Evidence map›Paper›PMID 20977438›Full record

ArticleAnnals of human genetics2011

You've gotta be lucky: Coverage and the elusive gene-gene interaction.

Matthew Reimherr, Dan L Nicolae

Abstract read
In one paragraph

Article in Annals of human genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed, 1 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

6 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Article
  3. Article
  4. Sampling strategies for rare variant tests in case-control studies.European journal of human genetics : EJHG · 2012
    Article
  5. Article
  6. Article
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.

Matthew ReimherrDepartment of Statistics, The University of Chicago, IL 60637, USA.
Dan L Nicolae

Funding

The EVE Asthma Genetics Consortium: Building Upon GWASRC2HL101651 · NHLBI · UNIVERSITY OF CHICAGO · PI NICOLAE, DAN LIVIU, OBER, CAROLE · 2009 to 2010
$7.4M
Genome-wide Association Mapping of Metabolic, Lung and Cardiovascular PhenotypesU01HL084715 · NHLBI · UNIVERSITY OF CHICAGO · PI COX, NANCY J · 2006 to 2008
$836k
NHLBI NIH HHS 1RC2-HL101651NHLBI NIH HHS RC2 HL101651NHLBI NIH HHS U01 HL084715NHLBI NIH HHS U01-HL084715
6 · The paper itself

Abstract

Genome-wide association studies (GWAS) have led to a large number of single-SNP association findings, but there has been, so far, no investigation resulting in the discovery of a replicable gene-gene interaction. In this paper, we examine some of the possible explanations for the lack of findings, and argue that coverage of causal variation not only has a large effect on the loss in power, but that the effect is larger than in the single-SNP analyses. We show that the product of linkage disequilibrium measures, r², between causal and tested SNPs offers a good approximation to the loss in efficiency as defined by the ratio of sample sizes that lead to similar power. We also demonstrate that, in addition to the huge search space, the loss in power due to coverage when using commercially available platforms makes the search for gene-gene interactions daunting.

Indexed as

Epistasis, GeneticGenome-Wide Association StudyPolymorphism, Single NucleotideDiseaseHumans

Identifiers

PMID20977438
PMCPMC3005128

What OpenQuestion holds

Textmetadata
LicenceTDM
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.