As the precision medicine train continues to gather steam, building up speed to push itself down the clinical rails toward the prospect of actual individual therapies, genomics is the coal that fuels the mighty endeavor. Yet, fuel is only as good as the engine that converts the raw material into a usable form. For precision medicine, next-generation sequencing (NGS) is that finely tuned Formula 1 motor that rapidly and efficiently converts a genomic milieu into useable power for scientific research. This advanced sequencing technique has dramatically altered the field of genomic medicine in the past several years, allowing researchers to plumb the true depths of the human genome and rapidly apply the knowledge to drug discovery and disease treatment.
However, for all the power and speed NGS possesses, the technology is not without its limitations. To achieve high-throughput rates, NGS platforms break genomic sequences down into short read lengths (30 to 400 base pairs), which makes it difficult to reassemble the fragments in the proper order, given there is only a four-letter alphabet for the genetic code.
For instance, imagine if you had 100 copies of the Door’s 1967 debut album and, in a moment of temporary insanity, you decide to throw them all into a giant blender (will it blend?) and hit frappe. After the grinding stops, and you come out of your mad state, you realize there is a way to reassemble the tiny pieces and make the albums complete again, although you quickly surmise that if the pieces of the album were larger you would be able to play longer segments of the songs and tell which snippet went where. The smaller segments only allow you to hear a quick bit of instrument, a momentary blurb of vocals, or possibly only a single note—making the assembly profoundly more challenging and prone to errors.
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