Although James Watson and Francis Crick published the first description of the crystallographic double-helix DNA structure in 1953, 4 it was not until 2 decades later, with the nearly simultaneous development of Maxam-Gilbert and Sanger sequencing, 5, 6 that DNA sequencing became widely available to the research community. Genome sequencing has become synonymous with high-throughput sequencing, but it is instructive to revisit historical milestones. In this review, we will provide a historical perspective on human genome sequencing, summarize current and future sequencing technologies, highlight issues related to data management and interpretation, and finally consider research and clinical applications of high-throughput sequencing, with specific emphasis on cardiovascular disease. To capitalize on the potential of these technologies for research and clinical applications, translational scientists and clinicians must become familiar with a continuously evolving field. These technological advances have facilitated a precipitous drop ( Figure 1) in the cost per base pair of DNA sequenced. Newly developed sequencing instruments now generate hundreds of millions to billions of short sequences per run, allowing for rapid complete sequencing of human genomes. The completion of the human genome project, 1, 2 the development of low-cost, high-throughput parallel sequencing technology, and large-scale studies of genetic variation 3 have provided a rich set of techniques and data for the study of genetic disease risk, treatment response, population diversity, and human evolution. We are in a time of great change in genetics that may dramatically impact human biology and medicine. Customer Service and Ordering Information.Stroke: Vascular and Interventional Neurology.Journal of the American Heart Association (JAHA).Circ: Cardiovascular Quality & Outcomes.Arteriosclerosis, Thrombosis, and Vascular Biology (ATVB).
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