Detecting Medium and Large Insertions and Deletions with transIndel

Methods Mol Biol. 2022:2493:67-75. doi: 10.1007/978-1-0716-2293-3_5.

Abstract

Insertions and deletions (indels) are primarily detected from DNA sequencing (DNA-seq) data, but their transcriptional consequences remain unexplored due to challenges in distinguishing medium- and large-sized indels from RNA splicing events in RNA-seq data. We introduce transIndel, a splice-aware algorithm that parses the chimeric alignments predicted by a short read aligner and reconstructs the mid-sized insertions and large deletions based on the linear alignments of split reads from DNA-seq or RNA-seq data. Here, we describe the method and provide a tutorial on the installation and application of transIndel.

Keywords: Chimeric alignment; DNA-seq; Indel detection; RNA-seq; Split reads.

MeSH terms

  • Algorithms
  • DNA
  • INDEL Mutation*
  • RNA Splicing
  • Software*

Substances

  • DNA