Oct 1, 2013

The next-generation sequencing revolution and its impact on genomics

Cell
Daniel C KoboldtElaine Mardis

Abstract

Genomics is a relatively new scientific discipline, having DNA sequencing as its core technology. As technology has improved the cost and scale of genome characterization over sequencing's 40-year history, the scope of inquiry has commensurately broadened. Massively parallel sequencing has proven revolutionary, shifting the paradigm of genomics to address biological questions at a genome-wide scale. Sequencing now empowers clinical diagnostics and other aspects of medical care, including disease risk, therapeutic identification, and prenatal testing. This Review explores the current state of genomics in the massively parallel sequencing era.

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References

Mentioned in this Paper

Genome-Wide Association Study
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Genome

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