Anticipating the $1,000 genome

作者: Elaine R Mardis

DOI: 10.1186/GB-2006-7-7-112

关键词: $1,000 genomeBiologyPersonal genomicsGenome BiologyHuman geneticsHuman genomeData scienceComparative genomicsGenomicsGeneticsComputational genomics

摘要: A new generation of DNA-sequencing platforms will become commercially available over the next few years. These instruments enable re-sequencing human genomes at a previously unimagined throughput and low cost. Here, I examine why $1,000 genome is an important goal for research clinical diagnostics, what be required to achieve it.

参考文章(15)
Edward David Hyman, A new method of sequencing DNA Analytical Biochemistry. ,vol. 174, pp. 423- 436 ,(1988) , 10.1016/0003-2697(88)90041-3
Mostafa Ronaghi, Samer Karamohamed, Bertil Pettersson, Mathias Uhlén, Pål Nyrén, Real-Time DNA Sequencing Using Detection of Pyrophosphate Release Analytical Biochemistry. ,vol. 242, pp. 84- 89 ,(1996) , 10.1006/ABIO.1996.0432
R.K. WILSON, T.J. LEY, F.S. COLE, J.D. MILBRANDT, S. CLIFTON, L. FULTON, G. FEWELL, P. MINX, H. SUN, M. MCLELLAN, C. POHL, E.R. MARDIS, Mutational profiling in the human genome. Cold Spring Harbor Symposia on Quantitative Biology. ,vol. 68, pp. 23- 30 ,(2003) , 10.1101/SQB.2003.68.23
John A. Robertson, The $1000 genome: ethical and legal issues in whole genome sequencing of individuals. American Journal of Bioethics. ,vol. 3, pp. 35- 42 ,(2003) , 10.1162/152651603322874762
Jingrui Jiang, J. Guillermo Paez, Jeffrey C. Lee, Ronghai Bo, Richard M. Stone, Daniel J. DeAngelo, Ilene Galinsky, Brian M. Wolpin, Anna Jonasova, Paula Herman, Edward A. Fox, Titus J. Boggon, Michael J. Eck, Ellen Weisberg, James D. Griffin, D. Gary Gilliland, Matthew Meyerson, William R. Sellers, Identifying and characterizing a novel activating mutation of the FLT3 tyrosine kinase in AML Blood. ,vol. 104, pp. 1855- 1858 ,(2004) , 10.1182/BLOOD-2004-02-0712
J. D. WATSON, F. H. C. CRICK, Molecular Structure of Nucleic Acids: A Structure for Deoxyribose Nucleic Acid Nature. ,vol. 171, pp. 737- 738 ,(1953) , 10.1038/171737A0
Marcel Margulies, Michael Egholm, William E Altman, Said Attiya, Joel S Bader, Lisa A Bemben, Jan Berka, Michael S Braverman, Yi-Ju Chen, Zhoutao Chen, Scott B Dewell, Lei Du, Joseph M Fierro, Xavier V Gomes, Brian C Godwin, Wen He, Scott Helgesen, Chun He Ho, Gerard P Irzyk, Szilveszter C Jando, Maria LI Alenquer, Thomas P Jarvie, Kshama B Jirage, Jong-Bum Kim, James R Knight, Janna R Lanza, John H Leamon, Steven M Lefkowitz, Ming Lei, Jing Li, Kenton L Lohman, Hong Lu, Vinod B Makhijani, Keith E McDade, Michael P McKenna, Eugene W Myers, Elizabeth Nickerson, John R Nobile, Ramona Plant, Bernard P Puc, Michael T Ronan, George T Roth, Gary J Sarkis, Jan Fredrik Simons, John W Simpson, Maithreyan Srinivasan, Karrie R Tartaro, Alexander Tomasz, Kari A Vogt, Greg A Volkmer, Shally H Wang, Yong Wang, Michael P Weiner, Pengguang Yu, Richard F Begley, Jonathan M Rothberg, None, Genome sequencing in microfabricated high-density picolitre reactors Nature. ,vol. 437, pp. 376- 380 ,(2005) , 10.1038/NATURE03959
Jill R. Woloszynek, Robert J. Rothbaum, Amy S. Rawls, Patrick J. Minx, Richard K. Wilson, Philip J. Mason, Monica Bessler, Daniel C. Link, Mutations of the SBDS gene are present in most patients with Shwachman-Diamond syndrome Blood. ,vol. 104, pp. 3588- 3590 ,(2004) , 10.1182/BLOOD-2004-04-1516
M. L. Metzker, Emerging technologies in DNA sequencing Genome Research. ,vol. 15, pp. 1767- 1776 ,(2005) , 10.1101/GR.3770505