Single-cell mutational burden distributions in birth-death processes

2023/09/12 by Christo Morison, Morison, Christo, Dudley Stark +3
Biochemistry, Genetics and Molecular Biology · Mathematics · #Cancer Genomics and Diagnostics #FOS: Biological sciences #FOS: Mathematics #Gene Regulatory Network Analysis #Mathematical Biology Tumor Growth #Populations and Evolution (q-bio.PE) #Probability (math.PR)

paper · pdf · doi:10.48550/arxiv.2309.06355

openalex publication_date 2023/09/12 · openalex created_date 2025/10/10 · openalex updated_date 2026/07/30

Abstract

Genetic mutations are footprints of tumour growth. While mutation data in bulk samples has been used to infer evolutionary parameters hard to measure in vivo, the advent of single-cell data has led to strong interest in the mutational burden distribution (MBD) among tumour cells. We introduce dynamical matrices and recurrence relations to integrate this single-cell MBD with known statistics, and derive new analytical expressions. Surprisingly, we find that the shape of the MBD is driven by cell lineage-level stochasticity rather than by the distribution of mutations in each cell division.

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