Whole-genome single-cell copy number profiling from formalin-fixed paraffin-embedded samples.

ABSTRACT: A substantial proportion of tumors consist of genotypically distinct subpopulations of cancer cells. This intratumor genetic heterogeneity poses a substantial challenge for the implementation of precision medicine. Single-cell genomics constitutes a powerful approach to resolve complex mixtures of cancer cells by tracing cell lineages and discovering cryptic genetic variations that would otherwise be obscured in tumor bulk analyses. Because of the chemical alterations that result from formalin fixation, single-cell genomic approaches have largely remained limited to fresh or rapidly frozen specimens. Here we describe the development and validation of a robust and accurate methodology to perform whole-genome copy-number profiling of single nuclei obtained from formalin-fixed paraffin-embedd

SUBMITTER: Martelotto LG 

PROVIDER: S-EPMC5608257 | biostudies-literature | 2017 Mar

REPOSITORIES: biostudies-literature