Nature Genetics presents a special issue, Structural Variation in the Human Genome, comprised of one commentary and seven perspectives exploring recent discoveries and future prospects in the rapidly growing field of structural genomic variation. As well as comprehensive overviews of this burgeoning area, the articles also propose standards and guidelines for future research. Access this special issue FREE online.
From the earliest cytogenetic studies, it was recognized that losses or gains of entire chromosomes or microscopically visible alterations involving very large chromosomal segments were the cause of several common developmental disorders, including Down’s syndrome. Beginning in the early 1990s, it also became apparent that submicroscopic gains or losses of specific chromosomal segments were a recurrent cause of many other rare genetic diseases. What was generally unappreciated, up until a few years ago, was the extent to which focal variation in DNA copy number contributed to the range of normal sequence variation among apparently healthy individuals.
In this issue, we present a collection of eight commissioned pieces highlighting recent advances in the field. We hope you enjoy this fresh glimpse into the exciting realm of human genomic structural variation.