Evidence map›Paper›PMID 37550323›Full record

ArticleNature communications2023

Getting personal with epigenetics: towards individual-specific epigenomic imputation with machine learning.

Alex Hawkins-Hooker, Giovanni Visonà, Tanmayee Narendra, Mateo Rojas-Carulla, Bernhard Schölkopf, Gabriele Schweikert

Open access · goldAbstract read
In one paragraph

Article in Nature communications, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
2.2field-weighted citation impact, top 12% of its field
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

9 citing papers in PubMed, 15 citations in OpenAlex.

  1. Article
  2. Review
  3. Article
  4. GECSI: Large-scale chromatin state imputation from gene expression.bioRxiv : the preprint server for biology · 2025
    Article
  5. Review
  6. Review
  7. Hypomethylation of theInternational journal of molecular sciences · 2024
    Article
  8. Article
  9. Review
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 at 2 institutions in 2 countries.

Alex Hawkins-Hooker *School of Life Sciences, University of Dundee, Dow Street, Dundee, DD1 5EH, UK. alex.hawkins-hooker.20@ucl.ac.uk.
Giovanni Visonà *Empirical Inference Department, Max-Planck Institute for Intelligent Systems, Max-Planck-Ring 4, Tübingen, 72076, Germany.ORCID http://orcid.org/0000-0002-7878-5448
Tanmayee NarendraSchool of Life Sciences, University of Dundee, Dow Street, Dundee, DD1 5EH, UK.ORCID http://orcid.org/0000-0002-6371-1964
Mateo Rojas-CarullaEmpirical Inference Department, Max-Planck Institute for Intelligent Systems, Max-Planck-Ring 4, Tübingen, 72076, Germany.
Bernhard SchölkopfEmpirical Inference Department, Max-Planck Institute for Intelligent Systems, Max-Planck-Ring 4, Tübingen, 72076, Germany.
Gabriele SchweikertSchool of Life Sciences, University of Dundee, Dow Street, Dundee, DD1 5EH, UK. G.Schweikert@dundee.ac.uk.ORCID http://orcid.org/0000-0002-7813-7918
Max Planck Institute for Intelligent Systems · DEUniversity of Dundee · GB

Funding

Academy of Medical Sciences SBF004/1060Medical Research Council MR/T022620/1
6 · The paper itself

Abstract

Epigenetic modifications are dynamic mechanisms involved in the regulation of gene expression. Unlike the DNA sequence, epigenetic patterns vary not only between individuals, but also between different cell types within an individual. Environmental factors, somatic mutations and ageing contribute to epigenetic changes that may constitute early hallmarks or causal factors of disease. Epigenetic modifications are reversible and thus promising therapeutic targets for precision medicine. However, mapping efforts to determine an individual's cell-type-specific epigenome are constrained by experimental costs and tissue accessibility. To address these challenges, we developed eDICE, an attention-based deep learning model that is trained to impute missing epigenomic tracks by conditioning on observed tracks. Using a recently published set of epigenomes from four individual donors, we show that transfer learning across individuals allows eDICE to successfully predict individual-specific epigenetic variation even in tissues that are unmapped in a given donor. These results highlight the potential of machine learning-based imputation methods to advance personalized epigenomics.

Indexed as

Epigenesis, GeneticEpigenomicsDNA MethylationEpigenomeHumansMachine LearningPrecision Medicine

Identifiers

PMID37550323
PMCPMC10406842
OpenAlexW4385622934

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.