Cell-level somatic mutation detection from single-cell RNA sequencing.

ABSTRACT:

Motivation

Both single-cell RNA sequencing (scRNA-seq) and DNA sequencing (scDNA-seq) have been applied for cell-level genomic profiling. For mutation profiling, the latter seems more natural. However, the task is highly challenging due to the limited input materials from only two copies of DNA molecules, while whole-genome amplification generates biases and other technical noises. ScRNA-seq starts with a higher input amount, so generally has better data quality. There exists various methods for mutation detection from DNA sequencing, it is not clear whether these methods work for scRNA-seq data.

Results

Mutation detection methods developed for either bulk-cell sequencing data or scDNA-seq data do not work well for the scRNA-seq data, as they produce substantial numbers of f

SUBMITTER: Vu TN 

PROVIDER: S-EPMC6853710 | biostudies-literature | 2019 Nov

REPOSITORIES: biostudies-literature