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 ...

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 ...