Evaluating statistical approaches to define clonal origin of tumours using bulk DNA sequencing: context is everything

Tanjina Kader, Magnus Zethoven, Kylie L. Gorringe
2022 Genome Biology  
AbstractClonal analysis of tumour sequencing data enables the evaluation of the relationship of histologically distinct synchronous lesions, such as co-existing benign areas, and temporally distinct tumours, such as primary-recurrence comparisons. In this review, we summarise statistical approaches that are commonly employed to define tumour clonal relatedness using data from bulk DNA technologies. We discuss approaches using total copy number, allele-specific copy number and mutation data, and
more » ... the relative genomic resolution required for analysis and summarise some of the current tools for inferring clonal relationships. We argue that the impact of the biological context is critical in selecting any particular approach, such as the relative genomic complexity of the lesions being compared, and we recommend considering this context before employing any method to a new dataset.
doi:10.1186/s13059-022-02600-6 pmid:35109903 pmcid:PMC8809045 fatcat:uj6saf43ifezjpjhn6mtp5pw2y