The Genome Center at Washington University School of Medicine, Department of Genetics, 4444 Forest Park Boulevard, St Louis, MO 63108, USA.
Genome Med. 2009 Apr 17;1(4):40. doi: 10.1186/gm40.
A variety of techniques that specifically target human gene sequences for differential capture from a genomic sample, coupled with next-generation, massively parallel DNA sequencing instruments, is rapidly supplanting the combination of polymerase chain reaction and capillary sequencing to discover coding variants in medically relevant samples. These studies are most appropriate for the sample numbers necessary to identify both common and rare single nucleotide variants, as well as small insertion or deletion events, which may cause complex inherited diseases. The same massively parallel sequencers are simultaneously being used for whole-genome resequencing and comprehensive, genome-wide variant discovery in studies of somatic diseases such as cancer. Viral and microbial researchers are using next-generation sequences to identify unknown etiologic agents in human diseases, to study the viral and microbial species that occupy surfaces of the human body, and to inform the clinical management of chronic infectious diseases such as human immunodeficiency virus (HIV). Taken together, these approaches are dramatically accelerating the pace of human disease research and are already impacting patient care.
各种专门针对人类基因序列的技术，从基因组样本中进行差异捕获，加上新一代的大规模并行 DNA 测序仪器，正在迅速取代聚合酶链反应和毛细管测序的组合，以发现医学相关样本中的编码变异。这些研究最适合识别常见和罕见的单核苷酸变异以及可能导致复杂遗传性疾病的小插入或缺失事件所需的样本数量。相同的大规模并行测序器也同时用于全基因组重测序和全面的、全基因组变异发现研究，如癌症等体细胞疾病。病毒和微生物研究人员正在使用下一代序列来鉴定人类疾病中未知的病因，研究占据人体表面的病毒和微生物种类，并为慢性传染病（如人类免疫缺陷病毒 (HIV)）的临床管理提供信息。总的来说，这些方法正在极大地加速人类疾病研究的步伐，并已经对患者护理产生了影响。
