CoCoA-diff: counterfactual inference for single-cell gene expression analysis.
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IF: 17.906
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Cited by: 4
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Abstract

Finding a causal gene is a fundamental problem in genomic medicine. We present a causal inference framework, CoCoA-diff, that prioritizes disease genes by adjusting confounders without prior knowledge of control variables in single-cell RNA-seq data. We demonstrate that our method substantially improves statistical power in simulations and real-world data analysis of 70k brain cells collected for dissecting Alzheimer's disease. We identify 215 differentially regulated causal genes in various cell types, including highly relevant genes with a proper cell type context. Genes found in different types enrich distinctive pathways, implicating the importance of cell types in understanding multifaceted disease mechanisms.

Keywords

Spatial Transcriptomics
Gene Expression
Alzheimer’s disease
Causal inference
Counterfactual inference
Single-cell RNA-seq

MeSH terms

Alzheimer Disease
Brain
Causality
Gene Expression
Genetic Techniques
Genomic Medicine
Humans
Models, Statistical
RNA-Seq
Single-Cell Analysis
Transcriptome

Authors

Park, Yongjin P
Kellis, Manolis

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