Abstract
Background Tumor phylogenies provide insightful information on intra-tumor heterogeneity and evolutionary trajectories. Single-cell sequencing (SCS) enables the inference of tumor phylogenies and methods were recently introduced for this task under the infinite-sites assumption.
Results Violations of this assumption, due to chromosomal deletions and loss of heterozygosity, necessitate the development of statistical inference methods that utilize finite-site models. We propose a statistical inference method for tumor phylogenies from noisy SCS data under a finite-sites model. We demonstrate the performance of our method on synthetic and biological data sets.
Conclusion Our results suggest that employing a finite-sites model leads to improved inference of tumor phylogenies.