MRC Laboratory of Molecular Biology, Hills Road, Cambridge CB2 2QH, UK.
J Pathol. 2010 Jan;220(2):297-306. doi: 10.1002/path.2647.
The term 'single-molecule genomics' (SMG) describes a group of molecular methods in which single molecules are detected or sequenced. The focus on the analysis of individual molecules distinguishes these techniques from more traditional methods, in which template DNA is cloned or PCR-amplified prior to analysis. Although technically challenging, the analysis of single molecules has the potential to play a major role in the delivery of truly personalized medicine. The two main subgroups of SMG methods are single-molecule digital PCR and single-molecule sequencing. Single-molecule PCR has a number of advantages over competing technologies, including improved detection of rare genetic variants and more precise analysis of copy-number variation, and is more easily adapted to the often small amount of material that is available in clinical samples. Single-molecule sequencing refers to a number of different methods that are mainly still in development but have the potential to make a huge impact on personalized medicine in the future.
“单分子基因组学”（SMG）这一术语描述了一组分子方法，其中单个分子被检测或测序。与更传统的方法相比，这些技术的重点在于分析单个分子，在更传统的方法中，模板 DNA 在分析之前被克隆或 PCR 扩增。尽管在技术上具有挑战性，但分析单个分子有可能在真正实现个性化医疗方面发挥主要作用。SMG 方法的两个主要子组是单分子数字 PCR 和单分子测序。单分子 PCR 相对于竞争技术具有许多优势，包括提高稀有遗传变异的检测能力和更精确地分析拷贝数变异，并且更容易适应临床样本中通常数量较少的材料。单分子测序是指许多不同的方法，这些方法主要仍在开发中，但有可能对未来的个性化医疗产生巨大影响。
