期刊
GENOME BIOLOGY
卷 22, 期 1, 页码 -出版社
BMC
DOI: 10.1186/s13059-021-02447-3
关键词
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资金
- Canadian Institutes of Health Research (CIHR) [16907]
- Genome Canada [281ANV]
- Genome British Columbia [281ANV]
Tandem repeat (TR) expansion is the underlying cause of over 40 neurological disorders, and long-read sequencing technology offers an exciting avenue for detecting TR expansions. The software tool Straglr allows for targeted genotyping and novel expansion detection, showing potential for investigating disease-associated TR expansions using long-read sequencing.
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.
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