scSNV: accurate dscRNA-seq SNV co-expression analysis using duplicate tag collapsing

Genome Biol. 2021 May 7;22(1):144. doi: 10.1186/s13059-021-02364-5.

Abstract

Identifying single nucleotide variants has become common practice for droplet-based single-cell RNA-seq experiments; however, presently, a pipeline does not exist to maximize variant calling accuracy. Furthermore, molecular duplicates generated in these experiments have not been utilized to optimally detect variant co-expression. Herein, we introduce scSNV designed from the ground up to "collapse" molecular duplicates and accurately identify variants and their co-expression. We demonstrate that scSNV is fast, with a reduced false-positive variant call rate, and enables the co-detection of genetic variants and A>G RNA edits across twenty-two samples.

Keywords: Alignment; Genetic variation; Single-cell RNA-seq; Variant calling.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Algorithms
  • Alleles
  • Computer Simulation
  • Humans
  • Polymerase Chain Reaction
  • Polymorphism, Single Nucleotide / genetics*
  • RNA, Messenger / genetics
  • RNA, Messenger / metabolism
  • RNA-Seq
  • Single-Cell Analysis
  • Software*
  • Whole Genome Sequencing

Substances

  • RNA, Messenger