Article
The complete genome of an individual by massively parallel DNA sequencing.
Nature - 17 Apr 2008
Wheeler David A, Srinivasan Maithreyan, Egholm Michael, Shen Yufeng, Chen Lei, McGuire Amy, He Wen, Chen Yi-Ju, Makhijani Vinod, Roth G Thomas, Gomes Xavier, Tartaro Karrie, Niazi Faheem, Turcotte Cynthia L, Irzyk Gerard P, Lupski James R, Chinault Craig, Song Xing-zhi, Liu Yue, Yuan Ye, Nazareth Lynne, Qin Xiang, Muzny Donna M, Margulies Marcel, Weinstock George M, Gibbs Richard A, Rothberg Jonathan M
Abstract excerpt
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...
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