The Challenges of Studying Complex and Dynamic Regions of the Human Genome
The Challenges of Studying Complex and Dynamic Regions of the Human Genome
复制标题
DOI：
10.1007/978-1-61779-507-7_9
复制
发表时间：
2012-01-01
期刊：
影响因子：
--
通讯作者：
Hollox, Edward J.
中科院分区：
文献类型：
--
作者：
Hollox, Edward J.
最近的研究强调，人类基因组不是简单和静态的，而是复杂和动态的。这篇综述的重点是那些特别难以解剖和分析的区域，但却为基因组在进化和疾病过程中如何变化提供了线索。我开始总结最近在理解基因组可变结构方面取得的关键进展，然后讨论一系列方法，这些方法可以让我们更详细地分析这种结构。在最后一部分，我描述了这一领域未来的潜在发展，并提出一个论点，就像我们现在常规地对单核苷酸多态性进行基因分型，并将在不久的将来常规地对基因组进行重新测序一样，我们的目标应该是为我们研究的每个人重新绘制人类基因组。
Recent work has emphasised that the human genome is not simple and static, but complex and dynamic. This review focuses on the regions that are particularly hard to dissect and analyse, yet hold clues to how the genome changes during evolution and disease. I begin by summarising recent key advances in the understanding of the variable structure of our genome, and then I discuss a medley of methods that may allow us to analyse this structure in fine detail. In the final part, I describe potential future developments in this field, and make an argument that, just as we routinely genotype single-nucleotide polymorphisms now and will routinely re-sequence genomes in the near future, we should be aiming to physically re-map the individual human genome for each individual we study.