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DNA-only Transposons02:57

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DNA-only transposons are called autonomous transposons since they code for the enzyme transposase that is required for the transposition mechanism. Insertion of transposons can alter gene functions in multiple ways. They can mutate the gene, alter gene expression by introducing a novel promoter or insulator sequence, introduce new splice sites, and change the mRNA transcripts produced, or remodel chromatin structure.
The donor site from where the transposon is excised is either degraded or...
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Detecting Medium and Large Insertions and Deletions with transIndel.

Ting-You Wang1, Rendong Yang2

  • 1The Hormel Institute, University of Minnesota, Austin, MN, USA.

Methods in Molecular Biology (Clifton, N.J.)
|June 25, 2022
PubMed
Summary

We developed transIndel, a new algorithm to detect medium and large insertions and deletions (indels) from RNA sequencing data. This method helps explore the transcriptional consequences of indels, previously challenging to identify.

Keywords:
Chimeric alignmentDNA-seqIndel detectionRNA-seqSplit reads

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Area of Science:

  • Genomics
  • Bioinformatics
  • Molecular Biology

Background:

  • Insertions and deletions (indels) are common genetic variations.
  • Detecting indels from DNA sequencing (DNA-seq) is established, but their impact on transcription is less understood.
  • Distinguishing medium- and large-sized indels from RNA splicing events in RNA sequencing (RNA-seq) data presents a significant challenge.

Purpose of the Study:

  • To introduce transIndel, a novel splice-aware algorithm for indel detection.
  • To enable the exploration of transcriptional consequences of indels using RNA-seq data.
  • To provide a method for reconstructing mid-sized insertions and large deletions from sequencing data.

Main Methods:

  • Developed transIndel, a splice-aware bioinformatics algorithm.
  • The algorithm parses chimeric alignments predicted by short read aligners.
  • Reconstructs mid-sized insertions and large deletions using linear alignments of split reads from DNA-seq or RNA-seq data.

Main Results:

  • Successfully developed a method to distinguish indels from splicing events in RNA-seq.
  • Demonstrated the capability to reconstruct medium- and large-sized indels.
  • Provided a tutorial for transIndel installation and application.

Conclusions:

  • transIndel offers a robust solution for identifying indels and their transcriptional effects from RNA-seq data.
  • The algorithm overcomes previous limitations in distinguishing indels from splicing.
  • Facilitates deeper understanding of genetic variation impact on gene expression.