Department of Cell and Molecular Biology, Karolinska Institutet, SE-171 77, Stockholm, Sweden.
Annu Rev Biochem. 2012;81:359-78. doi: 10.1146/annurev-biochem-060410-094158. Epub 2012 Mar 20.
Today, resequencing of a human genome can be performed in approximately a week using a single instrument. Thanks to a steady logarithmic rate of increase in performance for DNA sequencing platforms over the past seven years, DNA sequencing is one of the fastest developing technology fields. As the process becomes faster, it opens up possibilities within health care, diagnostics, and entirely new fields of research. Immediate genetic characterization of contagious outbreaks has been exemplified, and with such applications for the direct benefit of human health, expectations of future sensitive, rapid, high-throughput, and cost-effective technologies are steadily growing. Simultaneously, some of the limitations of a rapidly growing field have become apparent, and questions regarding the quality of some of the data deposited into databases have been raised. A human genome sequenced in only an hour is likely to become a reality in the future, but its definition may not be as certain.
如今，使用单一仪器，大约一周即可完成人类基因组重测序。得益于过去七年来 DNA 测序平台性能呈稳定对数级增长，DNA 测序是发展最快的技术领域之一。随着测序过程变得更快，它在医疗保健、诊断和全新的研究领域开辟了各种可能性。即时遗传特征传染性爆发已得到例证，并且由于这些应用直接有益于人类健康，人们对未来敏感、快速、高通量和具有成本效益的技术的期望正在稳步增长。与此同时，快速发展领域的一些局限性已经显现出来，并且对一些存入数据库的数据的质量提出了质疑。在未来，一个小时内完成人类基因组测序可能会成为现实，但它的定义可能并不确定。
