Systematic interrogation of mutation groupings reveals divergent downstream expression programs within key cancer genes.

ABSTRACT:

Background

Genes implicated in tumorigenesis often exhibit diverse sets of genomic variants in the tumor cohorts within which they are frequently mutated. For many genes, neither the transcriptomic effects of these variants nor their relationship to one another in cancer processes have been well-characterized. We sought to identify the downstream expression effects of these mutations and to determine whether this heterogeneity at the genomic level is reflected in a corresponding heterogeneity at the transcriptomic level.

Results

By applying a novel hierarchical framework for organizing the mutations present in a cohort along with machine learning pipelines trained on samples' expression profiles we systematically interrogated the signatures associated with combinations of mu

SUBMITTER: Grzadkowski MR 

PROVIDER: S-EPMC8101181 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature