Inversion variants in the human genome: role in disease and genome architecture

摘要: Significant advances have been made over the past 5 years in mapping and characterizing structural variation human genome. Despite this progress, our understanding of inversion variants is still very restricted. While unbalanced such as copy number variations can be mapped using array-based approaches, strategies for characterization limited underdeveloped. Traditional cytogenetic approaches long able to identify microscopic events, but discovery submicroscopic events has remained elusive largely ignored. With advent paired-end sequencing it now possible map inversions across Based on studies published date, feasible make a first genome use explore characteristics distribution form variation. The current indicates that many remain identified, especially smaller size ranges. This review provides an overview knowledge about their contribution phenotypes. Further should considered important step towards deeper dynamics.