TRsv: simultaneous detection of tandem repeat variations, structural variations, and short indels using long read sequencing data

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...

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Bibliographic Details
Main Authors: Shunichi Kosugi, Chikashi Terao
Format: Article
Language:English
Published: BMC 2025-08-01
Series:Genome Biology
Subjects:
Online Access:https://doi.org/10.1186/s13059-025-03718-z
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