Literature DB >> 35751809

Detecting Medium and Large Insertions and Deletions with transIndel.

Ting-You Wang1, Rendong Yang2.   

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.
© 2022. The Author(s), under exclusive license to Springer Science+Business Media, LLC, part of Springer Nature.

Entities:  

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

Mesh:

Substances:

Year:  2022        PMID: 35751809     DOI: 10.1007/978-1-0716-2293-3_5

Source DB:  PubMed          Journal:  Methods Mol Biol        ISSN: 1064-3745


  16 in total

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