CONET: Copy number event tree model of evolutionary tumor history for single-cell data

Abstract

Copy number alterations constitute important phenomena in tumor evolution. Whole genome single cell sequencing gives insight into copy number profiles of individual cells, but is highly noisy. Here, we propose CONET, a probabilistic model for joint inference of the evolutionary tree on copy number events and copy number calling. CONET employs an efficient MCMC procedure to search the space of possible model structures and parameters and utilizes both per-bin and per-breakpoint data. We introduce a range of model priors and penalties for efficient regularization. CONET achieves excellent performance on simulated data and for 260 cells from xenograft breast cancer sample.