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Navin Genome Biology 2014, 15:452
/2014/15/8/452
REVIEW
Cancer genomics: one cell at a time
Nicholas E Navin1,2,3
Abstract heterogeneity, tracing cell lineages, understanding rare
tumor cell populations and measuring mutation rates.
The study of single cancer cells has transformed from Such investigations were previously difficult to perform
qualitative microscopic images to quantitative genomic by sequencing bulk tissue samples, as these are limited
datasets. This paradigm shift has been fueled by the to providing an average signal from a complex population
development of single-cell sequencing technologies, of cells. While some clonal diversity can be resolved by
which provide a powerful new approach to study deconvoluting deep-sequencing data [5-7] and sequen-
complex biological processes in human cancers. cing different spatial regions of tumors [8], the data
still reflect an admixture signal. The presence of mul-
tiple clonal subpopulations and rare tumor cells is dif-
Introduction
ficult to resolve from these data, and determination of
Biologists have been studying single cancer cells since the
which combinations of mutations are present in any given
invention of the microscope by Antonie van Leeuwenhoek
cel
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