Single Molecule Sequencing of an Individual Human Genome

Despite the rapid advances in high throughput DNA sequencing technology human genome sequencing has required the resources provided by either a large genome center or an industrial research organization. The development of a single molecule sequencing instrument has now enabled order of magnitude improvements both in cost and in machine performance, and we report here its use in sequencing an individual human genome. Our results demonstrate that human genome sequencing is now within the realm of a single investigator lab, requiring only one instrument, one operator, and three weeks of data collection. This milestone should allow widespread application of genome sequencing to many aspects of genetics and human health, including personal genomics in the most literal sense.