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Science  09 Apr 2010:
Vol. 328, Issue 5975, pp. 249
DOI: 10.1126/science.328.5975.249

Summary

It's an interesting time for genome scientists. With next generation technologies outpacing Moore's Law and prices plummeting, human genomes-once multimillion-dollar propositions-today cost tens of thousands of dollars, about the same as a car. Yet multiply those prices by the sample numbers required to triangulate disease genes-not to mention the burden of collecting, storing, and analyzing the resulting data-and expect genomic sticker shock. There is an alternative. Supported by some $76.5 million in federal spending since 2008, plus a clutch of commercial products, exome sequencing proved its mettle in 2009 with a trio of papers highlighting its clinical possibilities. No wonder Science named exome studies one of five "areas to watch" in its December "Breakthrough of the Year" issue.