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对感兴趣的靶点进行测序

靶向测序是一种可提高变异发现与检测成本效益的强大方法。您需要完整且均匀地覆盖整个感兴趣的区域,以获得对相关靶点的整体全局视图。不幸的是,短读长测序数据容易产生错误比对,且往往不能跨越重复区域。此外,PCR带来的偏倚可能造成富含GC的区域在检出变异时的覆盖度不足1

获取所有的遗传变异

单分子实时(SMRT)测序结合了单分子检测、长读长测序以及最低程度的偏倚,可以全面表征遗传复杂性——包括结构变异、稀有的SNP、插入缺失、拷贝数变化、微卫星、单体型和定相。通过PacBio系统上的靶向测序,您不只限于对SNP进行简单收录,而是获取相关基因组区域的各种类型的变异,包括低复杂度的区域,如重复扩展、启动子和转座元件的侧翼区域。

 

PacBio测序可击中被其它方法错过的靶点

研究聚焦:基因和转录本的等位基因来源

阿尔茨海默病(AD)的遗传病因很复杂。本次在线研讨会详细介绍了一种基于探针的靶向富集策略,它让科学家能够全面鉴定基因、相应的剪接异构体和相关的等位基因。利用一组针对35个AD候选基因的探针来确定它们的遗传图谱,从而证明这种方法的效力。

若有意深入了解所有遗传变异的评估,请联系我们

 References

  1. Carneiro, M. O. et al., (2012) Pacific Biosciences sequencing technology for genotyping and variation discovery in human data. BMC Genomics. 13, 375.

Selected Resources