The complete genome of an individual by massively parallel DNA sequencing

  title={The complete genome of an individual by massively parallel DNA sequencing},
  author={David A. Wheeler and Maithreyan Srinivasan and Michael Wayland Egholm and Yufeng Shen and Lei Chen and Amy L. McGuire and Wenshe He and Yi-Ju Chen and Vinod B. Makhijani and George T. Roth and Xavier V. Gomes and Karrie R. Tartaro and Faheem Niazi and Cynthia L. Turcotte and Gerard P. Irzyk and James R. Lupski and Craig Chinault and Xing-zhi Song and Yue Liu and Ye Yuan and Lynne V. Nazareth and Xiang Qin and Donna M. Muzny and Marcel Margulies and George M. Weinstock and Richard A. Gibbs and Jonathan Rothberg},
The association of genetic variation with disease and drug response, and improvements in nucleic acid technologies, have given great optimism for the impact of ‘genomic medicine’. However, the formidable size of the diploid human genome, approximately 6 gigabases, has prevented the routine application of sequencing methods to deciphering complete individual human genomes. To realize the full potential of genomics for human health, this limitation must be overcome. Here we report the DNA… 

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  • Kikuya Kato
  • Biology
    International journal of clinical and experimental medicine
  • 2009
Steady increase in data production capacity and decrease of cost will definitely make the sequencers a powerful diagnostic tool, especially for screening of all genetic diseases.



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