Here the authors introduce VACmap, a nonlinear long-read aligner that improves detection of complex structural variations like duplications, inversions, and gene conversions. It enhances SV callers’ performance on benchmarks and resolves clinically relevant loci in LPA, GBA1, and STRC genes.
- Hongyu Ding
- Fritz J. Sedlazeck
- Shanfeng Zhu
