重点内容带来了经济实惠的测序
- 关注感兴趣的区域,生成更小、更容易管理的数据集
- 降低测序成本和数据分析的负担
- 与范围更广的方法相比加快了周转时间
- 以高覆盖度水平实现了深度测序，适合稀有变异的鉴定
与范围更广的方法相比，如全基因组测序，靶向测序是一种更加经济高效的方法，可研究感兴趣的区域。靶向重测序让研究人员能够将重点放在那些最有可能参与所研究的表型的区域，从而节省资源，并生成更小、更容易管理的数据集。靶向方法还能带来更高的覆盖度水平，从而鉴定那些稀有变异或对全基因组或桑格测序来说太过昂贵的变异。
靶向重测序的好处
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。
概述
靶向重测序涉及到从样品文库中分离出感兴趣的基因组区域，以实现生殖系和体细胞变异的经济、系统检测。Illumina提供了一系列靶向重测序解决方案，以支持各种新一代测序（NGS）研究设计，从靶向基因panel，到扩增子及其他区域，再到整个外显子组。
Affordable Sequencing With Focused Content
- Focuses on regions of interest, generating a smaller, more manageable data set
- Reduces sequencing costs and data analysis burdens
- Reduces turnaround time compared to broader approaches
- Enables deep sequencing at high coverage levels for rare variant identification
Compared to broader approaches, such as whole-genome sequencing, targeted sequencing is a more cost-effective method for investigating areas of interest. Targeted resequencing enables researchers to focus on regions that are most likely to be involved in the phenotype under study, conserving resources and generating a smaller, more manageable data set. Targeted approaches can also deliver much higher coverage levels, allowing identification of variants that are rare and more expensive with whole-genome or Sanger sequencing.
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.
Condition Screening
Sequencing genes with known involvement in certain conditions, such as autism or cardiovascular diseases, can detect the variants associated with inherited disorders. NGS could help reduce research costs and shorten the time to answer compared to traditional, iterative approaches. Learn more about inherited condition screening.
Genetic 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.
NGS for 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 for drug development.
Forensic Genomics
Targeted sequencing of the genes used for human identification can inform forensic DNA testing and deliver more conclusive results for criminal casework, missing persons cases, or disaster victim identification. Learn more about forensic genomics.
16S rRNA Sequencing
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.
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。
特色文献
Somatic mutations in cerebral cortical malformations.
N Engl J Med 371 733-43 2014
Massively parallel multiplex DNA sequencing for specimen identification using an Illumina MiSeq platform.
Sci Rep 5 9687 2015
Identification of minority resistance mutations in the HIV-1 integrase coding region using next generation sequencing.
J Clin Virol 73 95-100 2015
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Additional Resources
Targeted Sequencing for HIV Studies
Researchers used targeted resequencing to detect minor variants associated with human immunodeficiency virus (HIV) tropism.
Transitioning from TruSeq Custom Amplicon
Our detailed guide is designed to help you transfer projects from TruSeq Custom Amplicon to AmpliSeq for Illumina panels.
AmpliSeq for Illumina on the iSeq 100 System
Find step-by-step guidance designed to help you transition your workflows to AmpliSeq for Illumina panels on the iSeq 100 System.