Department of Medicine, University of Washington, Seattle, WA;
Blood. 2013 Nov 7;122(19):3268-75. doi: 10.1182/blood-2013-07-460287. Epub 2013 Sep 10.
Genomic technologies are becoming a routine part of human genetic analysis. The exponential growth in DNA sequencing capability has brought an unprecedented understanding of human genetic variation and the identification of thousands of variants that impact human health. In this review, we describe the different types of DNA variation and provide an overview of existing DNA sequencing technologies and their applications. As genomic technologies and knowledge continue to advance, they will become integral in clinical practice. To accomplish the goal of personalized genomic medicine for patients, close collaborations between researchers and clinicians will be essential to develop and curate deep databases of genetic variation and their associated phenotypes.
基因组技术正逐渐成为人类遗传分析的常规手段。DNA 测序能力的指数级增长带来了对人类遗传变异的前所未有的理解，并鉴定了数千种影响人类健康的变异。在这篇综述中，我们描述了不同类型的 DNA 变异，并概述了现有的 DNA 测序技术及其应用。随着基因组技术和知识的不断进步，它们将成为临床实践不可或缺的一部分。为了实现患者个体化基因组医学的目标，研究人员和临床医生之间的密切合作对于开发和管理遗传变异及其相关表型的深度数据库至关重要。
