Single-cell aneuploidy and chromosomal arm imbalances define subclones with divergent transcriptomic phenotypes.

ABSTRACT: Cancers are characterized by genomic instability events such as aneuploidy, chromosomal arm imbalances, and segmental copy number changes. These genomic features frequently define different subclones within a tumor. Single-cell DNA sequencing (scDNA-seq) identifies these large-scale genomic alterations that define subclonal features. However, scDNA-seq does not provide biological phenotypic information on individual subclones. Single-cell RNA sequencing (scRNA-seq) offers biological information but is less accurate in discovering genomic instability events. We developed a computational framework, scAlign, for integrating scRNA-seq and scDNA-seq from the same specimen and define subclonal cellular phenotypes at the resolution of individual cells. Subclones were defined by aneuploidy and chr

SUBMITTER: Bai X 

PROVIDER: S-EPMC12576799 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature