OncoCis: annotation of cis-regulatory mutations in cancer

Genome Biol. 2014;15(10):485. doi: 10.1186/s13059-014-0485-0.

Abstract

Whole genome sequencing has enabled the identification of thousands of somatic mutations within non-coding genomic regions of individual cancer samples. However, identification of mutations that potentially alter gene regulation remains a major challenge. Here we present OncoCis, a new method that enables identification of potential cis-regulatory mutations using cell type-specific genome and epigenome-wide datasets along with matching gene expression data. We demonstrate that the use of cell type-specific information and gene expression can significantly reduce the number of candidate cis-regulatory mutations compared with existing tools designed for the annotation of cis-regulatory SNPs. The OncoCis webserver is freely accessible at https://powcs.med.unsw.edu.au/OncoCis/.

Publication types

  • Research Support, Non-U.S. Gov't
  • Validation Study

MeSH terms

  • Computational Biology
  • DNA Mutational Analysis
  • Databases, Genetic*
  • Epigenomics
  • Gene Expression Regulation, Neoplastic*
  • Humans
  • Molecular Sequence Annotation*
  • Mutation*
  • Neoplasms / genetics*
  • Promoter Regions, Genetic
  • Software*
  • Telomerase / chemistry
  • Telomerase / genetics

Substances

  • TERT protein, human
  • Telomerase