Evidence map›Paper›PMID 37813843›Full record

ArticleNature communications2023

Single-cell allele-specific expression analysis reveals dynamic and cell-type-specific regulatory effects.

Guanghao Qi, Benjamin J Strober, Joshua M Popp, Rebecca Keener, Hongkai Ji, Alexis Battle

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 20 papers.

0numbers the graph read from it
0cells of the map it votes in
20citing papers in PubMed
3.1field-weighted citation impact, top 8% 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

20 citing papers in PubMed, 22 citations in OpenAlex.

  1. Allele-specific expression in the brain links genetic risk and cortical thinning in psychiatric disorders.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2026
    Article
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  6. Review
  7. Article
  8. Article
  9. Review
  10. Article
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  12. ASPEN: Robust detection of allelic dynamics in single cell RNA-seq.bioRxiv : the preprint server for biology · 2025
    Article
  13. Article
  14. Article
  15. Review
  16. Review
  17. Review
  18. Article
  19. Single-cell genomics meets human genetics.Nature reviews. Genetics · 2023
    Review
  20. 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 1 country.

Guanghao QiDepartment of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, 21218, USA.ORCID 0000-0002-8085-4748
Benjamin J StroberDepartment of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA, 02115, USA.ORCID 0000-0003-2969-2808
Joshua M PoppDepartment of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, 21218, USA.
Rebecca KeenerDepartment of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, 21218, USA.ORCID 0000-0001-9031-6866
Hongkai JiDepartment of Biostatistics, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, 21205, USA.ORCID 0000-0002-6480-0141
Alexis BattleDepartment of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, 21218, USA. ajbattle@jhu.edu.ORCID 0000-0002-5287-627X
Johns Hopkins University · USHarvard University · US

Funding

Modeling the dynamicimpact of rare and common genetic variation on gene expression anddiseaseR35GM139580 · NIGMS · JOHNS HOPKINS UNIVERSITY · PI BATTLE, ALEXIS · 2021 to 2025
$3.1M
Big Data Methods for Decoding Gene RegulationR01HG009518 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI JI, HONGKAI · 2018 to 2021
$1.7M
Computational tools for regulome mapping using single-cell genomic dataR01HG010889 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI JI, HONGKAI · 2019 to 2022
$1.6M
NHGRI NIH HHS R01 HG009518NHGRI NIH HHS R01 HG010889NIGMS NIH HHS R35 GM139580
6 · The paper itself

Abstract

Differential allele-specific expression (ASE) is a powerful tool to study context-specific cis-regulation of gene expression. Such effects can reflect the interaction between genetic or epigenetic factors and a measured context or condition. Single-cell RNA sequencing (scRNA-seq) allows the measurement of ASE at individual-cell resolution, but there is a lack of statistical methods to analyze such data. We present Differential Allelic Expression using Single-Cell data (DAESC), a powerful method for differential ASE analysis using scRNA-seq from multiple individuals, with statistical behavior confirmed through simulation. DAESC accounts for non-independence between cells from the same individual and incorporates implicit haplotype phasing. Application to data from 105 induced pluripotent stem cell (iPSC) lines identifies 657 genes dynamically regulated during endoderm differentiation, with enrichment for changes in chromatin state. Application to a type-2 diabetes dataset identifies several differentially regulated genes between patients and controls in pancreatic endocrine cells. DAESC is a powerful method for single-cell ASE analysis and can uncover novel insights on gene regulation.

Indexed as

Diabetes Mellitus, Type 2Gene Expression RegulationAllelesCell DifferentiationComputer SimulationGene Expression ProfilingHumansSequence Analysis, RNASingle-Cell Analysis

Identifiers

PMID37813843
PMCPMC10562474
OpenAlexW4387448737

What OpenQuestion holds

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LicenceCC BY
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Registered trials

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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.