Evidence map›Paper›PMID 27053949›Full record

ArticleBioData mining2016

Detecting gene-gene interactions using a permutation-based random forest method.

Jing Li, James D Malley, Angeline S Andrew, Margaret R Karagas, Jason H Moore

Abstract read
In one paragraph

Article in BioData mining, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.

0numbers the graph read from it
0cells of the map it votes in
33citing 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

33 citing papers in PubMed.

  1. Genetic analysis of neurodegenerative diseases.The Journal of clinical investigation · 2026
    Review
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  17. Brief Survey on Machine Learning in Epistasis.Methods in molecular biology (Clifton, N.J.) · 2021
    Review
  18. Article
  19. Article
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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

5 authors.

Jing LiDepartment of Genetics, Geisel School of Medicine, Dartmouth College, Hanover, NH USA.
James D MalleyDivision of Computational Bioscience, Center for Information Technology, National Institutes of Health, Bethesda, MD USA.
Angeline S AndrewDepartment of Epidemiology, Geisel School of Medicine, Dartmouth College, Hanover, NH USA.
Margaret R KaragasDepartment of Epidemiology, Geisel School of Medicine, Dartmouth College, Hanover, NH USA.
Jason H MooreInstitute for Biomedical Informatics, University of Pennsylvania, Pennsylvania, PA USA ; Department of Biostatistics and Epidemiology, The Perelman School of Medicine, University of Pennsylvania, Pennsylvania, PA USA.

Funding

Ultrastructural analysis of axonal Kv2-mediated endoplasmic reticulum/plasma membrane (ER/PM) junctionsP20GM103506 · NIGMS · DARTMOUTH COLLEGE · PI STEVEN FIERING · 2012 to 2026
$60.1M
Translational Research Support CoreP30ES013508 · NIEHS · UNIVERSITY OF PENNSYLVANIA · PI Rebecca A Simmons · 2006 to 2026
$35.3M
NONMELANOMA SKIN CANCER IN NEW HAMPSHIRER01CA057494 · NCI · DARTMOUTH COLLEGE · PI KARAGAS, MARGARET RITA · 1993 to 2015
$10.9M
Quantitative Biology Research InstituteP20GM103534 · NIGMS · DARTMOUTH COLLEGE · PI AMOS, CHRISTOPHER I. · 2012 to 2016
$8.6M
Bioinformatics Strategies for Genome-Wide Association StudiesR01LM010098 · NLM · UNIVERSITY OF PENNSYLVANIA · PI MOORE, JASON H., WILLIAMS, SCOTT MATTHEW · 2009 to 2023
$5.1M
Machine Learning Prediction of Cancer SusceptibilityR01LM009012 · NLM · UNIVERSITY OF PENNSYLVANIA · PI MOORE, JASON H. · 2006 to 2014
$3.3M
Bioinformatics Strategies for Multidimensional Brain Imaging GeneticsR01LM011360 · NLM · INDIANA UNIVERSITY INDIANAPOLIS · PI MOORE, JASON H., SAYKIN, ANDREW J · 2012 to 2015
$1.4M
Statistical Learning for Biomedical DataZIACT000271 · CIT · CENTER FOR INFORMATION TECHNOLOGY · PI MALLEY, JAMES D · 2009 to 2017
$1.2M
Bioinformatics Approaches to Visual Disease GeneticsR01EY022300 · NEI · UNIVERSITY OF PENNSYLVANIA · PI MOORE, JASON H. · 2012 to 2014
$947k
MicroRNA dysregulation and bladder cancer prognosisR21CA182659 · NCI · DARTMOUTH COLLEGE · PI ANDREW, ANGELINE SANDERSON · 2014 to 2015
$388k
NCI NIH HHS R01 CA057494NCI NIH HHS R21 CA182659NEI NIH HHS R01 EY022300NIEHS NIH HHS P30 ES013508NIGMS NIH HHS P20 GM103506NIGMS NIH HHS P20 GM103534NLM NIH HHS R01 LM009012NLM NIH HHS R01 LM010098NLM NIH HHS R01 LM011360
6 · The paper itself

Abstract

backgroundIdentifying gene-gene interactions is essential to understand disease susceptibility and to detect genetic architectures underlying complex diseases. Here, we aimed at developing a permutation-based methodology relying on a machine learning method, random forest (RF), to detect gene-gene interactions. Our approach called permuted random forest (pRF) which identified the top interacting single nucleotide polymorphism (SNP) pairs by estimating how much the power of a random forest classification model is influenced by removing pairwise interactions.

resultsWe systematically tested our approach on a simulation study with datasets possessing various genetic constraints including heritability, number of SNPs, sample size, etc. Our methodology showed high success rates for detecting the interaction SNP pair. We also applied our approach to two bladder cancer datasets, which showed consistent results with well-studied methodologies, such as multifactor dimensionality reduction (MDR) and statistical epistasis network (SEN). Furthermore, we built permuted random forest networks (PRFN), in which we used nodes to represent SNPs and edges to indicate interactions.

conclusionsWe successfully developed a scale-invariant methodology to detect pure gene-gene interactions based on permutation strategies and the machine learning method random forest. This methodology showed great potential to be used for detecting gene-gene interactions to study underlying genetic architectures in a scale-free way, which could be benefit to uncover the complex disease mechanisms.

Indexed as

GWASMachine learningRandom forestScale invariant

Identifiers

PMID27053949
PMCPMC4822295

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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.