The complete genome of an individual by massively parallel DNA sequencing
@article{Wheeler2008TheCG, title={The complete genome of an individual by massively parallel DNA sequencing}, author={D. Wheeler and M. Srinivasan and M. Egholm and Y. Shen and L. Chen and A. McGuire and W. He and Y. Chen and V. Makhijani and G. T. Roth and X. Gomes and K. Tartaro and Faheem Niazi and Cynthia L. Turcotte and G. Irzyk and J. Lupski and C. Chinault and X. Song and Y. Liu and Y. Yuan and L. Nazareth and Xiang Qin and D. Muzny and M. Margulies and G. Weinstock and R. Gibbs and J. M. Rothberg}, journal={Nature}, year={2008}, volume={452}, pages={872-876} }
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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