Single-cell copy number calling and event history reconstruction.

ABSTRACT:

Motivation

Copy number alterations are driving forces of tumour development and the emergence of intra-tumour heterogeneity. A comprehensive picture of these genomic aberrations is therefore essential for the development of personalised and precise cancer diagnostics and therapies. Single-cell sequencing offers the highest resolution for copy number profiling down to the level of individual cells. Recent high-throughput protocols allow for the processing of hundreds of cells through shallow whole-genome DNA sequencing. The resulting low read-depth data poses substantial statistical and computational challenges to the identification of copy number alterations.

Results

We developed SCICoNE, a statistical model and MCMC algorithm tailored to single-cell copy number profiling fr

SUBMITTER: Kuipers J 

PROVIDER: S-EPMC11897432 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature