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 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.
The Genome Institute, School of Medicine, Washington University, St. Louis, MO 63108, USA.
Daniel C
DC
Koboldt
Karyn Meltz
KM
Steinberg
David E
DE
Larson
Richard K
RK
Wilson
Elaine R
ER
Mardis
D000818:Animals; D004194:Disease / Q000235:genetics; D014644:Genetic Variation; D023281:Genomics; D059014:High-Throughput Nucleotide Sequencing / Q000266:history / Q000379:methods*; D049673:History, 20th Century; D049674:History, 21st Century; D006801:Humans; D009154:Mutation; D017422:Sequence Analysis, DNA / Q000266:history / Q000379:methods*