Canada's Michael Smith Genome Sciences Centre, BC Cancer, Vancouver, BC, V5Z 4S6, Canada.
Department of Medical Genetics, University of British Columbia, Vancouver, BC, V6T 1Z3, Canada.
Genome Biol. 2021 Aug 13;22(1):224. doi: 10.1186/s13059-021-02447-3.
Tandem repeat (TR) expansion is the underlying cause of over 40 neurological disorders. Long-read sequencing offers an exciting avenue over conventional technologies for detecting TR expansions. Here, we present Straglr, a robust software tool for both targeted genotyping and novel expansion detection from long-read alignments. We benchmark Straglr using various simulations, targeted genotyping data of cell lines carrying expansions of known diseases, and whole genome sequencing data with chromosome-scale assembly. Our results suggest that Straglr may be useful for investigating disease-associated TR expansions using long-read sequencing.
串联重复（TR）扩展是 40 多种神经退行性疾病的根本原因。长读测序为检测 TR 扩展提供了比传统技术更有前途的途径。在这里，我们介绍了 Straglr，这是一种用于从长读对齐中进行靶向基因分型和新扩展检测的强大软件工具。我们使用各种模拟、携带已知疾病扩展的细胞系的靶向基因分型数据以及具有染色体级组装的全基因组测序数据来对 Straglr 进行基准测试。我们的结果表明，Straglr 可能有助于使用长读测序研究与疾病相关的 TR 扩展。
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