Resolving large-scale genome evolution in the high-throughput sequencing era: structural variants, genome rearrangement, and karyotype dynamics in animals

Célian Diblasi , Nicola Jane Barson, Marie Saitou

Genomic structural variation, genomic rearrangements and karyotype variants are important components on which evolution acts in addition to single nucleotide variants, which are the most common type of variant being studied since the rise of next generation sequencing. These variants have unique mutational mechanisms and evolutionary consequences compared to single nucleotide variants. Here we review the history and methods used to study genomic structural variants in animals, including technical challenges of current methods and promising new approaches. We then review case studies to illustrate how large genomic variants can drive interesting evolutionary phenomena. Meanwhile, most studies are limited to specific taxa and there remain many unanswered questions. We conclude that the time is ripe to expand study on genomic structural variants to various non-model species and across taxa by utilizing cutting edge technologies to open a new door in evolutionary genomics.