Virmid: accurate detection of somatic mutations with sample impurity inference

Genome Biol. 2013 Aug 29;14(8):R90. doi: 10.1186/gb-2013-14-8-r90.

Abstract

Detection of somatic variation using sequence from disease-control matched data sets is a critical first step. In many cases including cancer, however, it is hard to isolate pure disease tissue, and the impurity hinders accurate mutation analysis by disrupting overall allele frequencies. Here, we propose a new method, Virmid, that explicitly determines the level of impurity in the sample, and uses it for improved detection of somatic variation. Extensive tests on simulated and real sequencing data from breast cancer and hemimegalencephaly demonstrate the power of our model. A software implementation of our method is available at http://sourceforge.net/projects/virmid/.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Alleles
  • Breast Neoplasms / diagnosis
  • Breast Neoplasms / genetics*
  • Exome
  • Female
  • Gene Frequency
  • Hemimegalencephaly / diagnosis
  • Hemimegalencephaly / genetics*
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Likelihood Functions
  • Mutation*
  • Neoplasm Proteins / genetics*
  • Software*
  • Tumor Microenvironment / genetics*

Substances

  • Neoplasm Proteins