Ion Torrent™ 新一代测序法全基因组测序

全基因组测序用于读取生物体的完整 DNA 序列。此测序方法已用于解决广泛的科学问题,如与遗传性疾病、癌症、传染性疾病、产前基因学等相关的问题。Ion Torrent™ 新一代测序特别适合对不同大小和复杂程度的种属进行全基因组测序。


快速、经济的微生物全基因组测序方法演变发展,已经成为促进疾病监控期间快速响应、调查疾病疫情、测定疾病病因的关键因子。Ion Torrent™ 新一代测序的功能可用于区分密切相关的菌株,实时跟踪疾病相关的隔离对象发展情况,以难以置信的速度快速确定爆发菌株。


专注于检测非整倍性——染色体数目异常——的研究人员采用 Ion PGM™ 系统从单个细胞进行全基因组扩增,并采用 Ion Reporter™ 软件进行低通拷贝数分析。此应用比微阵列或人类染色体核型分型分析更快,且可对样本进行多重分析,为研究人员提供了可以在一天内交付精确数据的灵活、经济平台。


全基因组测序还用于揭示从头突变对于散发性和遗传性疾病的影响,提供了解读癌症复杂性的视角,可以发现新基因及肿瘤发生、发展和迁移过程中表现出的生物学路径。全基因组测序还可提供我们这个星球过往的基因概况—例如,揭示已经灭绝物种(如,尼安德特人和猛犸象)的基因组序列。采用 Ion Torrent™ 半导体技术进行的快速、经济的全基因组测序,有助于推动通过全基因组测序解决很多其他科学难题。

Whole genome sequencing is used to read the complete DNA sequence of an organism. It has been applied to a wide range of scientific questions, such as those related to the study of inherited diseases, cancer, infectious diseases, prenatal genetics, and much more. Ion Torrent™ next-generation sequencing is ideal for whole genome sequencing of species of various sizes and complexities.


Microbial Genome Sequencing

The evolution of fast, affordable whole genome sequencing of microbes has been critical for facilitating a rapid response during disease surveillance, for investigating disease outbreaks, and for determining disease etiology. The power of Ion Torrent™ next-generation sequencing can be used to discriminate between closely related strains and to track the evolution of disease-associated isolates in real time, offering the possibility of incredibly fast identification of outbreak strains.

Human-Scale Low-Coverage Genome Aneuploidy Assessment

Researchers focusing on detecting aneuploidy—abnormal chromosome numbers—can use the Ion PGM™ System with whole genome amplification from a single cell and low-pass copy number analysis with Ion Reporter™ Software. This application is faster than microarray or karyotyping analysis and enables multiplexing of samples, offering researchers a flexible and less expensive platform that can deliver accurate data in a single day.

Human-Scale Deep Genome Sequencing

Whole genome sequencing has also been used to uncover the role of de novo mutations in sporadic and inherited diseases, to provide insights into the complexity of cancer, and to identify new genes and biological pathways implicated in tumor initiation, progression, and metastasis. Whole genome sequencing has also provided a glimpse into our planet's genetic past—for example, by uncovering the genome sequences of extinct species such as Neanderthal man and the woolly mammoth. Fast, affordable human-scale genome sequencing using Ion Torrent™ semiconductor technology will help accelerate the application of whole genome sequencing to many additional scientific questions.