Computational genetic methods to identify human structural variation using short-read data

从遗传学的角度来看，人类之间的差异相对较小。任何两个个体之间的差异，无论他们的起源多么不同，都只占任何一个人DNA中存储的总遗传内容的一小部分。但确实存在的变异是重要的：其中一些变异不仅影响大小或形状等物理特征，还影响疾病易感性或遗传疾病风险的差异。直到最近，研究DNA序列中非常短长度尺度的遗传变异才是可行的。现在，一种新的技术可以更快地阅读DNA，而且成本比以前低得多。这使得我们有可能开始对来自世界各地的数百个个体的所有类型的变异进行全面研究。分析这项研究产生的数据将需要强大而复杂的计算技术。我们的研究将发展和完善这些技术，并将使用它们来发现塑造人类进化的一些因素。我们将研究人类DNA序列如何以不同的方式受到我们所居住的环境，我们面临的威胁以及我们共同的祖先的影响。

In genetic terms, there is relatively little variation between humans. The differences between any two individuals, regardless of how diverse their origins, count for only a small fraction of the total genetic content stored in the DNA of either one. But the variation that does exist is important: some of it affects not only physical characteristics like size or shape, but also differences in disease susceptibility or the risk of genetic disorders.Until recently, it has only been feasible to study genetic variation at very short length scales within the DNA sequence. Now a new technology is becoming available for reading DNA much more quickly and at much less cost than before. This has made it possible to begin a comprehensive study of all types of variation amongst hundreds of individuals from all around the world.Analysing the data produced in this study will require powerful and sophisticated computing techniques. Our research will develop and refine these techniques, and will use them to make discoveries about some of the factors that have shaped human evolution. We will investigate how the human DNA sequence has been affected in different ways by the environments we inhabit, the threats we face, and the ancestors we share.