Evidence map›Paper›PMID 39550354›Full record

ArticleNature communications2024

Predicting cell type-specific epigenomic profiles accounting for distal genetic effects.

Alan E Murphy, William Beardall, Marek Rei, Mike Phuycharoen, Nathan G Skene

Abstract read
In one paragraph

Article in Nature communications, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed
–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

12 citing papers in PubMed.

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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

5 authors.

Alan E MurphyUK Dementia Research Institute at Imperial College London, London, W12 0BZ, UK. a.murphy@imperial.ac.uk.ORCID 0000-0002-2487-8753
William BeardallDepartment of Bioengineering, Imperial College London, London, SW7 2AZ, UK.
Marek ReiDepartment of Computing, Imperial College London, London, SW7 2RH, UK.
Mike PhuycharoenDivision of Informatics, Imaging & Data Sciences, University of Manchester, Manchester, M13 9PL, UK.
Nathan G SkeneUK Dementia Research Institute at Imperial College London, London, W12 0BZ, UK. n.skene@imperial.ac.uk.ORCID 0000-0002-6807-3180

Funding

Medical Research Council MR/T04327X/1
6 · The paper itself

Abstract

Understanding how genetic variants affect the epigenome is key to interpreting GWAS, yet profiling these effects across the non-coding genome remains challenging due to experimental scalability. This necessitates accurate computational models. Existing machine learning approaches, while progressively improving, are confined to the cell types they were trained on, limiting their applicability. Here, we introduce Enformer Celltyping, a deep learning model which incorporates distal effects of DNA interactions, up to 100,000 base-pairs away, to predict epigenetic signals in previously unseen cell types. Using DNA and chromatin accessibility data for epigenetic imputation, Enformer Celltyping outperforms current best-in-class approaches and generalises across cell types and biological regions. Moreover, we propose a framework for evaluating models on genetic variant effect prediction using regulatory quantitative trait loci mapping studies, highlighting current limitations in genomic deep learning models. Despite this, Enformer Celltyping can also be used to study cell type-specific genetic enrichment of complex traits.

Indexed as

Deep LearningEpigenomicsGenome-Wide Association StudyQuantitative Trait LociChromatinDNAEpigenesis, GeneticEpigenomeHumansModels, GeneticPolymorphism, Single NucleotideChromatinDNA

Identifiers

PMID39550354
PMCPMC11569248

What Socratic 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 Socratic graph.