摘要: The Human Genome Project (HGP) was a collaboration of 23 laboratories around the world and provided the initial draft of the whole human DNA sequence in 2001. 1 The project lasted for more than 13 years and cost approximately $3 billion. The project has spawned tremendous advances in our basic understanding of human DNA biology and an individual's sequence variation within the genome. A major spin-off of the HGP project has been the introduction of instruments capable of sequencing DNA at increasingly lower costs. This technology, known as next-generation sequencing (NGS), has been instrumental in driving down the cost of DNA sequencing to levels which were unimaginable just a decade ago 2 (see Figure 1). We can now sequence the entire human genome for a few thousand dollars in a small lab-based setup. The average NGS instrument occupies space no more than a large bench top. This …