Evidence map›Paper›PMID 28393142›Full record

ArticleApplications of Evolutionary Computation : 17th European Conference, EvoApplications 2014, Granada, Spain, April 23-25, 2014 : revised selected papers. EvoApplications (Conference) (17th : 2014 : Granada, Spain)2014

Genotype Correlation Analysis Reveals Pathway-Based Functional Disequilibrium and Potential Epistasis in the Human Interactome.

William S Bush, Jonathan L Haines

Open access · greenAbstract read
In one paragraph

Article in Applications of Evolutionary Computation : 17th European Conference, EvoApplications 2014, Granada, Spain, April 23-25, 2014 : revised selected papers. EvoApplications (Conference) (17th : 2014 : Granada, Spain), 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact, top 83% of its field
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

1 citing paper in PubMed, 2 citations in OpenAlex.

  1. Genes · 2022
    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 at 2 institutions in 1 country.

William S BushCenter for Human Genetics Research, Department of Biomedical Informatics, Vanderbilt University, Nashville, TN, USA.
Jonathan L HainesInstitute for Computational Biology, Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, OH, USA.
Case Western Reserve University · USVanderbilt University · US

Funding

A Haplotype Map for Multiple SclerosisR01NS049477 · NINDS · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI HAUSER, STEPHEN L · 2005 to 2014
$15.3M
Genetic Studies of Dementia in the AmishR01AG019085 · NIA · VANDERBILT UNIVERSITY · PI HAINES, JONATHAN L · 2001 to 2011
$11.0M
The Genetic Epemiology of Multiple SclerosisR01NS032830 · NINDS · VANDERBILT UNIVERSITY · PI HAINES, JONATHAN L · 1995 to 2010
$8.9M
Genomic Convergence in Alzheimer DiseaseR01AG027944 · NIA · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI PERICAK-VANCE, MARGARET A. · 2008 to 2012
$5.9M
NIA NIH HHS R01 AG019085NIA NIH HHS R01 AG027944NINDS NIH HHS R01 NS032830NINDS NIH HHS R01 NS049477
6 · The paper itself

Abstract

Epistasis is thought to be a pervasive part of complex phenotypes due to the dynamics and complexity of biological systems, and a further understanding of epistasis in the context of biological pathways may provide insight into the etiology of complex disease. In this study, we use genotype data from the International HapMap Project to characterize the functional dependencies between alleles in the human interactome as defined by KEGG pathways. We performed chi-square tests to identify non-independence between functionally-related SNP pairs within parental Caucasian and Yoruba samples. We further refine this list by testing for skewed transmission of pseudo-haplotypes to offspring using a haplotype-based TDT test. From these analyses, we identify pathways enriched for functional disequilibrium, and a set of 863 SNP pairs (representing 453 gene pairs) showing consistent non-independence and transmission distortion. These results represent gene pairs with strong evidence of epistasis within the context of a biological function.

Identifiers

PMID28393142
PMCPMC5382931
OpenAlexW2395186824

What OpenQuestion holds

Textmetadata
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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.