Long read Structural Variation calling remains a challenging but highly accurate way to identify complex genomic alterations. To address this challenge, we developed Sniffles2, a successor to ...

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 ...

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: ...

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 ...

Whole-genome sequencing detects single nucleotide variants but tends to miss larger changes, such as deletions, insertions, duplications, and inversions. Using a new machine-learning method to analyze ...