Evidence map›Paper›PMID 33253293›Full record

ArticlePloS one2020

Novel methods for epistasis detection in genome-wide association studies.

Lotfi Slim, Clément Chatelain, Chloé-Agathe Azencott, Jean-Philippe Vert

Abstract read
In one paragraph

Article in PloS one, 2020. 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. Review
  2. Review
  3. Article
  4. Review
  5. Article
  6. GWAS for main effects and epistatic interactions for grain morphology traits in wheat.Physiology and molecular biology of plants : an international journal of functional plant biology · 2022
    Article
  7. Review
  8. Review
  9. Article
  10. Review
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

4 authors.

Lotfi SlimCBIO-Centre for Computational Biology, Mines ParisTech, Paris, France.ORCID 0000-0002-5362-7750
Clément ChatelainTranslational Sciences, SANOFI R&D, Chilly-Mazarin, France.
Chloé-Agathe AzencottCBIO-Centre for Computational Biology, Mines ParisTech, Paris, France.
Jean-Philippe VertCBIO-Centre for Computational Biology, Mines ParisTech, Paris, France.ORCID 0000-0001-9510-8441

Funding

Wellcome TrustWellcome Trust 076113Wellcome Trust 085475Wellcome Trust 090355
6 · The paper itself

Abstract

More and more genome-wide association studies are being designed to uncover the full genetic basis of common diseases. Nonetheless, the resulting loci are often insufficient to fully recover the observed heritability. Epistasis, or gene-gene interaction, is one of many hypotheses put forward to explain this missing heritability. In the present work, we propose epiGWAS, a new approach for epistasis detection that identifies interactions between a target SNP and the rest of the genome. This contrasts with the classical strategy of epistasis detection through exhaustive pairwise SNP testing. We draw inspiration from causal inference in randomized clinical trials, which allows us to take into account linkage disequilibrium. EpiGWAS encompasses several methods, which we compare to state-of-the-art techniques for epistasis detection on simulated and real data. The promising results demonstrate empirically the benefits of EpiGWAS to identify pairwise interactions.

Indexed as

Models, GeneticAlgorithmsEpistasis, GeneticGenome-Wide Association StudyHumansLinkage DisequilibriumPolymorphism, Single Nucleotide

Identifiers

PMID33253293
PMCPMC7703915

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Registered trials

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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.