The Next-Generation Sequencing Revolution and Its Impact on Genomics

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 re...

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Veröffentlicht in:Cell 2013-09, Vol.155 (1), p.27-38
Hauptverfasser: Koboldt, Daniel C., Steinberg, Karyn Meltz, Larson, David E., Wilson, Richard K., Mardis, Elaine R.
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container_end_page 38
container_issue 1
container_start_page 27
container_title Cell
container_volume 155
creator Koboldt, Daniel C.
Steinberg, Karyn Meltz
Larson, David E.
Wilson, Richard K.
Mardis, Elaine R.
description 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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subjects Animals
diagnostic techniques
Disease - genetics
Genetic Variation
genome
Genomics
high-throughput nucleotide sequencing
High-Throughput Nucleotide Sequencing - history
High-Throughput Nucleotide Sequencing - methods
History, 20th Century
History, 21st Century
Humans
Mutation
risk
Sequence Analysis, DNA - history
Sequence Analysis, DNA - methods
title The Next-Generation Sequencing Revolution and Its Impact on Genomics
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