通过大规模并行DNA测序来完成个体的完整基因组
David A Wheeler1, Maithreyan Srinivasan, Michael Egholm
1Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA.
Nature
|April 19, 2008
概括
下一代测序技术已经成功地快速且负担得起地测序了个体的完整双体基因组. 基因组医学的这一突破为个性化基因组测序和对遗传变异的更深入理解铺平了道路.
科学领域:
- 基因组学和个性化医学
- 分子生物学和遗传学分子生物学和遗传学
背景情况:
- 二倍体人类基因组的大小 (大约. 6千兆基) 历史上阻碍了完整的个体基因组测序.
- 核酸技术的进步和理解基因变异在疾病和药物反应中的作用,推动了基因组医学的前景.
研究的目的:
- 为了克服对完整个体人类基因组测序的局限性.
- 通过使用新技术,证明快速,经济高效和全面的双胞胎基因组测序的可行性.
主要方法:
- 在picolitre大小的反应容器中采用了大规模并行测序.
- 詹姆斯·D·沃森的双倍基因组在两个月内被测序为7.4倍冗余.
主要成果:
- 在两个月内获得了完整的双胞胎基因组序列,成本约为传统方法成本的1%.
- 识别了330万个单核酸多态 (SNP),包括10654个编码序列变异.
- 精确检测小规模的插入/删除多态和副本数变异,包括大染色体段的增益/损失.
- 通过避免与细菌克隆相关的DNA损失,获取新的人类序列,包括以前未知的基因.
结论:
- 这项研究代表了使用下一代技术测序的第一个基因组,证明了它的速度,成本效益和全面性.
- 开发的技术克服了以前方法的局限性,使得人们能够更深入地了解个体的遗传构成.
- 这项试点研究为未来在医疗保健中的个性化基因组测序计划奠定了基础.
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