Evidence mapPaperPMID 27140283Full record

ReviewNature reviews. Genetics2016

Developing and evaluating polygenic risk prediction models for stratified disease prevention.

Nilanjan Chatterjee, Jianxin Shi, Montserrat García-Closas

Registry-linked trialOpen access · greenAbstract readReview
In one paragraph

Review in Nature reviews. Genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT04331535 (Pragmatic Randomized Trial of Polygenic Risk Scoring for Common Diseases in Primary Care), which is not on this map. Cited by 444 papers, 8 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
444citing papers in PubMed, 8 pooled it
66.0field-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.

NCT04331535 naunknown statusnot on this mapstarted 2020, after this paper: background citation

Pragmatic Randomized Trial of Polygenic Risk Scoring for Common Diseases in Primary Care

TypeinterventionalSponsorBoston VA Research Institute, Inc.Ran2020 to 2025Enrolled1,076ConditionsCoronary Artery Disease, Atrial Fibrillation, Type 2 Diabetes, Colorectal CancerArmsPolygenic risk score (PRS)
3 · Its place in the literature

Who cites it

444 citing papers in PubMed, 8 syntheses or guidelines pooled it, 736 citations in OpenAlex.

  1. Pooled it
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  3. mirSNPs as Potential Colorectal Cancer Biomarkers: A Systematic Review.International journal of molecular sciences · 2024
    Pooled it
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  8. Pooled it
  9. Trial
  10. Article
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  13. Polygenic risk scores in neurological disorders: restless legs syndrome as a translational model.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2026
    Article
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384 more citing papers are in PubMed but not listed here.

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

3 authors at 3 institutions in 1 country.

Nilanjan ChatterjeeDepartment of Biostatistics, Bloomberg School of Public Health, Johns Hopkins University.
Jianxin ShiDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland 20892, USA.
Montserrat García-ClosasDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland 20892, USA.
Johns Hopkins University · USNational Cancer Institute · USNational Institutes of Health · US

Funding

Intramural NIH HHS Z99 CA999999
6 · The paper itself

Abstract

Knowledge of genetics and its implications for human health is rapidly evolving in accordance with recent events, such as discoveries of large numbers of disease susceptibility loci from genome-wide association studies, the US Supreme Court ruling of the non-patentability of human genes, and the development of a regulatory framework for commercial genetic tests. In anticipation of the increasing relevance of genetic testing for the assessment of disease risks, this Review provides a summary of the methodologies used for building, evaluating and applying risk prediction models that include information from genetic testing and environmental risk factors. Potential applications of models for primary and secondary disease prevention are illustrated through several case studies, and future challenges and opportunities are discussed.

Indexed as

Genetic Predisposition to DiseaseFamily HealthGenetic TestingGenome-Wide Association StudyGenomicsHumansMultifactorial InheritanceRisk Factors

Identifiers

PMID27140283
PMCPMC6021129
OpenAlexW2345958530

What Socratic holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

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.