A novel and accelerated method for integrated alignment and variant calling from short and long reads
The DNAscope Hybrid pipeline is a computationally efficient, highly accurate variant calling framework that leverages the advantages of both short- and long-read sequencing. By improving variant detection in challenging genomic regions and offering a robust solution for clinical and large-scale genomic applications, it holds significant promise for genetic disease diagnostics, population-scale studies, and personalized medicine.
Authors
- Donald Freed (ORCID: https://orcid.org/0000-0003-4534-7254)
- Hong Chen (ORCID: https://orcid.org/0000-0003-3876-6514)
- Zhipan Li
- J. Hu
- Hanying Feng
- Haodong Chen
Institutions
- Sentieon (United States) (US)
Publication Details
- Journal
- Frontiers in Bioinformatics
- Published
- 2026-01-05
- DOI
- https://doi.org/10.3389/fbinf.2025.1691056
- Citations
- 1
- Primary Topic
- Genomics and Phylogenetic Studies
- Type
- article
- Field-Weighted Citation Impact
- 0.00