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检出所有变异类型

结构变异是两个人类基因组之间碱基差异中最多的变异,往往会引起许多遗传性疾病。在这个精准医疗的时代,除了需要检测较小的单核苷酸变异和插入缺失,研究结构变异的能力对了解遗传变异如何影响健康和疾病也至关重要。

两个人类基因组之间的变异,按受影响的碱基对数量来分——单核苷酸变异(SNV);不足50 bp的插入和缺失(indel);以及超过50 bp的结构变异。深入了解这项研究。

 

强大的变异发现能力,不需要完全组装

单分子实时(SMRT)测序能够利用低覆盖度的长读长全基因组测序来发现结构变异(SV)。凭借高一致性序列准确性、均匀的覆盖和低错误率,SMRT测序的从头组装让科学家能够:

  • 检测所有类型和长度的新的结构变异,且分辨率达单个碱基
  • 以高出其它技术五倍的灵敏度检测结构变异
  • 将结构变异和单核苷酸变异定相到等位基因特异的单倍域
  • 靶定复杂区域并解析等位基因插入缺失、拷贝数变异和假基因,以定位致病变异和破译疾病的遗传病因

PacBio的结构变异覆盖范围
插入缺失重复
易位倒位串联重复

 

 

 

 

 

研究聚焦:利用PacBio长读长测序来发现结构变异

探索人类的遗传变异,并了解SMRT测序如何揭示所有的结构变异,从而促进我们对遗传病的了解,拓宽我们对人类多样性的认识。

信息图:结构变异与疾病

 

了解人类基因组变异的类型以及目前已知的由结构变异引起的疾病。

 

下载信息图

白皮书:人类基因组中的结构变异

 

了解长读长测序如何实现各种结构变异的检测,并推动人类疾病、进化和遗传多样性的研究。

 

下载白皮书

结构变异项目计算器

 

了解我们的结构变异项目计算器,并估计利用Sequel系统开展PacBio测序所需的时间和材料。

 


工作流程:从DNA到结构变异的检测

文库制备

 

 

利用 PacBio系统 开展SMRT测序

  • 实现约10 kb的平均读长,且每个Sequel SMRT Cell 1M的产量约为7.5 Gb
  • 可根据项目需求来扩大或缩小通量
    • 5-10倍的覆盖度:适用于群体遗传学研究
    • 10倍的覆盖度:适用于未确诊的疾病研究
    • >高于20倍的覆盖度:适用于检测家系中的新生结构变异
 

 

 

利用SMRT AnalysisIGV 开展数据分析

  • 以最高的灵敏度检测所有类型的结构变异
  • 使用pbsv支持的SMRT Link Structural Variant Calling
  • 生成SV检出(VCF)和比对读取序列(BAM)
  • 利用IGV对结构变异进行可视化

深入了解 全基因组测序在结构变异检测上的最佳范例

 

教程:PacBio Structural Variant Calling

本教程介绍了SMRT Link中的Structural Variant Calling应用程序,生动演示了如何在SMRT Link中启动分析和解释结果。此应用程序利用全基因组序列数据,鉴定出样本中相对于参考序列的大的(默认:≥50 bp)插入缺失。

研究聚焦:斯坦福科学家利用PacBio全基因组测序来鉴定致病突变

Sequel系统生成的8倍覆盖度的长读长序列数据帮助科学家发现了PRKAR1A基因中一个2.2 kb的缺失,此基因与Carney综合征相关。早前的临床单基因检测和短读长全基因组测序无法检测到这个致病变异。 深入了解这项研究。

Merker, J.D. et al., 2017. Long-read genome sequencing identifies causal structural variation in a Mendelian disease. Genetics in Medicine, ePub Ahead of Print.

研究聚焦:利用长读长检测最全面的结构变异

Michael Schatz博士强调,与其它的技术相比,PacBio长读长测序具有鉴定更多类型的结构变异的能力,包括长串联重复扩展。深入了解:

Schatz, M., 2017. AGBT Conference: Personalized phased diploid genomes of the EN-TEx samples. Advances in Genome Biology and Technology.

若有意了解SMRT测序如何分辨结构变异,请联系我们

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