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Straglr: discovering and genotyping tandem repeat expansions using whole genome long-read sequences
- Source :
- Genome Biology, Vol 22, Iss 1, Pp 1-20 (2021)
- Publication Year :
- 2021
- Publisher :
- BMC, 2021.
-
Abstract
- Abstract 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.
- Subjects :
- Biology (General)
QH301-705.5
Genetics
QH426-470
Subjects
Details
- Language :
- English
- ISSN :
- 1474760X
- Volume :
- 22
- Issue :
- 1
- Database :
- Directory of Open Access Journals
- Journal :
- Genome Biology
- Publication Type :
- Academic Journal
- Accession number :
- edsdoj.85592e9644641fe91b132fd7fabdda3
- Document Type :
- article
- Full Text :
- https://doi.org/10.1186/s13059-021-02447-3