SVPG: a pangenome-based structural variant detection approach and rapid augmentation of pangenome graphs with new samples

Abstract

Breakthrough advances in long-read sequencing have opened unprecedented opportunities to study genetic variations through pangenome analysis, yet tools that effectively leverage such frameworks for structural variant (SV) detection remain limited. In addition, efficient construction of pangenome graphs becomes increasingly challenging with the acquisition of larger numbers of samples. Here we present SVPG, an approach that leverages haplotype-resolved pangenome reference for accurate SV detection and rapid pangenome graph augmentation from long-read sequencing data. Compared with state-of-the-art SV callers, SVPG maintained superior overall performance across different sequencing technologies and coverages. SVPG also achieved notable improvements in calling individual-specific SVs, including rare and somatic SVs. Furthermore, in a benchmark involving 20 samples, SVPG accelerated pangenome graph augmentation by nearly tenfold compared with traditional augmentation strategies. These results indicate that SVPG has the potential to improve SV detection and serve as an effective tool, offering new possibilities for advancing pangenomic research. SVPG performs accurate pangenome-facilitated structural variant detection and accelerates pangenome graph augmentation using long-read sequencing data.