Applications of second generation sequencing technologies in complex disorders.
Applications of second generation sequencing technologies in complex disorders.
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DOI：
10.1007/7854_2011_196
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发表时间：
2012-01-01
影响因子：
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通讯作者：
Gut, Ivo Glynne
中科院分区：
文献类型：
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作者：
Bayes, Monica;Heath, Simon;Gut, Ivo Glynne
第二代测序（2ndGS）技术以非常快的速度和相对有限的成本产生前所未有的序列数据，使人类基因组序列在几周内完成。其原理是利用核苷酸延伸的迭代循环，从扩增的单个DNA片段中产生数百万个相对较短的reads。然而，这种规模产生的数据在解释、数据分析和数据管理方面提出了新的挑战。ndgs技术正在普及，并对生物医学研究产生了深远的影响。常见的应用包括全基因组测序、靶标重测序、结构和拷贝数变异的表征、表观遗传修饰的分析、转录组测序和感染因子的鉴定。目前正在开发新的方法和仪器，这些方法和仪器可以在不到一天的时间内以不到1000美元的成本对整个人类基因组进行测序。
Second generation sequencing (2ndGS) technologies generate unprecedented amounts of sequence data very rapidly and at relatively limited costs, allowing the sequence of a human genome to be completed in a few weeks. The principle is on the basis of generating millions of relatively short reads from amplified single DNA fragments using iterative cycles of nucleotide extensions. However, the data generated on this scale present new challenges in interpretation, data analysis and data management. 2ndGS technologies are becoming widespread and are profoundly impacting biomedical research. Common applications include whole-genome sequencing, target resequencing, characterization of structural and copy number variation, profiling epigenetic modifications, transcriptome sequencing and identification of infectious agents. New methodologies and instruments that will enable to sequence the complete human genome in less than a day at a cost of less than $1,000 are currently in development.