Cited by 389Epigenetics and DNA MethylationGenetic Associations and EpidemiologyGene expression and cancer classification

A coherent approach for analysis of the Illumina HumanMethylation450 BeadChip improves data quality and performance in epigenome-wide association studies

Open access
Lehne, Benjamin, Drong, Alexander W, Loh, Marie, Zhang, Weihua, Scott, William R, Tan, Sian-Tsung, Afzal, Uzma, Scott, James +5 more·2015·Genome biology

Abstract

DNA methylation plays a fundamental role in the regulation of the genome, but the optimal strategy for analysis of genome-wide DNA methylation data remains to be determined. We developed a comprehensive analysis pipeline for epigenome-wide association studies (EWAS) using the Illumina Infinium HumanMethylation450 BeadChip, based on 2,687 individuals, with 36 samples measured in duplicate. We propose new approaches to quality control, data normalisation and batch correction through control-probe adjustment and establish a null hypothesis for EWAS using permutation testing. Our analysis pipeline outperforms existing approaches, enabling accurate identification of methylation quantitative trait loci for hypothesis driven follow-up experiments.

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

A few free checks a day · papers already verified open instantly · results are public

Integrity signals

Registry

Crossref · 10.1186/s13059-015-0600-x

Cites

30 of 30 references verified0 citation errors · 0 not checkable

Statistics

Claims the paper makes

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

A few free checks a day · papers already verified open instantly · results are public

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

Self-check

Percentages, sums and reported differences re-computed from the paper’s own numbers.

The self-check needs the paper’s full text.

Cites

Flagged first, then by citations

1 of the 31 references couldn’t be matched to a known paper.

Cited by

Sorted by citations

Authors
Lehne, B., Drong, A. W., Loh, M., Zhang, W., Scott, W. R., Tan, S.-T., Afzal, U., Scott, J., Jarvelin, M.-R., Elliott, P., McCarthy, M. I., Kooner, J. S., & Chambers, J. C.
Affiliations
  • Imperial College London (GB)
  • Centre for Human Genetics (GB)
  • Ealing Hospital NHS Trust (GB)
  • MRC Centre for Environment and Health (GB)
  • Imperial College Healthcare NHS Trust (GB)
Corresponding author
  • Lehne, Benjamin
  • Chambers, John C
Venue
Genome biology
Published
2015-02-15
Volume
16
Issue
1
Pages
37-37
ISSN
  • 1465-6906 (ISSN-L)
  • 1474-760X
OpenAlex
W4297674379
Cited by
380
References
31
Citations by year
2026: 22 · 2025: 40 · 2024: 42 · 2023: 43 · 2022: 43 · 2021: 54 · 2020: 43 · 2019: 36 · 2018: 26 · 2017: 16 · 2016: 12 · 2015: 2
FWCI
8.11
Type
journal article
Language
en
Open access
Locations
  • Genome biology (publishedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • Research Portal (King's College London) (submittedVersion, cc-by)
  • Spiral (Imperial College London) (submittedVersion, other-oa)
  • Spiral (Imperial College London) (submittedVersion, cc-by-nc-nd)
  • STM:n Hallinnonalan avoin julkaisuarkisto (Julkari) (submittedVersion)
Funders
  • Wellcome Trust (10371, 084723/Z/08/Z, 090532, 090532/Z/09/Z, 090532/Z/09/)
  • National Institute for Health Research Health Protection Research Unit
  • National Institute for Health and Care Research (NF-SI-0611-10136, RP-PG-0407-10371)
  • British Heart Foundation (090532/Z/09/Z, SP/04/002)
  • Imperial College London
  • Imperial College Healthcare NHS Trust
  • European Commission (279143)
  • MRC-PHE Centre for Environment and Health
  • Medical Research Council (G0900747 91070, Hub grant G0900747 91070, MR/L01341X/1, MR/K002414/1, G0601966, G0700931)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Epigenetics and DNA Methylation
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Gene expression and cancer classification
Keywords
DNA methylation, epigenome-wide association study, data quality control, data normalization, batch effect correction, permutation tests, null hypothesis, methylation quantitative trait loci, data analysis pipeline
MeSH terms
Humans, Software, Genome, Human, CpG Islands, DNA Methylation, Oligonucleotide Array Sequence Analysis, Quantitative Trait Loci, Epigenesis, Genetic, Genome-Wide Association Study, Epigenomics

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review