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 ...

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 ...

Deciphering how noncoding DNA determines gene expression is critical for decoding the functional genome. Understanding the transcription effects of noncoding genetic variants are still major unsolved ...

Assessments of DNA misrepair, and the resulting effects on the structural integrity of the genome, are critical for evaluating the safety of cell and gene therapy applications. Most genome editing ...

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: ...

The first and largest dataset of genomic structure variations specific to childhood cancers was published today by scientists from St. Jude Children's Research Hospital and the National Cancer ...