Mardis Elaine R
Department of Genetics and Molecular Microbiology and Genome Sequencing Center, Washington University School of Medicine, St. Louis MO 63108, USA.
Annu Rev Genomics Hum Genet. 2008;9:387-402. doi: 10.1146/annurev.genom.9.081307.164359.
Recent scientific discoveries that resulted from the application of next-generation DNA sequencing technologies highlight the striking impact of these massively parallel platforms on genetics. These new methods have expanded previously focused readouts from a variety of DNA preparation protocols to a genome-wide scale and have fine-tuned their resolution to single base precision. The sequencing of RNA also has transitioned and now includes full-length cDNA analyses, serial analysis of gene expression (SAGE)-based methods, and noncoding RNA discovery. Next-generation sequencing has also enabled novel applications such as the sequencing of ancient DNA samples, and has substantially widened the scope of metagenomic analysis of environmentally derived samples. Taken together, an astounding potential exists for these technologies to bring enormous change in genetic and biological research and to enhance our fundamental biological knowledge.
应用新一代DNA测序技术所带来的近期科学发现,凸显了这些大规模平行平台对遗传学的显著影响。这些新方法已将此前各种DNA制备方案中集中的读数扩展到全基因组规模,并将其分辨率微调至单碱基精度。RNA测序也已发生转变,现在包括全长cDNA分析、基于基因表达系列分析(SAGE)的方法以及非编码RNA的发现。新一代测序还促成了如古代DNA样本测序等新应用,并大幅拓宽了对环境来源样本的宏基因组分析范围。总体而言,这些技术有着巨大的潜力,能给遗传和生物学研究带来巨大变革,并增进我们的基础生物学知识。