Differential analysis between somatic mutation and germline variation profiles reveals cancer-related genes

Pawel F. Przytycki, Mona Singh

Research output: Contribution to journalArticle

9 Scopus citations

Abstract

A major aim of cancer genomics is to pinpoint which somatically mutated genes are involved in tumor initiation and progression. We introduce a new framework for uncovering cancer genes, differential mutation analysis, which compares the mutational profiles of genes across cancer genomes with their natural germline variation across healthy individuals. We present DiffMut, a fast and simple approach for differential mutational analysis, and demonstrate that it is more effective in discovering cancer genes than considerably more sophisticated approaches. We conclude that germline variation across healthy human genomes provides a powerful means for characterizing somatic mutation frequency and identifying cancer driver genes. DiffMut is available at https://github.com/Singh-Lab/Differential-Mutation-Analysis.

Original languageEnglish (US)
Article number79
JournalGenome Medicine
Volume9
Issue number1
DOIs
StatePublished - Aug 25 2017

All Science Journal Classification (ASJC) codes

  • Molecular Medicine
  • Molecular Biology
  • Genetics
  • Genetics(clinical)

Keywords

  • Cancer
  • Cancer driver genes
  • Germline variation
  • Somatic mutations
  • Whole-exome sequencing

Fingerprint Dive into the research topics of 'Differential analysis between somatic mutation and germline variation profiles reveals cancer-related genes'. Together they form a unique fingerprint.

  • Cite this