Whole-genome sequencing of glioblastoma reveals enrichment of non-coding constraint mutations in known and novel genes.

ABSTRACT:

Background

Glioblastoma (GBM) has one of the worst 5-year survival rates of all cancers. While genomic studies of the disease have been performed, alterations in the non-coding regulatory regions of GBM have largely remained unexplored. We apply whole-genome sequencing (WGS) to identify non-coding mutations, with regulatory potential in GBM, under the hypothesis that regions of evolutionary constraint are likely to be functional, and somatic mutations are likely more damaging than in unconstrained regions.

Results

We validate our GBM cohort, finding similar copy number aberrations and mutated genes based on coding mutations as previous studies. Performing analysis on non-coding constraint mutations and their position relative to nearby genes, we find a significant enrichment

SUBMITTER: Sakthikumar S 

PROVIDER: S-EPMC7281935 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature