@article{Potter01122013,
author = {Potter, Nicola E. and Ermini, Luca and Papaemmanuil, Elli and Cazzaniga, Giovanni and Vijayaraghavan, Gowri and Titley, Ian and Ford, Anthony and Campbell, Peter and Kearney, Lyndal and Greaves, Mel}, 
title = {Single-cell mutational profiling and clonal phylogeny in cancer},
volume = {23}, 
number = {12}, 
pages = {2115-2125}, 
year = {2013}, 
doi = {10.1101/gr.159913.113}, 
abstract ={The development of cancer is a dynamic evolutionary process in which intraclonal, genetic diversity provides a substrate for clonal selection and a source of therapeutic escape. The complexity and topography of intraclonal genetic architectures have major implications for biopsy-based prognosis and for targeted therapy. High-depth, next-generation sequencing (NGS) efficiently captures the mutational load of individual tumors or biopsies. But, being a snapshot portrait of total DNA, it disguises the fundamental features of subclonal variegation of genetic lesions and of clonal phylogeny. Single-cell genetic profiling provides a potential resolution to this problem, but methods developed to date all have limitations. We present a novel solution to this challenge using leukemic cells with known mutational spectra as a tractable model. DNA from flow-sorted single cells is screened using multiplex targeted Q-PCR within a microfluidic platform allowing unbiased single-cell selection, high-throughput, and comprehensive analysis for all main varieties of genetic abnormalities: chimeric gene fusions, copy number alterations, and single-nucleotide variants. We show, in this proof-of-principle study, that the method has a low error rate and can provide detailed subclonal genetic architectures and phylogenies.}, 
URL = {http://genome.cshlp.org/content/23/12/2115.abstract}, 
eprint = {http://genome.cshlp.org/content/23/12/2115.full.pdf+html}, 
journal = {Genome Research} 
}