Reconstructing tumor clonal heterogeneity and evolutionary relationships based on tumor DNA sequencing data.

ABSTRACT: The heterogeneity of tumor clones drives the selection and evolution of distinct tumor cell populations, resulting in an intricate and dynamic tumor evolution process. While tumor bulk DNA sequencing helps elucidate intratumor heterogeneity, challenges such as the misidentification of mutation multiplicity due to copy number variations and uncertainties in the reconstruction process hinder the accurate inference of tumor evolution. In this study, we introduce a novel approach, REconstructing Tumor Clonal Heterogeneity and Evolutionary Relationships (RETCHER), which characterizes more realistic cancer cell fractions by accurately identifying mutation multiplicity while considering uncertainty during the reconstruction process and the credibility and reasonableness of subclone clustering. Th

SUBMITTER: Wang Z 

PROVIDER: S-EPMC11483135 | biostudies-literature | 2024 Sep

REPOSITORIES: biostudies-literature