Whereas only three years ago we concerned ourselves mainly with production capacity and costs, thelandscape of genome sequencing and analysis has changed to the point that we now find our attentionfocused on the application of our technology platform and our expertise to large-scale studies of the diseasecausingelements of the human genome. This evolution is the result of two major factors. The first is a highqualityreference sequence of the human genome; in recent years, the quality and value of both the sequenceand the attendant annotation have been greatly improved as a result of sequencing the genomes of otherorganisms. The second factor is the emergence of new technology that provides sufficient low-costsequencing capacity to facilitate the interrogation of many individual human genomes in search of thesequence variants that underlie disease susceptibility and pathogenesis. In this proposal, we describe ourextant genome technology platform, our extensive experience in sequencing and analyzing genomes, and wediscuss how these resources may be brought to bear as a component of the NHGRI large-scale sequencingprogram. Additionally, we describe the new Tumor Sequencing Project and five 'center- initiated' projectsthat further illustrate how our technology platform will impact the fields of genome biology and genomicmedicine over the next several years.
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