Article
Confounding factors in assessing the enriched expression of somatic mutant alleles in bulk tumor samples.
Genome research - 7 Apr 2026
Hagiwara Kohei, Thrasher Andrew, Terekhanova Nadezhda V, Zhang Jinghui
Abstract excerpt
Allele-specific expression (ASE) of somatic mutations can be caused by cis-activation of the mutant allele or silencing of the wild-type allele and has been investigated by examining the enrichment of mutant allele in RNA relative to DNA. Here we show that this mutation-based approach can be confounded by gene expression differences in tumor and normal cells that coexist in most bulk tumor samples. We model...
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