Segmentation-based detection of allelic imbalance and loss-of-heterozygosity in cancer cells using whole genome SNP arrays

Genome Biol. 2008;9(9):R136. doi: 10.1186/gb-2008-9-9-r136. Epub 2008 Sep 16.

Abstract

We present a strategy for detection of loss-of-heterozygosity and allelic imbalance in cancer cells from whole genome single nucleotide polymorphism genotyping data. Using a dilution series of a tumor cell line mixed with its paired normal cell line and data generated on Affymetrix and Illumina platforms, including paired tumor-normal samples and tumors characterized by fluorescent in situ hybridization, we demonstrate a high sensitivity and specificity of the strategy for detecting both minute and gross allelic imbalances in heterogeneous tumor samples.

Publication types

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

MeSH terms

  • Allelic Imbalance*
  • Breast Neoplasms / genetics*
  • Cell Line, Tumor
  • Gene Dosage
  • Genetic Techniques*
  • Humans
  • Loss of Heterozygosity*
  • Oligonucleotide Array Sequence Analysis
  • Polymorphism, Single Nucleotide*
  • Sensitivity and Specificity