Interrogating Mutant Allele Expression via Customized Reference Genomes to Define Influential Cancer Mutations.

ABSTRACT: Genetic alterations are essential for cancer initiation and progression. However, differentiating mutations that drive the tumor phenotype from mutations that do not affect tumor fitness remains a fundamental challenge in cancer biology. To better understand the impact of a given mutation within cancer, RNA-sequencing data was used to categorize mutations based on their allelic expression. For this purpose, we developed the MAXX (Mutation Allelic Expression Extractor) software, which is highly effective at delineating the allelic expression of both single nucleotide variants and small insertions and deletions. Results from MAXX demonstrated that mutations can be separated into three groups based on their expression of the mutant allele, lack of expression from both alleles, or expression o

SUBMITTER: Grant AD 

PROVIDER: S-EPMC6726654 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature