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Record W4206349208 · doi:10.1038/s41588-021-00969-x

Genetic variation influencing DNA methylation provides insights into molecular mechanisms regulating genomic function

2022· article· en· W4206349208 on OpenAlexaff
Johann S. Hawe, Rory Wilson, Katharina Schmid, Li Zhou, Lakshmi Narayanan Lakshmanan, Benjamin Lehne, Brigitte Kühnel, William R. Scott, Matthias Wielscher, Yik Weng Yew, Clemens Baumbach, Dominic Paul Lee, Eirini Marouli, Manon Bernard, Liliane Pfeiffer, Pamela R. Matías‐García, Matias Autio, Stéphane Bourgeois, Christian Herder, Ville Karhunen, Thomas Meitinger, Holger Prokisch, Wolfgang Rathmann, Michael Roden, Sylvain Sebért, Jean Shin, Konstantin Strauch, Weihua Zhang, Wilson Lek Wen Tan, Stefanie M. Hauck, Juliane Merl‐Pham, Harald Grallert, Eudes G. V. Barbosa, Kourosh R. Ahmadi, Chrysanthi Ainali, Amy Barrett, Véronique Bataille, Jordana T. Bell, Alfonso Buil, Emmanouil T. Dermitzakis, Antigone S. Dimas, Richard Durbin, Daniel Glass, Elin Grundberg, Neelam Hassanali, Åsa K. Hedman, Catherine Ingle, David A. Knowles, Maria Krestyaninova, Cecilia M. Lindgren, Christopher Lowe, Mark I. McCarthy, Eshwar Meduri, Paola Di Meglio, Josine L. Min, Stephen B. Montgomery, Frank O. Nestlé, Alexandra C. Nica, James Nisbet, Stephen O’Rahilly, Leopold Parts, Simon Potter, Johanna K. Sandling, Magdalena Sekowska, So–Youn Shin, Kerrin S. Small, Nicole Soranzo, Tim D. Spector, Gabriela Surdulescu, Mary E. Travers, Loukia Tsaprouni, Sophia Tsoka, Alicja Wilk, Tsun-Po Yang, Krina T. Zondervan, Thomas Illig, Annette Peters, Tomáš Paus, Zdenka Pausová, Panos Deloukas, Roger Foo, Marjo‐Riitta Järvelin, Jaspal S. Kooner, Marie Loh, Matthias Heinig, Christian Gieger, Mélanie Waldenberger, John C. Chambers

Bibliographic record

VenueNature Genetics · 2022
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicEpigenetics and DNA Methylation
Canadian institutionsUniversité de MontréalCentre Hospitalier Universitaire Sainte-JustineSickKids FoundationHospital for Sick ChildrenUniversity of Toronto
FundersNational Heart, Lung, and Blood InstituteNational Medical Research CouncilBiotechnology and Biological Sciences Research CouncilAgence Nationale de la RechercheNational Institute of Mental HealthMedical Research CouncilNational Institute for Health and Care ResearchBritish Heart FoundationWellcome Trust
KeywordsBiologyDNA methylationGeneticsEpigenomicsQuantitative trait locusCpG siteChromatin immunoprecipitationDifferentially methylated regionsChromatinPhenotypeGenome-wide association studyGeneSingle-nucleotide polymorphismGene expressionGenotypePromoter

Abstract

fetched live from OpenAlex
No abstract in any covered source. Its absence is recorded, not treated as a negative.

No abstract. This is not a gap in this database; OpenAlex has none either. 23.3% of the frame is in this state, and the screen finds HALF as much metaresearch here, so the absence is a measured bias rather than a missing field.

How this classification was reachedexpand

Full frame machine prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.001
Version: metacan-v3-hybrid-931329e0061cValidation 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 score0.002
Threshold uncertainty score0.005

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.001
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0010.001
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.001
Insufficient payload (model declined to judge)0.0020.000

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 head0.005
GPT teacher head0.226
Teacher spread0.221 · 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 source (direct Gemma or distilled Codex), 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

Citations172
Published2022
Admission routes1
Has abstractno

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