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。
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.
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.
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.
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.
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.
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.
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
