Challenges in structural variant calling in low-complexity regions
SVs are enriched and difficult to call in LCRs. Special care needs to be taken for calling and analyzing these variants.
Authors
- Qian Qin (ORCID: https://orcid.org/0000-0002-2119-6263)
- Heng Li (ORCID: https://orcid.org/0000-0003-4874-2874)
Institutions
- Broad Institute (US)
- Brigham and Women's Hospital (US)
- Harvard University (US)
- Dana-Farber Cancer Institute (US)
Publication Details
- Journal
- GigaScience
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1093/gigascience/giaf154
- Citations
- 2
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 3.63
Funders
- National Human Genome Research Institute