Linking transcriptional and genetic tumor heterogeneity through allele analysis of single-cell RNA-seq data.

ABSTRACT: Characterization of intratumoral heterogeneity is critical to cancer therapy, as the presence of phenotypically diverse cell populations commonly fuels relapse and resistance to treatment. Although genetic variation is a well-studied source of intratumoral heterogeneity, the functional impact of most genetic alterations remains unclear. Even less understood is the relative importance of other factors influencing heterogeneity, such as epigenetic state or tumor microenvironment. To investigate the relationship between genetic and transcriptional heterogeneity in a context of cancer progression, we devised a computational approach called HoneyBADGER to identify copy number variation and loss of heterozygosity in individual cells from single-cell RNA-sequencing data. By integrating allele and

SUBMITTER: Fan J 

PROVIDER: S-EPMC6071640 | biostudies-literature | 2018 Aug

REPOSITORIES: biostudies-literature