DNA sequencing using next-generation technologies has become established in several clinical areas over the past decade and is rapidly gaining popularity in many others. Reproductive health, oncology, Mendelian diseases, complex diseases, and infectious diseases are key areas where next-generation sequencing (NGS) has a significant presence or is expected to establish itself in the coming years.
As the Human Genome Project was coming to an end in 2003—two years ahead of schedule—new technological developments sparked a second revolution in the study of genomes. These so-called nextgeneration sequencing (NGS) techniques use massively parallel sequencing to decode large areas of the genome, orders of magnitude faster than Sanger sequencing, which had been key to the success of the Human Genome Project (1).
NGS technologies developed in the decade that followed fall into two categories: those that use clonal amplification (sometimes known as second-generation sequencing) and single-molecule techniques (third generation). These innovations helped drive down the cost per nucleotide to the extent that it opened up NGS to a wide range of clinical applications.
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