相比于SNVs和indels，SVs往往涉及更大范围的基因组重排，可能会影响到多个基因及其调控区域。以往的基因组研究大多集中于研究单个碱基的变异，如SNVs，它们与疾病的关系早已得到了大量的证实。然而，结构变异由于其较低的发生频率和复杂的遗传模式，长期以来在功能性研究中被忽视。研究表明，SVs在许多复杂疾病，尤其是癌症中扮演着至关重要的角色。例如，肿瘤的发生往往伴随着基因组的广泛重排，这些重排可能 ...

Unless you’ve been hiding under a rock for the past few years, you know next-generation DNA sequencing is all the rage. The technique has gone from gee-whiz to practically routine in the five years ...

Microarray platforms provide a method for 'global' ChIP analysis, but direct sequencing of enriched fragments has proven a more effective means for determining locations of DNA-binding proteins ...