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。
测序
iSeq 100测序仪
具有经济实惠，快速且触手可及的测序能力，可在任何实验室进行靶向或小型基因组测序。
MiniSeq测序仪
支持多种靶向DNA和RNA应用。
MiSeq i100系列测序仪
易于使用的桌面式系统，操作简便，当天提供准确的结果。
数据分析
Local Run Manager (DNA Amplicon Analysis Module)
一种本地部署的软件解决方案，用于创建测序运行、监控运行状态以及分析数据。
DNA Amplicon App (在BaseSpace Sequence Hub上)
提供简化的扩增子面板变异检测。
