Bai Xiaopeng, Edwards John, Ju Jingyue
Columbia University, Department of Chemical Engineering, NY 10027, USA.
Expert Rev Mol Diagn. 2005 Sep;5(5):797-808. doi: 10.1586/14737159.5.5.797.
High-throughput DNA sequencing development for mutation screening and identification is essential to realize the goal of pharmacogenomics and personalized medicine, which will lead to a new era in clinical medicine and healthcare. Molecular engineering approaches to modify the building blocks of DNA by introducing functional groups for purification and detection has led to the development of high-throughput genetic analysis technologies. This review is focused on the following two DNA sequencing approaches. The first approach is based on the use of molecular affinity and mass spectrometry to perform quick and highly accurate mutation screening, heterozygote identification and insertion/deletion detection. The second approach is based on a sequencing-by-synthesis platform that has the potential for generating DNA sequencing data in a massive, parallel manner. The basic principles, fundamental challenges and methods of implementation of these exciting new technologies will be discussed.
开发用于突变筛查和鉴定的高通量DNA测序技术对于实现药物基因组学和个性化医疗的目标至关重要,这将引领临床医学和医疗保健进入一个新时代。通过引入用于纯化和检测的官能团来修饰DNA构建模块的分子工程方法推动了高通量基因分析技术的发展。本综述聚焦于以下两种DNA测序方法。第一种方法基于利用分子亲和力和质谱进行快速且高度准确的突变筛查、杂合子鉴定以及插入/缺失检测。第二种方法基于合成测序平台,该平台有潜力以大规模并行方式生成DNA测序数据。将讨论这些令人兴奋的新技术的基本原理、主要挑战和实施方法。