PubReading [123] - Next-Generation Sequencing Technologies - R. McCombie, J. McPherson, and E. Mardis

<p>Although DNA and RNA <strong>sequencing</strong> has a history spanning five decades, large-scale massively parallel sequencing, or <strong>next-generation sequencing</strong> (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 our- selves. 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. <strong>NGS methods</strong> have also entered the medical realm and will see 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. - oi: 10.1101/cshperspect.a036798 - 2019</p>