai Jiao Tong University, Shanghai, China. chinsir@sjtu.edu.cn.ORCID http://orcid.org/0000-0002-8458-5960
Hailiang HuangStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA. hhuang@broadinstitute.org.ORCID http://orcid.org/0000-0003-1461-5762
Tian GeStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA. tge1@mgh.harvard.edu.ORCID http://orcid.org/0000-0003-4785-4444
Broad Institute · USFujita Health University · JPSamsung Medical Center · KRSeoul National University Hospital · KRShiga University of Medical Science · JPNational Center of Neurology and Psychiatry · JPAgency for Science, Technology and Research · SGChonnam National University · KRDigital China Health (China) · CNHarvard University · USInstitute of Mental Health · SGRIKEN Center for Brain Science · JPSeoul National University Bundang Hospital · KRThe University of Western Australia · AUTokyo Metropolitan Institute of Medical Science · JPUniversity of Indonesia · IDBiogen (United States) · USCentral South University · CNEulji University · KRJohns Hopkins University · US

Funding

Project 3P50MH094268 · NIMH · JOHNS HOPKINS UNIVERSITY · PI GALLAGHER, MICHELA · 2011 to 2020
$19.9M
Finding Genomic Profiles of COVID-19 Phenotypes from the EHRU01HG008685 · NHGRI · BRIGHAM AND WOMEN'S HOSPITAL · PI ELIZABETH W KARLSON, Matthew S Lebo · 2015 to 2026
$13.6M
Development of Polygenic Risk Scores for Diabetes and Complications across the Life-Span in Populations of Multiple AncestriesU01HG011723 · NHGRI · BROAD INSTITUTE, INC. · PI Alisa Knodle Manning, Josep Maria Mercader · 2021 to 2026
$5.7M
2/7 Psychiatric Genomics Consortium: Finding Actionable VariationU01MH109539 · NIMH · MASSACHUSETTS GENERAL HOSPITAL · PI DALY, MARK JOSEPH · 2016 to 2020
$4.7M
Exploring the genetic basis of AD progressionR00AG054573 · NIA · MASSACHUSETTS GENERAL HOSPITAL · PI GE, TIAN · 2020 to 2022
$732k
Generalizing polygenic risk prediction methods across populations for insights into psychiatric diseaseR00MH117229 · NIMH · MASSACHUSETTS GENERAL HOSPITAL · PI MARTIN, ALICIA · 2020 to 2022
$724k
Genetics and gene regulation in the inflammatory bowel diseasesK01DK114379 · NIDDK · MASSACHUSETTS GENERAL HOSPITAL · PI HUANG, HAILIANG · 2017 to 2021
$632k
Exploring the genetic basis of AD progressionK99AG054573 · NIA · MASSACHUSETTS GENERAL HOSPITAL · PI GE, TIAN · 2017 to 2018
$274k
Generalizing polygenic risk prediction methods across populations for insights into psychiatric diseaseK99MH117229 · NIMH · MASSACHUSETTS GENERAL HOSPITAL · PI MARTIN, ALICIA · 2018 to 2019
$262k
NHGRI NIH HHS U01 HG008685NHGRI NIH HHS U01 HG011723NIA NIH HHS K99 AG054573NIA NIH HHS R00 AG054573NIDDK NIH HHS K01 DK114379NIMH NIH HHS K99 MH117229NIMH NIH HHS P50 MH094268NIMH NIH HHS R00 MH117229NIMH NIH HHS U01 MH109539
6 · The paper itself

Abstract

Polygenic risk scores (PRS) have attenuated cross-population predictive performance. As existing genome-wide association studies (GWAS) have been conducted predominantly in individuals of European descent, the limited transferability of PRS reduces their clinical value in non-European populations, and may exacerbate healthcare disparities. Recent efforts to level ancestry imbalance in genomic research have expanded the scale of non-European GWAS, although most remain underpowered. Here, we present a new PRS construction method, PRS-CSx, which improves cross-population polygenic prediction by integrating GWAS summary statistics from multiple populations. PRS-CSx couples genetic effects across populations via a shared continuous shrinkage (CS) prior, enabling more accurate effect size estimation by sharing information between summary statistics and leveraging linkage disequilibrium diversity across discovery samples, while inheriting computational efficiency and robustness from PRS-CS. We show that PRS-CSx outperforms alternative methods across traits with a wide range of genetic architectures, cross-population genetic overlaps and discovery GWAS sample sizes in simulations, and improves the prediction of quantitative traits and schizophrenia risk in non-European populations.

Indexed as

Genetic Predisposition to DiseaseGenome-Wide Association StudyGenetics, PopulationHumansLinkage DisequilibriumMultifactorial InheritanceRisk Factors

Identifiers

PMID35513724
PMCPMC9117455
OpenAlexW4229035861

What OpenQuestion holds

Textmetadata
LicenceTDM
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.