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The rapid development of new high-throughput and massively parallel DNA sequencing technologies has substantially reduced both the cost and the time required to sequence an entire human genome. It may soon be easier and cheaper to sequence an entire genome than to sequence a single gene or genotype a series of known mutations. Whole genome sequencing, together with our evolving knowledge of genes and disease, is likely to change the current practice of medicine and public health by facilitating more accurate, sophisticated and cost-effective genetic testing.