Evidence map›Paper›PMID 41417871›Full record

ArticlePLoS computational biology2025

ASPEN: Robust detection of allelic dynamics in single cell RNA-seq.

Veronika Petrova, Muqing Niu, Thomas S Vierbuchen, Emily S Wong

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Article in PLoS computational biology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

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0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

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2 · The registry

The trial behind it

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3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

4 authors.

Veronika PetrovaDivision of Molecular, Structural, and Computational Biology, Victor Chang Cardiac Research Institute, Darlinghurst, Australia.
Muqing NiuDivision of Molecular, Structural, and Computational Biology, Victor Chang Cardiac Research Institute, Darlinghurst, Australia.
Thomas S VierbuchenDevelopmental Biology Program, Sloan Kettering Institute for Cancer Research, New York, New York, United States of America.
Emily S WongDivision of Molecular, Structural, and Computational Biology, Victor Chang Cardiac Research Institute, Darlinghurst, Australia.ORCID 0000-0003-0315-2942

Funding

X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI SELWYN M VICKERS · 1985 to 2026
$347.4M
Chemical Genetic Dissection of SWI/SNF Chromatin Remodeling Complex Functions in Cerebral Cortex DevelopmentR01NS126921 · NINDS · SLOAN-KETTERING INST CAN RESEARCH · PI LORENZ P. STUDER · 2023 to 2026
$2.1M
NCI NIH HHS P30 CA008748NINDS NIH HHS R01 NS126921
6 · The paper itself

Abstract

Single-cell RNA-seq data from F1 hybrids provide a unique framework for dissecting complex regulatory mechanisms, but allelic measurements are limited by technical noise due to low counts. Here, we present ASPEN, a statistical method for modeling allelic mean and variance in single-cell transcriptomic data. ASPEN combines a sensitive mapping pipeline  with a moderated beta-binomial model and adaptive shrinkage to distinguish allelic imbalance and changes to allelic variance in single cells. In both simulated and empirical datasets, ASPEN achieves a ~30% increase in sensitivity over existing approaches for single-cell allelic imbalance detection. Applied to mouse brain organoids and T cells, ASPEN identifies genes with incomplete X inactivation, random monoallelic expression, and significant deviations in allelic variance. These results reveal reduced variance in essential genes, consistent with tight regulatory control, and increased variance at neurodevelopmental and immune loci, indicative of regulatory flexibility.

Indexed as

Allelic ImbalanceRNA-SeqSequence Analysis, RNASingle-Cell AnalysisAllelesAnimalsBrainComputational BiologyGene Expression ProfilingMiceTranscriptome

Identifiers

PMID41417871
PMCPMC12774380

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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.