Single-cell RNA-seq variant analysis for exploration of genetic heterogeneity in cancer.

ABSTRACT: Inter- and intra-tumour heterogeneity is caused by genetic and non-genetic factors, leading to severe clinical implications. High-throughput sequencing technologies provide unprecedented tools to analyse DNA and RNA in single cells and explore both genetic heterogeneity and phenotypic variation between cells in tissues and tumours. Simultaneous analysis of both DNA and RNA in the same cell is, however, still in its infancy. We have thus developed a method to extract and analyse information regarding genetic heterogeneity that affects cellular biology from single-cell RNA-seq data. The method enables both comparisons and clustering of cells based on genetic variation in single nucleotide variants, revealing cellular subpopulations corroborated by gene expression-based methods. Furthermore,

SUBMITTER: Fasterius E 

PROVIDER: S-EPMC6606766 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature