XThe next-generation sequencing revolution and its impact on genomics

Daniel C. Koboldt, Karyn Meltz Steinberg, David E. Larson, Richard K. Wilson, Elaine R. Mardis

Research output: Contribution to journalReview articlepeer-review

655 Scopus citations

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.

Original languageEnglish
Pages (from-to)27
Number of pages1
JournalCell
Volume155
Issue number1
DOIs
StatePublished - Sep 26 2013

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