Diaw Lena, Youngblood Victoria, Taylor James G
Pulmonary and Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA.
Methods Mol Biol. 2013;1027:157-79. doi: 10.1007/978-1-60327-369-5_7.
The identification of new genomic paradigms in lipoprotein and cardiovascular diseases will be accelerated by the application of the recent technological advances in nucleic acid sequencing. Presently, large-scale genomics facilities are equipped to accomplish this objective with a combination of "next-generation" DNA sequencing chemistries, largely focused on assembling massively parallel sequence reads corresponding to complete genes, entire exomes, or whole genomes from populations of individuals. In the future, individual laboratories will also use this emerging technology for focused genomic studies with the use of a combination of next-generation sequencing and automated Sanger sequencing. In particular, -next-generation sequencing will play an increasingly important role when applied to chromatin -immunoprecipitation, RNA transcriptome analysis, and studies of human genetic variation and mutation in carefully phenotyped healthy and disease populations. In this chapter, a brief overview of recent technological advances in next-generation nucleic acid sequencing is presented, with emphasis on practical -application to clinical studies in cardiovascular diseases.
核酸测序方面的最新技术进展的应用，将加速脂蛋白与心血管疾病新基因组范式的识别。目前，大规模基因组学设施具备通过结合“下一代”DNA测序技术来实现这一目标的能力，这些技术主要致力于从个体群体中组装与完整基因、整个外显子组或全基因组相对应的大规模平行序列读数。未来，各个实验室也将利用下一代测序和自动化桑格测序相结合的方式，将这项新兴技术用于针对性的基因组研究。特别是，下一代测序应用于染色质免疫沉淀、RNA转录组分析以及对精心表型分型的健康和疾病群体中的人类遗传变异与突变研究时，将发挥越来越重要的作用。在本章中，将简要概述下一代核酸测序的最新技术进展，并重点介绍其在心血管疾病临床研究中的实际应用。
