Evidence map›Paper›PMID 30239597›Full record

ReviewBriefings in bioinformatics2019

An evaluation of supervised methods for identifying differentially methylated regions in Illumina methylation arrays.

Saurav Mallik, Gabriel J Odom, Zhen Gao, Lissette Gomez, Xi Chen, Lily Wang

Abstract readReview
In one paragraph

Review in Briefings in bioinformatics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 72 papers, 7 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
72citing papers in PubMed, 7 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

72 citing papers in PubMed, 7 syntheses or guidelines pooled it.

  1. Pooled it
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  7. Pooled it
  8. Epigenetic markers of response to psychotherapy in obsessive-compulsive disorder.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2026
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  17. Blood DNA methylation signature for incident dementia: Evidence from longitudinal cohorts.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025
    Article
  18. Hypermethylation ofJournal of the American Heart Association · 2025
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  19. Article
  20. Article

12 more citing papers are in PubMed but not listed here.

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

6 authors.

Saurav MallikDivision of Biostatistics, Department of Public Health Sciences, University of Miami, Miller School of Medicine, Miami, FL, USA.
Gabriel J OdomDivision of Biostatistics, Department of Public Health Sciences, University of Miami, Miller School of Medicine, Miami, FL, USA.
Zhen GaoSylvester Comprehensive Cancer Center, University of Miami Miller School of Medicine, Miami, FL, USA.
Lissette GomezDr. John T. Macdonald Foundation, Department of Human Genetics, and John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL, USA.
Xi ChenDivision of Biostatistics, Department of Public Health Sciences, University of Miami, Miller School of Medicine, Miami, FL, USA.
Lily WangDivision of Biostatistics, Department of Public Health Sciences, University of Miami, Miller School of Medicine, Miami, FL, USA.

Funding

iPGDAC, An Integrative Proteogenomic Data Analysis Center for CPTACU24CA210954 · NCI · BAYLOR COLLEGE OF MEDICINE · PI ZHANG, BING · 2016 to 2020
$4.9M
Integrative prediction models for metastasis risk in colon cancerR01CA158472 · NCI · VANDERBILT UNIVERSITY · PI BEAUCHAMP, ROBERT DANIEL, CHEN, XI STEVEN · 2012 to 2016
$2.3M
Integrative statistical models for TNBC biomarker discoveryR01CA200987 · NCI · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI CHEN, XI STEVEN · 2016 to 2020
$1.8M
6 · The paper itself

Abstract

Epigenome-wide association studies (EWASs) have become increasingly popular for studying DNA methylation (DNAm) variations in complex diseases. The Illumina methylation arrays provide an economical, high-throughput and comprehensive platform for measuring methylation status in EWASs. A number of software tools have been developed for identifying disease-associated differentially methylated regions (DMRs) in the epigenome. However, in practice, we found these tools typically had multiple parameter settings that needed to be specified and the performance of the software tools under different parameters was often unclear. To help users better understand and choose optimal parameter settings when using DNAm analysis tools, we conducted a comprehensive evaluation of 4 popular DMR analysis tools under 60 different parameter settings. In addition to evaluating power, precision, area under precision-recall curve, Matthews correlation coefficient, F1 score and type I error rate, we also compared several additional characteristics of the analysis results, including the size of the DMRs, overlap between the methods and execution time. The results showed that none of the software tools performed best under their default parameter settings, and power varied widely when parameters were changed. Overall, the precision of these software tools were good. In contrast, all methods lacked power when effect size was consistent but small. Across all simulation scenarios, comb-p consistently had the best sensitivity as well as good control of false-positive rate.

Indexed as

DNA MethylationCpG IslandsHumansProtein Processing, Post-TranslationalSoftwareDMR identificationDNA methylationepigenome-wide association studiessoftware comparison

Identifiers

PMID30239597
PMCPMC6954393

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.