Structural variant detection across sequencing technologies.

HitSV improves structural variant detection accuracy by 15-72% across sequencing technologies and expands SV callsets by 31.5% in human cohorts.

• Why it matters: Accurate detection of structural variants is hindered by repetitive genomic regions and sequencing limitations, which impedes understanding of human genetic diversity and disease.
• What they did: The authors developed HitSV, a method combining repetitiveness- and signature-density-aware breakpoint recognition with haplotype-resolved local assembly, tested on multiple sequencing data types.
• The result: HitSV outperformed existing tools in genotype F1 scores, uncovered complex multi-allelic SVs, and significantly reshaped allele-frequency landscapes, revealing new contributors to human variation.