Population-level allelic dispersion modeling by maelstRom yields genome-wide maps of allele-specific dysregulation during early carcinogenesis.

ABSTRACT:

Background

Since its inception, RNA sequencing has been pivotal in studying differential gene expression. Despite its extensive results in large-scale oncological studies, differential expression predominantly reflects a response to cancer. Therefore, we introduce differential allelic dispersion (AD) as a more effective measure. AD highlights consistent differences in expression between the 2 alleles of a gene that is, unlike cis-expression quantitative trait loci, independent of normal genetic variation. Such differences can, for example, arise from prevalent copy number alterations or epimutations occurring in the original cancer cell, which are mitotically expanded during cancer growth, making increased AD a marker for allele-specific dysregulation in early carcinogenesis.

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SUBMITTER: Stroobandt C 

PROVIDER: S-EPMC12585351 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature