Experimental and computational methods for allelic imbalance analysis from single-nucleus RNA-seq data.

Genome biology
Authors
Keywords
Abstract

Combining allele-specific expression (ASE) analysis with single-cell RNA-seq can elucidate how genomic variation affects RNA expression at the single-cell level. We explore how experimental and computational choices impact the power of ASE-based methods and develop a suite of single-cell ASE computational tools. With single-nucleus RNA-Seq, we extract more ASE information from reads in intronic than exonic regions. We show how read length can increase power and that hybrid selection improves power to detect ASE in targeted genes. We apply our methods to a Parkinson's disease cohort and show that ASE analysis has more power than eQTL analysis.

Year of Publication
2026
Journal
Genome biology
Date Published
04/2026
ISSN
1474-760X
DOI
10.1186/s13059-026-04062-6
PubMed ID
41965748
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