A Statistical Framework for Co-Mediators of Zero-Inflated Single-Cell RNA-Seq Data

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Main Authors: Ahn, Seungjun, Chen, Li, van Gerwen, Maaike, Roussos, Panos, Li, Zhigang
Format: Preprint
Published: 2025
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author Ahn, Seungjun
Chen, Li
van Gerwen, Maaike
Roussos, Panos
Li, Zhigang
author_facet Ahn, Seungjun
Chen, Li
van Gerwen, Maaike
Roussos, Panos
Li, Zhigang
contents Single-cell RNA sequencing (scRNA-seq) has revolutionized the study of cellular heterogeneity, enabling detailed molecular profiling at the individual cell level. However, integrating high-dimensional single-cell data into causal mediation analysis remains challenging due to zero inflation and complex mediator structures. We propose a novel mediation framework leveraging zero-inflated negative binomial models to characterize cell-level mediator distributions and beta regression for zero-inflation proportions. The model can identify expression level as well as expressed proportion that could mediate disease-leading causal pathway. Extensive simulation studies demonstrate improved power and controlled false discovery rates. We further illustrate the utility of this approach through application to ROSMAP single-cell transcriptomic data, uncovering biologically meaningful mediation effects that enhance understanding of disease mechanisms.
format Preprint
id arxiv_https___arxiv_org_abs_2507_06113
institution arXiv
publishDate 2025
record_format arxiv
spellingShingle A Statistical Framework for Co-Mediators of Zero-Inflated Single-Cell RNA-Seq Data
Ahn, Seungjun
Chen, Li
van Gerwen, Maaike
Roussos, Panos
Li, Zhigang
Methodology
Genomics
Quantitative Methods
Applications
Single-cell RNA sequencing (scRNA-seq) has revolutionized the study of cellular heterogeneity, enabling detailed molecular profiling at the individual cell level. However, integrating high-dimensional single-cell data into causal mediation analysis remains challenging due to zero inflation and complex mediator structures. We propose a novel mediation framework leveraging zero-inflated negative binomial models to characterize cell-level mediator distributions and beta regression for zero-inflation proportions. The model can identify expression level as well as expressed proportion that could mediate disease-leading causal pathway. Extensive simulation studies demonstrate improved power and controlled false discovery rates. We further illustrate the utility of this approach through application to ROSMAP single-cell transcriptomic data, uncovering biologically meaningful mediation effects that enhance understanding of disease mechanisms.
title A Statistical Framework for Co-Mediators of Zero-Inflated Single-Cell RNA-Seq Data
topic Methodology
Genomics
Quantitative Methods
Applications
url https://arxiv.org/abs/2507.06113