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 ...

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 ...

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 ...