Large indel detection in region-based phased diploid assemblies from linked-reads
RegionIndel can achieve diploid assembly and detect indel SVs in each target region. The phased diploid contigs can further allow us to investigate indel SVs with nearby linked single nucleotide polymorphism (SNPs) and small indels in the same haplotype.
Authors
- Brock A. Peters (ORCID: https://orcid.org/0000-0002-5137-3902)
- Xin Zhou (ORCID: https://orcid.org/0000-0003-4015-4787)
- Can Luo (ORCID: https://orcid.org/0000-0002-7311-5963)
Institutions
- Vanderbilt University (US)
- Complete Genomics (United States) (US)
Publication Details
- Journal
- BMC Genomics
- Published
- 2025-03-18
- DOI
- https://doi.org/10.1186/s12864-025-11398-z
- Citations
- 2
- Primary Topic
- Genomics and Phylogenetic Studies
- Type
- article
- Field-Weighted Citation Impact
- 1.61
Funders
- National Institutes of Health