ArticleGenome biology2025
TRsv: simultaneous detection of tandem repeat variations, structural variations, and short indels using long read sequencing data.
Article in Genome biology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed.
- Toward the clinical application of long-read sequencing in repeat-expansion disorders.Nature genetics · 2026Review
- A comprehensive assessment of tandem repeat genotyping methods for Nanopore long-read genomes.bioRxiv : the preprint server for biology · 2026Article
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Authors and funding
2 authors.
Funding
Abstract
Tandem repeat copy number variations (TR-CNVs), structural variations (SVs), and short indels have been responsible for many diseases and traits, but no tools exist to distinguish and detect these variants. In this study, we developed a computational tool, TRsv, to distinguish and detect TR-CNVs, SVs, and short indels using long reads. In evaluation with simulated and real datasets, TRsv outperformed existing tools for detection of TR-CNVs and indels and performed equally well for detection of SVs. We demonstrated genome-wide detection of TR-CNVs, including variants associated with gene expression, disease, and quantitative traits, using 160 long-read whole genome sequencing data and TRsv.
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Registered trials
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