cuteFC: regenotyping structural variants through an accurate and efficient force-calling method
Long-read sequencing technologies have great potential for the comprehensive discovery of structural variations (SVs). However, accurate genotype assignment for SVs remains challenging due to unavoidable sequencing errors, limited coverage, and the complexity of SVs. Herein, we propose cuteFC, which employs self-adaptive clustering along with a multiallele-aware clustering to achieve accurate SV regenotyping through a force-calling approach. cuteFC also applies a Genome Position Scanner algorithm to improve its application efficiency. Benchmarking evaluations demonstrate that cuteFC outperforms state-of-the-art methods with 2-5% higher F1 scores and constructs a higher-quality genomic atlas with minimal computational resources. cuteFC is available at https://github.com/Meltpinkg/cuteFC and https://zenodo.org/records/14671406 .
Authors
- Zhendong Zhang (ORCID: https://orcid.org/0009-0000-7819-849X)
- Ruibang Luo (ORCID: https://orcid.org/0000-0001-9711-6533)
- Tao Jiang (ORCID: https://orcid.org/0000-0002-0673-8503)
- Shuqi Cao (ORCID: https://orcid.org/0000-0002-1163-2797)
- Yadong Wang (ORCID: https://orcid.org/0000-0001-6500-6217)
- Yadong Liu (ORCID: https://orcid.org/0000-0001-8385-1908)
- Guohua Wang
- Bo Liu (ORCID: https://orcid.org/0009-0005-6182-8172)
Institutions
- Harbin Institute of Technology (CN)
- University of Hong Kong (HK)
Publication Details
- Journal
- Genome biology
- Published
- 2025-06-13
- DOI
- https://doi.org/10.1186/s13059-025-03642-2
- Citations
- 14
- Primary Topic
- RNA Research and Splicing
- Type
- article
- Field-Weighted Citation Impact
- 10.48
Funders
- Heilongjiang Postdoctoral Science Foundation
- National Natural Science Foundation of China
- China Postdoctoral Science Foundation
- Harbin Institute of Technology
- National Key Research and Development Program of China