Evidence map›Paper›PMID 19293820›Full record

ReviewNature reviews. Genetics2009

Human genetic variation and its contribution to complex traits.

Kelly A Frazer, Sarah S Murray, Nicholas J Schork, Eric J Topol

Registry-linked trialAbstract readReview
PubMed Publisher
In one paragraph

Review in Nature reviews. Genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02146872 (Premature Coronary Artery Disease - Clinical and Molecular Genetic Aspects), which is not on this map. Cited by 485 papers, 4 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
485citing papers in PubMed, 4 pooled it
–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.

NCT02146872 unknown statusnot on this mapstarted 2014, after this paper: background citation

Premature Coronary Artery Disease - Clinical and Molecular Genetic Aspects

TypeobservationalSponsorAarhus University Hospital SkejbyRan2014 to 2016Enrolled400ConditionsCoronary Artery Disease, Myocardial Infarction, Atherosclerosis
3 · Its place in the literature

Who cites it

485 citing papers in PubMed, 4 syntheses or guidelines pooled it.

  1. Guideline
  2. Pooled it
  3. Pooled it
  4. Pooled it
  5. Trial
  6. Article
  7. Article
  8. Article
  9. Article
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  11. Fluorescence-Based Detection ofMethods and protocols · 2025
    Article
  12. Review
  13. Generative prediction of causal gene sets responsible for complex traits.Proceedings of the National Academy of Sciences of the United States of America · 2025
    Article
  14. Ex vivo functional whole organ in biomedical research: a review.Journal of artificial organs : the official journal of the Japanese Society for Artificial Organs · 2025
    Review
  15. Review
  16. Article
  17. Article
  18. Review
  19. Article
  20. Article

425 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

4 authors.

Kelly A FrazerScripps Genomic Medicine, Scripps Translational Science Institute and The Scripps Research Institute, La Jolla, California 92037, USA. kfrazer@scripps.edu
Sarah S Murray
Nicholas J Schork
Eric J Topol

Funding

SCRIPPS TRANSLATIONAL SCIENCE INSTITUTE (UL1)UL1RR025774 · NCRR · SCRIPPS RESEARCH INSTITUTE, THE · PI TOPOL, ERIC JEFFREY · 2008 to 2011
$16.3M
NCRR NIH HHS 1U54RR025204-01NCRR NIH HHS UL1 RR025774
6 · The paper itself

Abstract

The last few years have seen extensive efforts to catalogue human genetic variation and correlate it with phenotypic differences. Most common SNPs have now been assessed in genome-wide studies for statistical associations with many complex traits, including many important common diseases. Although these studies have provided new biological insights, only a limited amount of the heritable component of any complex trait has been identified and it remains a challenge to elucidate the functional link between associated variants and phenotypic traits. Technological advances, such as the ability to detect rare and structural variants, and a clear understanding of the challenges in linking different types of variation with phenotype, will be essential for future progress.

Indexed as

Genetic VariationPhenotypeBase SequenceGenetic Predisposition to DiseaseGenome, HumanGenome-Wide Association StudyGenotypeHumansLinkage DisequilibriumMolecular Sequence DataPolymorphism, Single Nucleotide

Identifiers

PMID19293820

What OpenQuestion holds

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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 OpenQuestion graph.