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Record W4412157176 · doi:10.26508/lsa.202403155

Accounting for differences between Infinium MethylationEPIC v2 and v1 in DNA methylation–based tools

2025· article· en· W4412157176 on OpenAlexafffund
Beryl C Zhuang, Marcia Smiti Jude, Chaini Konwar, Natan Yusupov, Calen P. Ryan, Hannah-Ruth Engelbrecht, Joanne Whitehead, Alexandra A. Halberstam, Julia L. MacIsaac, Kristy Dever, Trần Khánh Toàn, Kim Korinek, Zachary Zimmer, Sang Lee, Thomas W. McDade, Christopher W. Kuzawa, Kim M. Huffman, Daniel W. Belsky, Elisabeth B. Binder, Darina Czamara, Keegan Korthauer, Michael S. Kobor

Bibliographic record

VenueLife Science Alliance · 2025
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicEpigenetics and DNA Methylation
Canadian institutionsCanadian Institute for Advanced ResearchMichael Smith Health Research BCBC Children's HospitalMount Saint Vincent UniversityInstitute of AgingCentre for Advancing Health OutcomesUniversity of British Columbia
FundersNational Institute on AgingCanadian Institutes of Health ResearchNational Institutes of HealthBC Children's HospitalNational Institute of General Medical SciencesCanadian Institute for Advanced ResearchDartmouth CollegeAlexander von Humboldt-Stiftung
KeywordsDNA methylationBusinessEnvironmental scienceAccountingBiologyGeneticsGene

Abstract

fetched live from OpenAlex

The recently launched Illumina Infinium MethylationEPIC v2.0 (EPICv2), successor of MethylationEPIC v1.0 (EPICv1), retains most of the probes in EPICv1, while expanding coverage of regulatory elements. The concordance between the two EPIC versions in DNA methylation-based tools has not yet been investigated. To address this, DNA methylation was profiled on both versions using matched blood samples across four cohorts spanning early to late adulthood. High concordance between versions at the array level but variable agreement at the individual probe level was noted. A significant contribution of the EPIC version to DNA methylation variation was observed, though it was to a smaller extent compared with sample relatedness and cell-type composition. Modest but significant differences in DNA methylation-based estimates between versions were observed, irrespective of the data preprocessing method used. Adjustments for EPIC version or calculation of estimates separately for each version largely mitigated these version-specific discordances. This work emphasizes the importance of accounting for EPIC version differences in research scenarios, especially in meta-analyses and longitudinal studies that require data harmonization across versions.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame distilled prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.

metaresearch head score (Codex)0.001
metaresearch head score (Gemma)0.001
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.221
Threshold uncertainty score0.466

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0010.001
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.001
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0000.000

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.036
GPT teacher head0.323
Teacher spread0.287 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one teacher head, not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designObservational
Domainnot available
GenreEmpirical

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations7
Published2025
Admission routes2
Has abstractyes

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