Hollox Edward J, Barber John C K, Brookes Anthony J, Armour John A L
Department of Genetics, University of Leicester, Leicester LE1 7RH, United Kingdom.
Genome Res. 2008 Nov;18(11):1686-97. doi: 10.1101/gr.080945.108.
Over the past four years, genome-wide studies have uncovered numerous examples of structural variation in the human genome. This includes structural variation that changes copy number, such as deletion and duplication, and structural variation that does not change copy number, such as orientation and positional polymorphism. One region that contains all these types of variation spans the chromosome band 8p23.1. This region has been studied in some depth, and the focus of this review is to examine our current understanding of the variation of this region. We also consider whether this region is a good model for other structurally variable regions in the genome and what the implications of this variation are for clinical studies. Finally, we discuss the bioinformatics challenges raised, discuss the evolution of the region, and suggest some future priorities for structural variation research.
在过去四年中，全基因组研究发现了人类基因组中大量结构变异的例子。这包括改变拷贝数的结构变异，如缺失和重复，以及不改变拷贝数的结构变异，如方向和位置多态性。一个包含所有这些变异类型的区域跨越染色体带8p23.1。该区域已得到一定程度的深入研究，本综述的重点是审视我们目前对该区域变异的理解。我们还会思考该区域是否是基因组中其他结构可变区域的良好模型，以及这种变异对临床研究有何影响。最后，我们讨论所提出的生物信息学挑战，探讨该区域的进化，并提出结构变异研究未来的一些优先事项。
