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Chunk #4 — Technological advances driving genomic discovery

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Genomics, personalized medicine, and pediatrics.
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At the conclusion of the HGP, the National Human Genome Research Institute of the National Institutes of Health published a vision for the future of genomics research. This vision included technology development as a centerpiece and articulated the goal of achieving the goal of sequencing an entire genome at very low cost, which has come to be referred to as the “$1000 genome.”9 The article recognized that rapidly and inexpensively measuring individual variations in the genome (genotyping) would be of great value. The push to develop inexpensive means for measuring human genetic variation came from awareness that to understand genome function in health and disease would require genotyping or sequencing tens, if not hundreds of thousands, of human genomes, along with the genomes of numerous other organisms. Also appreciated was that the ultimate clinical use of genomics would require highly accurate, rapid, and inexpensive ways to measure variation without reliance on teams of trained scientists and highly specialized equipment.