SVhet: towards accurate detection of germline heterozygous deletions using short reads
SVhet provides an accurate and efficient solution for evaluating heterozygous deletions derived from short read sequencing data. SVhet can be used as a standalone tool or in conjunction with other filtering tools such as duphold. Importantly, it does not require additional variant sets, and can operate with minimal compute. Altogether, SVhet adds to the current effort to achieve accurate structural variant detection using short reads.
Authors
- H.S. Chan (ORCID: https://orcid.org/0000-0002-2990-0163)
- Wanling Yang (ORCID: https://orcid.org/0000-0003-0063-6327)
- Chun Hing She
Institutions
- Chinese University of Hong Kong (HK)
- University of Hong Kong (HK)
Publication Details
- Journal
- BMC Bioinformatics
- Published
- 2025-12-07
- DOI
- https://doi.org/10.1186/s12859-025-06342-7
- Primary Topic
- Genomics and Phylogenetic Studies
- Type
- article
- Field-Weighted Citation Impact
- 0.00