ChromoPattern: characterizing chromosomal rearrangement patterns of copy number alteration in heterogeneous tumor cell populations at single-cell resolution.

ABSTRACT: Cancer is characterized by aneuploidy, often resulting from chromosomal instability (CIN) due to events such as whole-genome duplication (WGD), breakage-fusion-bridge (BFB) cycles, and chromothripsis. These catastrophic events drive de novo copy number alterations (CNAs) with different chromosomal rearrangement patterns, contributing to tumor heterogeneity and evolution. The lack of methods capable of dissecting complex patterns of CNAs at single-cell resolution limits the understanding of how chromosome aneuploidy influences tumor evolution. To address this, we developed ChromoPattern, a computational framework to quantify four distinct chromosomal rearrangement patterns associated with complex CNA mechanisms based on single-cell copy number profiles. ChromoPattern effectively differentia

SUBMITTER: Wang X 

PROVIDER: S-EPMC12560792 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature