Mosaic autosomal aneuploidies are detectable from single-cell RNAseq data.

ABSTRACT:

Background

Aneuploidies are copy number variants that affect entire chromosomes. They are seen commonly in cancer, embryonic stem cells, human embryos, and in various trisomic diseases. Aneuploidies frequently affect only a subset of cells in a sample; this is known as "mosaic" aneuploidy. A cell that harbours an aneuploidy exhibits disrupted gene expression patterns which can alter its behaviour. However, detection of aneuploidies using conventional single-cell DNA-sequencing protocols is slow and expensive.

Methods

We have developed a method that uses chromosome-wide expression imbalances to identify aneuploidies from single-cell RNA-seq data. The method provides quantitative aneuploidy calls, and is integrated into an R software package available on GitHub and as an Addit

SUBMITTER: Griffiths JA 

PROVIDER: S-EPMC5702132 | biostudies-literature | 2017 Nov

REPOSITORIES: biostudies-literature