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ReMixT: clone-specific genomic structure estimation in cancer.

Andrew W McPhersonAndrew RothGavin HaCedric ChauveAdi SteifCamila P E de SouzaPeter EirewAlexandre Bouchard-CôtéSam AparicioS Cenk SahinalpSohrab P Shah
Published in: Genome biology (2017)
Somatic evolution of malignant cells produces tumors composed of multiple clonal populations, distinguished in part by rearrangements and copy number changes affecting chromosomal segments. Whole genome sequencing mixes the signals of sampled populations, diluting the signals of clone-specific aberrations, and complicating estimation of clone-specific genotypes. We introduce ReMixT, a method to unmix tumor and contaminating normal signals and jointly predict mixture proportions, clone-specific segment copy number, and clone specificity of breakpoints. ReMixT is free, open-source software and is available at http://bitbucket.org/dranew/remixt .
Keyphrases
  • copy number
  • mitochondrial dna
  • genome wide
  • dna methylation
  • signaling pathway
  • gene expression
  • squamous cell carcinoma
  • oxidative stress
  • squamous cell