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Updated: Jan 31, 2026

RNA Next-Generation Sequencing and a Bioinformatics Pipeline to Identify Expressed LINE-1s at the Locus-Specific Level
Published on: May 19, 2019
SQuIRE reveals locus-specific regulation of interspersed repeat expression
Wan R Yang1, Daniel Ardeljan1,2, Clarissa N Pacyna1,3
1Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Transposable elements (TEs) are crucial genomic components. New software, SQuIRE, accurately quantifies TE expression at specific locations, revealing their impact on gene regulation and disease.
Area of Science:
- Genomics
- Molecular Biology
- Bioinformatics
Background:
- Transposable elements (TEs) constitute a significant portion of the human genome.
- TE expression is linked to biological development and various diseases.
- Quantifying TE-derived RNA sequencing reads is challenging, hindering understanding of their functional impact.
Purpose of the Study:
- To develop a novel RNA-seq analysis pipeline for accurate, locus-specific quantification of transposable element expression.
- To provide a user-friendly tool for analyzing TE transcription across different species.
Main Methods:
- Introduction of Software for Quantifying Interspersed Repeat Expression (SQuIRE), a new bioinformatics pipeline.
- Application of SQuIRE to RNA-seq data from normal mouse tissues.
- Utilisation of SQuIRE on a Drosophila model of amyotrophic lateral sclerosis.
Main Results:
- SQuIRE successfully quantified locus-specific transposable element expression.
- Previously reported TE subfamily expression levels were recapitulated.
- Differences in TE transcription patterns related to transcript type, gene expression, and RNA splicing were identified.
Conclusions:
- Locus-specific analysis of transposable element transcription is crucial for understanding their effects on gene expression and phenotypes.
- SQuIRE offers an accurate and accessible method for detailed TE expression studies.
- This approach overcomes limitations of subfamily-level analyses, providing deeper insights into TE functions.
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