Population-level structural variant (SV) profiling is crucial in the era of pangenomes. However, identifying SVs from genome assemblies and pangenome graphs remains a substantial challenge. Here we ...

Structural variants (SVs) are the most common nucleotide alteration per human genome compared to other variant types and have profound implications in evolution, diseases and regulation of genes.

A team of Vanderbilt researchers has developed a novel tool in the detection and analysis of structural variants (SVs) in human genomes that could potentially transform genomic analysis and precision ...

Université de Strasbourg and partners report that adding structural variants and small insertion–deletion mutations to single-nucleotide polymorphism analyses raised trait heritability estimates by 14 ...

A landmark study harnesses long-read sequencing to reveal vast, previously undetected structural variations in human DNA, reshaping our understanding of genetics and disease potential. Study: ...