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January/February 2009

Interpreting the Genome

New technologies will soon make it possible to sequence thousands of human genomes. Now comes the hard part: understanding all the data.

By Emily Singer

Superfast Sequencing: Prototype machines at Pacific Biosciences are being tested with bacterial DNA.
Credit: Justin Fantl

The 12 prototypes look like prefabricated children's forts--boxes the size of freezers, faced with bright red plastic and grouped in twos and threes on a concrete floor at Pacific Biosciences, a startup in Menlo Park, CA. But the simple exterior of the machines belies the complexity within. Each box houses a small chip packed with thousands of strands of DNA from bacteria or viruses, each strand in a nano-sized well. An enzyme stuck to the bottom of each well speedily builds a corresponding strand, stringing together the bases, or chemical subunits of DNA, that pair properly with those of the original. Each of the four types of bases, represented by the letters A, T, C, and G, is labeled with a different fluorescent marker, which is activated by the reaction that attaches a new base to the strand. Because the machine tracks the reactions as they happen, it can churn out reams of raw data on the sequences of the DNA samples as fast as a built-in camera can record them.

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