Genome Center, Cold Spring Harbor Laboratory, Woodbury, New York 11797.
Department of Biochemistry and Molecular Medicine, University of California Davis Comprehensive Cancer Center, Sacramento, California 95817.
Cold Spring Harb Perspect Med. 2019 Nov 1;9(11):a036798. doi: 10.1101/cshperspect.a036798.
Although DNA and RNA sequencing has a history spanning five decades, large-scale massively parallel sequencing, or next-generation sequencing (NGS), has only been commercially available for about 10 years. Nonetheless, the meteoric increase in sequencing throughput with NGS has dramatically changed our understanding of our genome and ourselves. Sequencing the first human genome as a haploid reference took nearly 10 years but now a full diploid human genome sequence can be accomplished in just a few days. NGS has also reduced the cost of generating sequence data and a plethora of sequence-based methods for probing a genome have emerged using NGS as the readout and have been applied to many species. NGS methods have also entered the medical realm and will see an increasing use in diagnosis and treatment. NGS has largely been driven by short-read generation (150 bp) but new platforms have emerged and are now capable of generating long multikilobase reads. These latter platforms enable reference-independent genome assemblies and long-range haplotype generation. Rapid DNA and RNA sequencing is now mainstream and will continue to have an increasing impact on biology and medicine.
尽管 DNA 和 RNA 测序已有五十年的历史，但大规模并行测序或下一代测序 (NGS) 仅在大约 10 年前才开始商业化。尽管如此，NGS 测序通量的飞速增长极大地改变了我们对基因组和自身的认识。以前，要测序一个单倍体参考基因组需要近 10 年的时间，但现在只需要几天就可以完成一个完整的人类二倍体基因组序列。NGS 还降低了生成序列数据的成本，并且已经出现了大量基于序列的方法来探测基因组，这些方法都将 NGS 作为读出，并已应用于许多物种。NGS 方法也已经进入医学领域，并将在诊断和治疗中得到越来越多的应用。NGS 的发展在很大程度上依赖于短读长生成（150bp），但新的平台已经出现，现在能够生成长的多千碱基读长。这些较新的平台能够实现无参考基因组组装和长距离单倍型生成。快速的 DNA 和 RNA 测序现在已经成为主流，并且将继续对生物学和医学产生越来越大的影响。
