Bayés Mònica, Heath Simon, Gut Ivo Glynne
Centro Nacional de Análisis Genómico, C/Baldiri Reixac 4, 08028, Barcelona, Spain,
Curr Top Behav Neurosci. 2012;12:321-43. doi: 10.1007/7854_2011_196.
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.
第二代测序（2ndGS）技术能够非常快速地以相对有限的成本生成前所未有的大量序列数据，使得人类基因组序列能够在几周内完成。其原理是基于使用核苷酸延伸的迭代循环从扩增的单个DNA片段生成数百万个相对较短的读段。然而，这种规模生成的数据在解读、数据分析和数据管理方面带来了新的挑战。第二代测序技术正在广泛应用，并对生物医学研究产生深远影响。常见应用包括全基因组测序、目标重测序、结构和拷贝数变异的表征、表观遗传修饰分析、转录组测序以及感染因子鉴定。目前正在研发新的方法和仪器，这些方法和仪器将能够在不到一天的时间内以低于1000美元的成本对完整的人类基因组进行测序。
