Evidence map›Paper›PMID 37921506›Full record

ArticleCurrent protocols2023

Pragmatic Approach to Applying Polygenic Risk Scores to Diverse Populations.

Aniruddh P Patel, Akl C Fahed

Abstract read
In one paragraph

Article in Current protocols, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing 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

10 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Review
  5. The Interrelationship between Preconception Folate Nutritional Intake and Child Genetic Liability in the Risk of Childhood Acute Lymphoblastic Leukemia.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2025
    Article
  6. Article
  7. Review
  8. Polygenic Risk Scores in Human Disease.Clinical chemistry · 2025
    Review
  9. Article
  10. 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

2 authors.

Aniruddh P PatelCardiovascular Research Center, Massachusetts General Hospital, Boston, Massachusetts.
Akl C FahedCardiovascular Research Center, Massachusetts General Hospital, Boston, Massachusetts.

Funding

Enabling improved applicability and transferability of polygenic scores across populationsU01HG011719 · NHGRI · MASSACHUSETTS GENERAL HOSPITAL · PI Alicia Martin · 2021 to 2026
$5.5M
Coronary plaque changes with statin and colchicine among people with high polygenic risk- a mechanistic pilot studyR01HL164629 · NHLBI · MASSACHUSETTS GENERAL HOSPITAL · PI Akl C Fahed, Michael TseYin Lu · 2023 to 2026
$3.3M
Integrating genomic and nongenomic risk for coronary artery diseaseK08HL161448 · NHLBI · MASSACHUSETTS GENERAL HOSPITAL · PI Akl C Fahed · 2022 to 2026
$751k
NHGRI NIH HHS U01 HG011719NHLBI NIH HHS K08 HL161448NHLBI NIH HHS R01 HL164629
6 · The paper itself

Abstract

Polygenic risk scores (PRS) estimate genetic susceptibility of an individual to disease and have the potential of providing utility in multiple clinical contexts. However, their performance, computation, and reporting in diverse populations remain challenging. Here, we present a pragmatic approach to optimize a PRS for a population of interest that leverages publicly available data and methods and consists of seven steps that are easily implemented without the requirement of expertise in complex genetics: step 1, selecting source genome-wide association studies (GWAS) and imputation; step 2, selecting methods to compute polygenic score; step 3, adjusting scores using principal components of genetic ancestry; step 4, selecting the best performing score; step 5, defining percentiles of a population distribution; step 6, validating performance of the optimized polygenic score; and step 7, implementing the optimized polygenic score in clinical practice. © 2023 Wiley Periodicals LLC.

Indexed as

Genetic Predisposition to DiseaseGenome-Wide Association StudyHumansMultifactorial InheritanceRisk Factorsancestrydiversitygenome wide association studiesgenomic risk predictionGWASpolygenic risk scoresPRS

Identifiers

PMID37921506
PMCPMC11196001

What Socratic 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 Socratic graph.