Russian Research Centre Kurchatov Institute;
Acta Naturae. 2009 Oct;1(3):102-7.
At present, the new technologies of DNA sequencing are rapidly developing allowing quick and efficient characterisation of organisms at the level of the genome structure. In this study, the whole genome sequencing of a human (Russian man) was performed using two technologies currently present on the market - Sequencing by Oligonucleotide Ligation and Detection (SOLiD™) (Applied Biosystems) and sequencing technologies of molecular clusters using fluorescently labeled precursors (Illumina). The total number of generated data resulted in 108.3 billion base pairs (60.2 billion from Illumina technology and 48.1 billion from SOLiD technology). Statistics performed on reads generated by GAII and SOLiD showed that they covered 75% and 96% of the genome respectively. Short polymorphic regions were detected with comparable accuracy however, the absolute amount of them revealed by SOLiD was several times less than by GAII. Optimal algorithm for using the latest methods of sequencing was established for the analysis of individual human genomes. The study is the first Russian effort towards whole human genome sequencing.
目前，DNA 测序的新技术正在迅速发展，使得在基因组结构水平上对生物体进行快速而有效的特征描述成为可能。在这项研究中，使用目前市场上的两种技术对一名俄罗斯男性的全基因组进行了测序——寡核苷酸连接和检测测序（SOLiD™）（Applied Biosystems）和使用荧光标记前体的分子簇测序技术（Illumina）。生成的数据总数达到了 1083 亿个碱基对（602 亿个来自 Illumina 技术，481 亿个来自 SOLiD 技术）。在 GAII 和 SOLiD 生成的读取上进行的统计显示，它们分别覆盖了基因组的 75%和 96%。短的多态性区域的检测具有相当的准确性，然而，通过 SOLiD 揭示的绝对数量要比 GAII 少几倍。针对个体人类基因组分析，建立了使用最新测序方法的最佳算法。该研究是俄罗斯首次进行全人类基因组测序的尝试。
