Abstract
In recent years long-read technologies have moved from being a niche and specialist field to a point of relative maturity likely to feature frequently in the genomic landscape. Analogous to next generation sequencing, the cost of sequencing using long-read technologies has materially dropped whilst the instrument throughput continues to increase. Together these changes present the prospect of sequencing large numbers of individuals with the aim of fully characterizing genomes at high resolution. In this article, we will endeavour to present an introduction to long-read technologies showing: what long reads are; how they are distinct from short reads; why long reads are useful and how they are being used. We will highlight the recent developments in this field, and the applications and potential of these technologies in medical research, and clinical diagnostics and therapeutics.
Highlights
DNA is an extraordinarily compact storage medium, so small that developing ways to decode the sequence encoded in these molecules has been a topic of research for many years
Analogous to generation sequencing, the cost of sequencing using long-read technologies has materially dropped whilst the instrument throughput continues to increase
We will endeavour to present an introduction to long-read technologies showing: what long reads are; how they are distinct from short reads; why long reads are useful and how they are being used
Summary
DNA is an extraordinarily compact storage medium, so small that developing ways to decode the sequence encoded in these molecules has been a topic of research for many years. The breakthrough allowing sequencing at scale came with the advent of generation sequencing (NGS) technology, which employed massively parallel reactions for high throughput While these technologies have been able to capture sequence from the majority of the genome and have found utility in the study of disease, their short reads and lack of contextual information has limited their utility in genome assembly and in resolving complex and repetitive regions of the genome. Key to achieving high quality results with all long-read technologies is the use of high molecular weight DNA as a starting material. The utility of these methods depends on a long DNA fragment size, with DNA damage and fragmentation limiting the quality of data obtained. Specific protocols for DNA extraction such as the agarose gel protocol for BioNano are ideal to maximize yield from these methods
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