靶向重测序简介
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。使用新一代测序（NGS）的靶向方法让研究人员能够将时间、费用和数据分析集中在感兴趣的特定区域。这种靶向分析包括外显子组（基因组的蛋白质编码部分）、感兴趣的特定基因（定制内容），以及基因或线粒体DNA中的目标。
靶向重测序的优势
靶向重测序比以往任何时候都更简单、更触手可及。了解如何获得靶向NGS的聚焦功能。
靶向重测序
经济高效的靶向测序，专注于重点区域
- 专注于感兴趣的区域，生成更小且更易于管理的数据集
- 降低了测序成本和数据分析负担
- 与更广泛的方法相比，缩短了周转时间
- 能够实现高覆盖度的深度测序，用于罕见变异的识别
与全基因组测序等更广泛的方法相比，靶向测序是一种更具成本效益的用于研究感兴趣区域的方法。靶向重测序使研究人员能够专注于最有可能与研究表型相关的区域，从而节省资源并生成更小、更易于管理的数据集。此外，靶向方法还可以提供更高的覆盖度，从而能够识别那些在全基因组测序或桑格测序中成本较高且难以检测到的罕见变异。
Targeted Resequencing Applications
Cancer Gene Sequencing
Targeted sequencing studies focus on a select set of genes or gene regions that have known associations with cancer. The deep coverage offered by targeted resequencing allows for higher sensitivity to call variants in rare tumor subclones accurately. Learn more about targeted cancer sequencing.
Rare Disease Targeted Sequencing
Targeted sequencing is a relatively inexpensive technique that interrogates known disease-causing genes. It is most effective for rare disease analysis when a specific condition or disease state is suspected. Learn more about rare disease targeted sequencing.
Complex Disease Research
Mendelian disorders can result from rare genetic variants. Exome sequencing allows targeted exploration of protein-coding regions of the genome to identify the rare variants that contribute to complex genetic diseases. Learn more about complex disease genomics.
Drug Development
In the future, targeted sequencing might be used to validate drug targets and confirm variants of interest for cancer treatment and other therapeutics. Learn more about NGS in drug development.
Mitochondrial Disease Research
Targeted NGS enables researchers to identify and analyze variants associated with mitochondrial disorders. Learn more about mitochondrial sequencing.
Bacterial Identification
Sequencing the bacterial 16S ribosomal RNA gene is a common amplicon sequencing method used to identify and compare bacteria present within a given sample. It is useful for studying complex microbiomes or environmental samples. Learn more about 16S rRNA sequencing.
Environmental DNA Sequencing
Environmental DNA (eDNA) sequencing is a rapidly emerging method for studying biodiversity and monitoring ecosystem changes. Learn more about eDNA sequencing.
靶向测序的特色流程：定制扩增子测序
这种重要方法利用PCR扩增子的超深度测序来靶定特定的基因组区域。
内容选择
DesignStudio Software工具
这个在线工具可以轻松地优化目标区域的覆盖度。
AmpliSeq for Illumina Custom DNA Panel
创建针对感兴趣的内容进行优化的定制靶向测序panel。
文库制备
Illumina DNA Prep with Enrichment
一种快速、集成化的文库制备工作流程，适用于广泛的应用场景，提供基于定制化和固定化面板的靶向重测序。
Illumina Cell-Free DNA Prep with Enrichment
Illumina Cell-Free DNA Prep with Enrichment快速、灵活的文库制备，用于从cfDNA样本中进行高灵敏度的突变检测。
测序
NextSeq 550 测序仪
一种具有成本效益的解决方案，适用于多种应用，整合了芯片扫描和桌面式测序。
NextSeq 1000和2000测序仪
通过快速、稳健的性能、机载信息学和XLEAP-SBS化学技术，提升通量。
NovaSeq X系列
我们最强大的测序仪，专为超高通量项目设计，每个流动槽可提供高达16Tb的输出量和26B条单端测序读长。
数据分析
DRAGEN Enrichment App
一种针对靶向测序面板的高精度、高效端到端的二级分析解决方案。
DRAGEN Somatic
能够检测低频等位基因的体细胞变异，具有高灵敏度。
DRAGEN Germline
高精度检测广泛类型的遗传变异。
更多资源
Germline CNV Analysis
查看使用 Illumina DNA Prep 与 Exome 2.5 Enrichment的从文库制备到获得见解的简化外显子组测序工作流程，用于生殖细胞系拷贝数变异（CNV）分析。