Structural genetic variants, from detection to phenotype

Structural genetic variants include large (>50 base pairs) duplications, inversion, translocations or deletions. Recent advances in long-read sequencing and optical genome mapping, combined with more classic techniques, are making detection of structural variants more easily achievable, while identifying the consequences of such variants can still be challenging.

This cross-journal Collection with Communications Biology, Communications Medicine, Nature Communications and Scientific Reports invites submissions focusing on structural variants (SVs) in organismal biology and disease. Relevant topics include insights into the molecular and phenotypic consequences of SVs, and developments and methods to detect, interpret and model SVs or to predict their impact. While we may consider Reviews, Perspectives, and Comments, primary research and methods development will be the main priority in this Collection.