Evidence map›Paper›PMID 25200660›Full record

ReviewNature reviews. Genetics2014

Detecting epistasis in human complex traits.

Wen-Hua Wei, Gibran Hemani, Chris S Haley

Abstract readReview
PubMed Publisher
In one paragraph

Review in Nature reviews. Genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 231 papers, 4 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
231citing 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.

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

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

  1. Pooled it
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  12. Predicting epistasis across proteins by structural logic.Proceedings of the National Academy of Sciences of the United States of America · 2026
    Article
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  16. Interactions with polygenic background impact quantitative traits in the UK Biobank.medRxiv : the preprint server for health sciences · 2025
    Article
  17. Article
  18. Article
  19. Article
  20. Article

171 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.

Wen-Hua Wei1] Arthritis Research UK Centre for Genetics and Genomics, Institute of Inflammation and Repair, University of Manchester, Manchester M13 9PT, UK. [2] Medical Research Council (MRC) Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK. [3].
Gibran Hemani1] MRC Integrative Epidemiology Unit, University of Bristol, Bristol BS8 2BN, UK. [2] Queensland Brain Institute Centre, University of Queensland, Brisbane, Queensland 4072, Australia. [3] University of Queensland Diamantina Institute, University of Queensland, Princess Alexandra Hospital, Brisbane, Queensland 4072, Australia. [4].
Chris S Haley1] Medical Research Council (MRC) Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK. [2] The Roslin Institute and Royal (Dick) School of Veterinary Sciences, University of Edinburgh, Midlothian EH25 9RG, UK.

Funding

Biotechnology and Biological Sciences Research Council BB/H024484/2Biotechnology and Biological Sciences Research Council BBS/E/D/20211553Medical Research Council MC_PC_U127592696Medical Research Council MC_UU_12013/1Medical Research Council MC_UU_12013/1-9NIGMS NIH HHS GM057091
6 · The paper itself

Abstract

Genome-wide association studies (GWASs) have become the focus of the statistical analysis of complex traits in humans, successfully shedding light on several aspects of genetic architecture and biological aetiology. Single-nucleotide polymorphisms (SNPs) are usually modelled as having additive, cumulative and independent effects on the phenotype. Although evidently a useful approach, it is often argued that this is not a realistic biological model and that epistasis (that is, the statistical interaction between SNPs) should be included. The purpose of this Review is to summarize recent directions in methodology for detecting epistasis and to discuss evidence of the role of epistasis in human complex trait variation. We also discuss the relevance of epistasis in the context of GWASs and potential hazards in the interpretation of statistical interaction terms.

Indexed as

AlgorithmsEpistasis, GeneticGenome, HumanGenome-Wide Association StudyGenotypeHumansLinkage DisequilibriumModels, BiologicalPhenotypePolymorphism, Single Nucleotide

Identifiers

PMID25200660

What Socratic 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 Socratic graph.