Evidence map›Paper›PMID 26839594›Full record

ArticleBioData mining2016

r2VIM: A new variable selection method for random forests in genome-wide association studies.

Silke Szymczak, Emily Holzinger, Abhijit Dasgupta, James D Malley, Anne M Molloy, James L Mills, Lawrence C Brody, Dwight Stambolian, Joan E Bailey-Wilson

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 28 papers.

0numbers the graph read from it
0cells of the map it votes in
28citing 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

28 citing papers in PubMed.

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  13. Microorganisms · 2021
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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

9 authors.

Silke SzymczakStatistical Genetics Section, Inherited Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, 333 Cassell Dr, 21224 Baltimore, USA ; Current address: Institute of Medical Informatics and Statistics, University of Kiel, Brunswiker Str. 10, 24105 Kiel, Germany.
Emily HolzingerStatistical Genetics Section, Inherited Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, 333 Cassell Dr, 21224 Baltimore, USA.
Abhijit DasguptaClinical Trials and Outcomes Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, 1 AMS Circle, 20892 Bethesda, USA.
James D MalleyDivision of Computational Bioscience, Center for Information Technology, National Institutes of Health, 12 South Dr, 20892 Bethesda, USA.
Anne M MolloyDepartment of Clinical Medicine, School of Medicine, Trinity College Dublin, 152-160 Pearse Street, 2 Dublin, Ireland.
James L MillsDivision of Intramural Population Health Research, Eunice Shriver National Institute of Child Health and Human Development, National Institutes of Health, 6100 Executive Blvd, 20892 Bethesda, USA.
Lawrence C BrodyMolecular Pathogenesis Section, Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 50 South Dr, 20892 Bethesda, USA.
Dwight StambolianDepartment of Ophthalmology, University of Pennsylvania, 422 Curie Blvd, 19104 Philadelphia, USA.
Joan E Bailey-WilsonStatistical Genetics Section, Inherited Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, 333 Cassell Dr, 21224 Baltimore, USA.

Funding

Scientific TransparencyP30EY001583 · NEI · UNIVERSITY OF PENNSYLVANIA · PI Geoffrey Karl Aguirre · 1985 to 2026
$19.5M
The contribution folate and vitamin B12 genes to disease.ZIAHG000167 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI BRODY, LAWRENCE C · 2009 to 2025
$17.6M
Development of statistical genetics methodologyZIAHG000153 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI BAILEY-WILSON, JOAN ELLEN · 2009 to 2022
$5.0M
Genetic Epidemiology of Refractive ErrorR01EY020483 · NEI · UNIVERSITY OF PENNSYLVANIA · PI STAMBOLIAN, DWIGHT EDWARD · 2010 to 2014
$2.9M
NICHD Health Research Board Of Ireland Neural Tube Defects StudyZIAHD002502 · NICHD · EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT · PI MILLS, JAMES · 2009 to 2022
$2.9M
Statistical Learning for Biomedical DataZIACT000271 · CIT · CENTER FOR INFORMATION TECHNOLOGY · PI MALLEY, JAMES D · 2009 to 2017
$1.2M
FOLATE AND NEURAL TUBE DEFECTS-275033348N01HD033348 · NICHD · THE HEALTH RESEARCH BOARD · 2003 to 2004
–
NEI NIH HHS P30 EY001583NEI NIH HHS R01 EY020483NICHD NIH HHS N01 HD033348
6 · The paper itself

Abstract

backgroundMachine learning methods and in particular random forests (RFs) are a promising alternative to standard single SNP analyses in genome-wide association studies (GWAS). RFs provide variable importance measures (VIMs) to rank SNPs according to their predictive power. However, in contrast to the established genome-wide significance threshold, no clear criteria exist to determine how many SNPs should be selected for downstream analyses.

resultsWe propose a new variable selection approach, recurrent relative variable importance measure (r2VIM). Importance values are calculated relative to an observed minimal importance score for several runs of RF and only SNPs with large relative VIMs in all of the runs are selected as important. Evaluations on simulated GWAS data show that the new method controls the number of false-positives under the null hypothesis. Under a simple alternative hypothesis with several independent main effects it is only slightly less powerful than logistic regression. In an experimental GWAS data set, the same strong signal is identified while the approach selects none of the SNPs in an underpowered GWAS.

conclusionsThe novel variable selection method r2VIM is a promising extension to standard RF for objectively selecting relevant SNPs in GWAS while controlling the number of false-positive results.

Indexed as

GeneticGenome-wide association studyMachine learningRandom forestSNPVariable importanceVariable selection

Identifiers

PMID26839594
PMCPMC4736152

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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.