Department of Pediatrics, Division of Neonatology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
J Transl Med. 2011 Dec 30;9:222. doi: 10.1186/1479-5876-9-222.
Human genome sequencing is the process by which the exact order of nucleic acid base pairs in the 24 human chromosomes is determined. Since the completion of the Human Genome Project in 2003, genomic sequencing is rapidly becoming a major part of our translational research efforts to understand and improve human health and disease. This article reviews the current and future directions of clinical research with respect to genomic sequencing, a technology that is just beginning to find its way into clinical trials both nationally and worldwide. We highlight the currently available types of genomic sequencing platforms, outline the advantages and disadvantages of each, and compare first- and next-generation techniques with respect to capabilities, quality, and cost. We describe the current geographical distributions and types of disease conditions in which these technologies are used, and how next-generation sequencing is strategically being incorporated into new and existing studies. Lastly, recent major breakthroughs and the ongoing challenges of using genomic sequencing in clinical research are discussed.
人类基因组测序是指确定人类 24 条染色体中核酸碱基对的确切顺序的过程。自 2003 年人类基因组计划完成以来，基因组测序迅速成为我们理解和改善人类健康和疾病的转化研究工作的主要部分。本文回顾了基因组测序的临床研究现状和未来方向，这项技术才刚刚开始在国内外临床试验中得到应用。我们重点介绍了目前可用的基因组测序平台类型，概述了每种平台的优缺点，并比较了第一代和第二代技术在功能、质量和成本方面的差异。我们描述了这些技术在当前使用的疾病条件的地理分布类型，以及下一代测序技术如何战略性地被纳入新的和现有的研究中。最后，讨论了基因组测序在临床研究中的最新重大突破和正在面临的挑战。
