Evidence map›Paper›PMID 35972065›Full record

ArticleMolecular systems biology2022

CellRegMap: a statistical framework for mapping context-specific regulatory variants using scRNA-seq.

Anna S E Cuomo, Tobias Heinen, Danai Vagiaki, Danilo Horta, John C Marioni, Oliver Stegle

Abstract read
In one paragraph

Article in Molecular systems biology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers.

0numbers the graph read from it
0cells of the map it votes in
37citing 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

37 citing papers in PubMed.

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  7. Multi-omics Data Integration.Advances in experimental medicine and biology · 2026
    Review
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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

6 authors.

Anna S E Cuomo *European Bioinformatics Institute (EMBL-EBI), Cambridge, UK.ORCID 0000-0001-5168-6979
Tobias Heinen *Division of Computational Genomics and Systems Genetics, German Cancer Research Centre (DKFZ), Heidelberg, Germany.
Danai VagiakiDivision of Computational Genomics and Systems Genetics, German Cancer Research Centre (DKFZ), Heidelberg, Germany.
Danilo HortaEuropean Bioinformatics Institute (EMBL-EBI), Cambridge, UK.
John C MarioniEuropean Bioinformatics Institute (EMBL-EBI), Cambridge, UK.
Oliver StegleEuropean Bioinformatics Institute (EMBL-EBI), Cambridge, UK.ORCID 0000-0002-8818-7193

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Single-cell RNA sequencing (scRNA-seq) enables characterizing the cellular heterogeneity in human tissues. Recent technological advances have enabled the first population-scale scRNA-seq studies in hundreds of individuals, allowing to assay genetic effects with single-cell resolution. However, existing strategies to analyze these data remain based on principles established for the genetic analysis of bulk RNA-seq. In particular, current methods depend on a priori definitions of discrete cell types, and hence cannot assess allelic effects across subtle cell types and cell states. To address this, we propose the Cell Regulatory Map (CellRegMap), a statistical framework to test for and quantify genetic effects on gene expression in individual cells. CellRegMap provides a principled approach to identify and characterize genotype-context interactions of known eQTL variants using scRNA-seq data. This model-based approach resolves allelic effects across cellular contexts of different granularity, including genetic effects specific to cell subtypes and continuous cell transitions. We validate CellRegMap using simulated data and apply it to previously identified eQTL from two recent studies of differentiating iPSCs, where we uncover hundreds of eQTL displaying heterogeneity of genetic effects across cellular contexts. Finally, we identify fine-grained genetic regulation in neuronal subtypes for eQTL that are colocalized with human disease variants.

Indexed as

Gene Expression RegulationSingle-Cell AnalysisGene Expression ProfilingHumansRNA-SeqSequence Analysis, RNAcell-type specificityeQTLgenetic interactionsingle-cell sequencing

Identifiers

PMID35972065
PMCPMC9380406

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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.