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 Egholm and Yufeng Shen and Lei Chen and A. McGuire and Wen 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 Y Liu and Ye Yuan and Lynne V. Nazareth and Xiang Qin and Donna M. Muzny and Marcel Margulies and George Weinstock and Richard A. Gibbs and Jonathan M. 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… CONTINUE READING
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