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Whole-Genome Sequencing

Whole-Genome Sequencing Editorials represent the opinions EDITORIAL of the authors and JAMA and not those of the American Medical Association. A Step Closer to Personalized Medicine The new technologies simultaneously read millions of short, Boris Pasche, MD, PhD 50- to 200-nucleotide DNA sequences from a pool of ran- Devin Absher, PhD domized genomic fragments in a single experiment. The pro- cess, which would have taken months with older technolo- HE PAST 60 YEARS HAVE WITNESSED REMARKABLE gies, is finished in a few days. Prior to the completion of progress in genetics and genomics from the descrip- the Human Genome Project, these short reads would have tion of the DNA double helix by Watson and Crick been difficult to interpret, as their genomic origin would have Tto the release of the first draft sequence of the hu- been unknown. However, the human reference sequence is 2,3 man genome in 2001 and the successful completion of the now used to computationally map these sequences to the human genome project in 2003. From that time, there has genome and to identify polymorphisms and novel muta- been increasing hope and expectation that, as soon as the tions in a patient’s DNA. cost of sequencing the http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png JAMA American Medical Association

Whole-Genome Sequencing

JAMA , Volume 305 (15) – Apr 20, 2011

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Publisher
American Medical Association
Copyright
Copyright 2011 American Medical Association. All Rights Reserved. Applicable FARS/DFARS Restrictions Apply to Government Use.
ISSN
0098-7484
eISSN
1538-3598
DOI
10.1001/jama.2011.484
pmid
21505140
Publisher site
See Article on Publisher Site

Abstract

Editorials represent the opinions EDITORIAL of the authors and JAMA and not those of the American Medical Association. A Step Closer to Personalized Medicine The new technologies simultaneously read millions of short, Boris Pasche, MD, PhD 50- to 200-nucleotide DNA sequences from a pool of ran- Devin Absher, PhD domized genomic fragments in a single experiment. The pro- cess, which would have taken months with older technolo- HE PAST 60 YEARS HAVE WITNESSED REMARKABLE gies, is finished in a few days. Prior to the completion of progress in genetics and genomics from the descrip- the Human Genome Project, these short reads would have tion of the DNA double helix by Watson and Crick been difficult to interpret, as their genomic origin would have Tto the release of the first draft sequence of the hu- been unknown. However, the human reference sequence is 2,3 man genome in 2001 and the successful completion of the now used to computationally map these sequences to the human genome project in 2003. From that time, there has genome and to identify polymorphisms and novel muta- been increasing hope and expectation that, as soon as the tions in a patient’s DNA. cost of sequencing the

Journal

JAMAAmerican Medical Association

Published: Apr 20, 2011

References