Evidence map›Paper›PMID 37736834›Full record

ArticleCommunications biology2023

Improving genetic risk prediction across diverse population by disentangling ancestry representations.

Prashnna K Gyawali, Yann Le Guen, Xiaoxia Liu, Michael E Belloy, Hua Tang, James Zou, Zihuai He

Abstract read
In one paragraph

Article in Communications biology, 2023. 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. Article
  2. Review
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  5. Article
  6. Review
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  8. Article
  9. A survey on deep learning for polygenic risk scores.Briefings in bioinformatics · 2025
    Review
  10. Article
  11. Article
  12. Article
  13. Article
  14. Article
  15. Article
  16. Article
  17. FairPRS: adjusting for admixed populations in polygenic risk scores using invariant risk minimization.Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing · 2023
    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

7 authors.

Prashnna K GyawaliDepartment of Neurology and Neurological Sciences, Stanford University, Stanford, CA, USA. pgyawali@stanford.edu.ORCID http://orcid.org/0000-0003-1201-6993
Yann Le GuenDepartment of Neurology and Neurological Sciences, Stanford University, Stanford, CA, USA.ORCID http://orcid.org/0000-0001-6649-8364
Xiaoxia LiuDepartment of Neurology and Neurological Sciences, Stanford University, Stanford, CA, USA.
Michael E BelloyDepartment of Neurology and Neurological Sciences, Stanford University, Stanford, CA, USA.
Hua TangDepartment of Genetics, Stanford University, Stanford, CA, USA.ORCID http://orcid.org/0000-0002-0177-8864
James ZouDepartment of Biomedical Data Science, Stanford University, Stanford, CA, USA. jamesz@stanford.edu.ORCID http://orcid.org/0000-0001-8880-4764
Zihuai HeDepartment of Neurology and Neurological Sciences, Stanford University, Stanford, CA, USA. zihuai@stanford.edu.ORCID http://orcid.org/0000-0002-8220-4183

Funding

Statistical and computational methods for integrative analysis of Alzheimer's Disease geneticsR01AG066206 · NIA · STANFORD UNIVERSITY · PI HE, ZIHUAI · 2019 to 2023
$3.5M
NIA NIH HHS R01 AG066206
6 · The paper itself

Abstract

Risk prediction models using genetic data have seen increasing traction in genomics. However, most of the polygenic risk models were developed using data from participants with similar (mostly European) ancestry. This can lead to biases in the risk predictors resulting in poor generalization when applied to minority populations and admixed individuals such as African Americans. To address this issue, largely due to the prediction models being biased by the underlying population structure, we propose a deep-learning framework that leverages data from diverse population and disentangles ancestry from the phenotype-relevant information in its representation. The ancestry disentangled representation can be used to build risk predictors that perform better across minority populations. We applied the proposed method to the analysis of Alzheimer's disease genetics. Comparing with standard linear and nonlinear risk prediction methods, the proposed method substantially improves risk prediction in minority populations, including admixed individuals, without needing self-reported ancestry information.

Indexed as

Alzheimer DiseaseGenetic Predisposition to DiseaseRisk AssessmentBlack or African AmericanDeep LearningEuropean PeopleGenomicsHumansMinority GroupsModels, StatisticalMultifactorial InheritancePhenotypePopulation GroupsRisk

Identifiers

PMID37736834
PMCPMC10517023

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Registered trials

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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.