Related Experiment Video
Updated: Feb 25, 2026

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing
Published on: October 18, 2013
ReMixT: clone-specific genomic structure estimation in cancer
Andrew W McPherson1,2, Andrew Roth3,4, Gavin Ha5,6
1Department of Molecular Oncology, BC Cancer Agency, 675 West 10th Avenue, Vancouver, BC, Canada.
Abstract:
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 .

