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癌症基因组学全貌

低成本的测序已经实现了广泛的癌症基因组队列研究。对于许多类型的癌症,这些研究获得了在许多癌症类型中突变情况和常见的癌基因单核苷酸变异(SNV)的扩展目录。然而,癌症基因组还包括大规模的结构变异,如大的插入、缺失、倒位、重复、易位和基因融合,这些都有可能成为驱动突变。癌症基因组中的大多数变异还没有研究清楚,而我们对癌症进展和治疗结果与内在的基因型有何关联的认识还存在空白1

 

 

PacBio带来了癌症基因组复杂性的最完整视图

单分子实时(SMRT)测序能够获取基因、转录本和全基因组中各种大小的遗传变异,从而推动了癌症研究的发现。利用Sequel系统超长读长和高一致性序列准确性,科学家能够:

研究聚焦:Iso-Seq方法揭示前列腺癌的受体活性

雄激素受体亚型的靶向SMRT测序表明, AR-V9结构之前被错误表征了,忽略了一个被认为仅出现在AR-V7中的神秘外显子。AR-V7曾被认为是耐药性的潜在生物标志物,但knock-down实验实际上针对了两种亚型,这使得之前的研究需要重新解释。最新的数据表明,AR-V9可能是更有预测性的亚型。深入了解这项研究,进一步学习Iso-Seq方法

Kohli, M. et al., 2017. Androgen receptor variant AR-V9 is co-expressed with AR-V7 in prostate cancer metastases and predicts abiraterone resistance. Clinical Cancer Research, ePub ahead of print.

若有意了解如何运用SMRT测序推动您的癌症探索研究,请联系我们

 

References

  1. Vogelstein, B., et al., (2013) Cancer Genome Landscapes. Science. 339(6127), 1546-1558.
  2. McCombie, W. R. (2015, February) PacBio long read sequencing and structural analysis of a breast cancer cell line, Presented at PacBio Workshop during Advances in Genome Biology and Technology. Marco Island, FL.

 

Selected Resources