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瞄准关键的基因组区域

靶向测序针对最相关的基因组区域来采集数据,可优化资源。然而,若您所需的信息未被捕获,那么它既不省时,又不省钱。当靶向区域容易发生结构变异时,基因内的同聚片段、重复元件或短串联重复序列(STR)会对短读长方法造成干扰。同样,利用短读取序列来重建单体型也依赖于推测,并非总是可靠的——特别是存在结构变异或新生突变时1

解析人类疾病背后的复杂基因组学

用PacBio长读取开展靶向测序,能够以单分子的分辨率观察与人类疾病相关的基因组区域,进而获得覆盖多态性或重复区域的连续序列数据,以及复杂混合物的深度信息。这些读取序列不仅提供了独立的从头组装方案,还解决了短读长数据集的模棱两可问题。

单分子实时(SMRT)测序可实现广泛的应用,让您能够:

  • 明确定相整个基因的多态性
  • 测序基因内的STR及其它低复杂度的区域
  • 精确检测常见或新生的结构变异并定位断裂点
  • 全面表征多克隆样本中的少数变异

工作流程:从靶向区域到准确的变异或单体型

 

 

文库制备

 

 

利用PacBio系统开展SMRT测序

  • 达到每个Sequel SMRT Cell 1M约10kb的平均读长和高达20 Gb产量(产量会根据插入片段长度和混合物中模板的复杂程度变化)
  • 对大于2.5 Kb的插入片段,用长拍摄时间(长达20小时)增加通量
    • 适用于每个SMRT Cell增加到多达2000个扩增子(2.5到6kb)的多重化反应
    • 当使用基于探针杂交的方法时,用仅仅75倍的覆盖度获得高质量的定相SNP信息
  • 针对复杂群体解析,通过对单一环化模板的多次测序产生单分子一致性准确率(QV30)
 

利用SMRT AnalysisPacBio DevNet进行数据分析

 

特色研究:瞄准Potocki-Lupski综合征中的结构变异

Targeted-Sequencing.Spotlight “有意思的是,在检测所有剪接位点时,5个断裂点中的3个导致Alu- Alu嵌合体,这很难通过短读长检测出来。此外,在123名PTLS(Potocki-Lupski综合征)患者队列中,大约60%的非复发性重排的LCR(低拷贝重复)中有一个或多个断裂点2”。深入了解这项研究。

Wang, M., et al., (2015) PacBio-LITS: a large-insert targeted sequencing method for characterization of human disease-associated chromosomal structural variations. BMC Genomics. 16, 214.

若有意了解如何利用SMRT测序获取全面的遗传变异,请联系我们


References

  1. Willems, T., et al., (2014) The landscape of human STR variation. Genome Research. 24(11), 1894-1904.

Selected Resources