Evidence map›Paper›PMID 24817878›Full record

ReviewFrontiers in genetics2014

Analysis pipeline for the epistasis search - statistical versus biological filtering.

Xiangqing Sun, Qing Lu, Shubhabrata Mukherjee, Shubhabrata Mukheerjee, Paul K Crane, Robert Elston, Marylyn D Ritchie

Erratum issuedAbstract readReview
In one paragraph

Review in Frontiers in genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 36 papers.

0numbers the graph read from it
0cells of the map it votes in
36citing 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

36 citing papers in PubMed.

  1. Article
  2. Interactions with polygenic background impact quantitative traits in the UK Biobank.medRxiv : the preprint server for health sciences · 2025
    Article
  3. Article
  4. Article
  5. Review
  6. Article
  7. Article
  8. Article
  9. Article
  10. Using C-JAMP to Investigate Epistasis and Pleiotropy.Methods in molecular biology (Clifton, N.J.) · 2021
    Article
  11. Article
  12. Article
  13. Article
  14. Review
  15. Article
  16. Review
  17. Article
  18. Article
  19. Article
  20. Article
4 · The record

Corrections and comments

  • Erratum issued
    Mukheerjee, Shubhabrata [corrected to Mukherjee, Shubhabrata]
5 · Who and what money

Authors and funding

7 authors.

Xiangqing SunDepartment of Epidemiology and Biostatistics, Case Western Reserve University Cleveland, OH, USA.
Qing LuDepartment of Epidemiology and Biostatistics, Michigan State University East Lansing, MI, USA.
Shubhabrata MukherjeeDepartment of Medicine, University of Washington Seattle, WA, USA.
Shubhabrata Mukheerjee
Paul K CraneDepartment of Medicine, University of Washington Seattle, WA, USA.
Robert ElstonDepartment of Epidemiology and Biostatistics, Case Western Reserve University Cleveland, OH, USA.
Marylyn D RitchieDepartment of Biochemistry and Molecular Biology, The Pennsylvania State University, University Park PA, USA.

Funding

PHARMACOGENOMICS OF ARRHYTHMIA THERAPYU01HL065962 · NHLBI · VANDERBILT UNIVERSITY · PI RODEN, DAN M · 2001 to 2009
$24.8M
Pharmacogenomics of Arrhythmia TherapyU19HL065962 · NHLBI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI RODEN, DAN M · 2010 to 2014
$17.4M
Geisinger eGenonic Medicine (GeM) ProgramU01HG006382 · NHGRI · GEISINGER CLINIC · PI CAREY, DAVID J., WILLIAMS, MARC S. · 2011 to 2014
$4.3M
IRIS: Incorporating Research Into SightU01HG006389 · NHGRI · ESSENTIA INSTITUTE OF RURAL HEALTH · PI MCCARTY, CATHERINE ANNE · 2011 to 2014
$4.1M
Genetic Discovery and Application in a Clinical Setting Continuing a PartnershipU01HG006375 · NHGRI · KAISER FOUNDATION HEALTH PLAN OF WASHINGTON · PI JARVIK, GAIL PAIRITZ, LARSON, ERIC B · 2011 to 2014
$4.1M
Gene-Gene/Gene-Environment Interactions Associated with Nicotine DependenceK01DA033346 · NIDA · MICHIGAN STATE UNIVERSITY · PI LU, QING · 2013 to 2017
$833k
Role of Mitochondrial CYP2E1 in Chemical Exposure-Driven NeurodegenerationF32ES027306 · NIEHS · DUKE UNIVERSITY · PI HARTMAN, JESSICA HELENE · 2016 to 2018
$171k
NHGRI NIH HHS U01 HG006375NHGRI NIH HHS U01 HG006382NHGRI NIH HHS U01 HG006389NHLBI NIH HHS U01 HL065962NHLBI NIH HHS U19 HL065962NIDA NIH HHS K01 DA033346NIEHS NIH HHS 27306C0004
6 · The paper itself

Abstract

Gene-gene interactions may contribute to the genetic variation underlying complex traits but have not always been taken fully into account. Statistical analyses that consider gene-gene interaction may increase the power of detecting associations, especially for low-marginal-effect markers, and may explain in part the "missing heritability." Detecting pair-wise and higher-order interactions genome-wide requires enormous computational power. Filtering pipelines increase the computational speed by limiting the number of tests performed. We summarize existing filtering approaches to detect epistasis, after distinguishing the purposes that lead us to search for epistasis. Statistical filtering includes quality control on the basis of single marker statistics to avoid the analysis of bad and least informative data, and limits the search space for finding interactions. Biological filtering includes targeting specific pathways, integrating various databases based on known biological and metabolic pathways, gene function ontology and protein-protein interactions. It is increasingly possible to target single-nucleotide polymorphisms that have defined functions on gene expression, though not belonging to protein-coding genes. Filtering can improve the power of an interaction association study, but also increases the chance of missing important findings.

Indexed as

biological interactionepistasisfiltering pipelinegenetic interactionoptimal search

Identifiers

PMID24817878
PMCPMC4012196

What OpenQuestion holds

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LicenceCC BY
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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.