Evidence map›Paper›PMID 18852205›Full record

ReviewHuman molecular genetics2008

Genome-wide association studies: potential next steps on a genetic journey.

Mark I McCarthy, Joel N Hirschhorn

Abstract readReview
In one paragraph

Review in Human molecular genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 184 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
184citing papers in PubMed, 3 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.

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

184 citing papers in PubMed, 3 syntheses or guidelines pooled it.

  1. Pooled it
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  8. Review
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  16. CandiHap: a haplotype analysis toolkit for natural variation study.Molecular breeding : new strategies in plant improvement · 2023
    Article
  17. Article
  18. The missing heritability in type 1 diabetes.Diabetes, obesity & metabolism · 2022
    Review
  19. Three legs of the missing heritability problem.Studies in history and philosophy of science · 2022
    Article
  20. Article

124 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

2 authors.

Mark I McCarthyOxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Churchill Hospital, Oxford OX3 7LJ, UK. mark.mccarthy@drl.ox.ac.uk
Joel N Hirschhorn

Funding

NIDDK NIH HHS R01DK075875
6 · The paper itself

Abstract

Genome-wide association studies have successfully identified numerous loci at which common variants influence disease risk or quantitative traits. Despite these successes, the variants identified by these studies have generally explained only a small fraction of the heritable component of disease risk, and have not pinpointed with certainty the causal variant(s) at the associated loci. Furthermore, the mechanisms of action by which associated loci influence disease or quantitative phenotypes are often unclear, because we do not know through which gene(s) the associated variants exert their effects or because these gene(s) are of unknown function or have no clear connection to known disease biology. Thus, the initial set of genome-wide association studies serve as a starting point for future genetic and functional studies. We outline possible next steps that may help accelerate progress from genetic studies to the biological knowledge that can guide the development of predictive, preventive, or therapeutic measures.

Indexed as

Genetic Predisposition to DiseaseGenome-Wide Association StudyGenetic VariationGenome, HumanGenotypeHumansPhenotype

Identifiers

PMID18852205
PMCPMC2782356

What OpenQuestion holds

Textmetadata
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.