利用靶向重测序,可将一组基因或基因组区域分离出来并对其进行测序。目标富集的工作原理是通过与目标特异性生物素标记的探针进行杂交来捕获感兴趣的基因组区域,然后再通过磁拉下(pulldown)进行分离。
Illumina DNA Prep with Enrichment是新一代测序(NGS)目标富集解决方案的最新技术。通过将微珠连接的转座子组介导的酶法片段化测序化学技术与杂交捕获目标富集相结合,研究人员可以缩短工作流程时间,并为目标富集重测序生成准确可靠的分析结果。
基于杂交的富集是用于分析给定样本中的特定遗传变体的有用策略。
目标富集使研究人员能够使用可靠简单的工作流程对外显子组或大量基因(例如大于50个基因)进行可靠地测序。针对各种不同的起始类型和起始量,目标富集都可提供可靠的结果。其用途包括:
基于杂交捕获的目标富集使研究人员能够靶向与其特定研究兴趣相关的基因组区域。靶向重测序的发现能力(鉴定新型变异的能力)和突变分辨率比PCR和桑格测序更高。
与基于PCR的扩增子测序相比,基于杂交的富集测序可以靶向更大量的总基因内容,并且更全面地分析所有变异类型。更大量的总基因内容可在与发现有关的应用中对已知变异和新型变异进行表征。
目标富集 | 扩增子测序 |
基因内容较大,通常大于50个基因 | 基因内容较小,通常小于50个基因 |
更全面地分析所有变异类型 | 非常适合分析单核苷酸位点变异和插入/缺失 |
方法更全面,但手动操作时间和周转时间更长** | 工作流程更经济、更简便 |
* Illumina 2018年存档数据。
**周转时间为文库制备分析时间(DNA到完成文库)。
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