DNA sequencing – the process of reading part or all of the DNA of an organism – is helping to improve clinical care across different areas of medicine, from rare diseases and cancers, to the management of infectious diseases.
Progress has been accelerated by the advancement of high-throughput nextgeneration sequencing (NGS) technologies, which are capable of reading the code of millions of small fragments of DNA in parallel. These have enabled faster sequencing with increased throughput, at falling costs. In recent years, new technologies that are capable of sequencing longer strands of DNA by reading single DNA molecules, have advanced and become more prominent.
In these two complementary policy briefings, we provide an introduction to long-read sequencing, discuss the advantages it presents, and examine what impact it might have on clinical diagnostics.
The first briefing explains what long-read sequencing (LRS) is, and how it differs from established short-read sequencing (SRS).
The second, accompanying briefing, Long read sequencing: ready for the clinic?, describes the potential of these technologies for diagnostic sequencing in a clinical setting, and in this context the challenges with implementing the technology.