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隐性的遗传可能性带来重重挑战

低成本测序的出现,提供了一个能够更深入地了解人类遗传变异在健康和疾病中的作用的方法。然而,由于短读长技术的限制,大多数研究仅报道了单核苷酸变异(SNV)和小的插入缺失事件,而遗漏了大的结构变异及其它复杂的基因组元件1。在人类基因组的所有变异碱基中,非SNV的DNA变异占了74%2,并且可能对揭开疾病表型与内在基因型之间的关系至关重要。

人类基因组多样性的最全面视图

单分子实时(SMRT)测序通过无与伦比的读长、均匀的覆盖和出色的准确性,提供了全面获取人类基因组变异的途径。PacBio的单分子长序列可揭开此前隐藏的结构变异,并可获得跨单体型域的直接的变异定相信息。借助PacBio系统,科学家能够对疾病的遗传可能性获得新的认识。

了解SMRT测序如何对人类生物医学研究产生影响

PacBio长读长测序方案应用于人类生物医学研究

结构变异项目计算器

 

将您的结构变异测序项目告知我们,估算在Sequel系统上开展测序所需的时间和材料。


若有意了解SMRT测序如何为人类健康和疾病的遗传基础带来新认识,请联系我们

References

  1. Pang, A., et al., (2014) Performance of high-throughput sequencing for the discovery of genetic variation across the complete size spectrum. G3. 4(1), 63-65.
  1. Levy, S., et al., (2007). The diploid genome sequence of an individual human. PLOS Biology. 5(10), e254.

Selected Resources