The complete genome of an individual by massively parallel DNA sequencing

作者：David A. Wheeler, Maithreyan Srinivasan, Michael Egholm, Yufeng Shen, Lei Chen, Amy L. McGuire, Wen He, Yi‐Ju Chen, Vinod B. Makhijani, George T. Roth, Xavier V. Gomes, Karrie Tartaro, Faheem Niazi, Cynthia Turcotte, Gerard P. Irzyk, James R. Lupski, Craig Chinault, Xingzhi Song, Yue Liu, Ye Yuan, Lynne Nazareth, Xiang Qin, Donna M. Muzny, Marcel Margulies, George M. Weinstock, Richard A. Gibbs, Jonathan M. Rothberg · 发表于：Nature · 年份：2008 · DOI：10.1038/nature06884 · 被引用次数：1847 · 研究领域：Genomics and Phylogenetic Studies、Chromosomal and Genetic Variations、Genomic variations and chromosomal abnormalities

Next-generation sequencing technologies are revolutionizing human genomics, promising to yield draft genomes cheaply and quickly. One such technology has now been used to analyse much of the genetic code of a single individual — who happens to be James D. Watson. The procedure, which involves no cloning of the genomic DNA, makes use of the latest 454 parallel sequencing instrument. The sequence cost less than US$1 million (and a mere two months) to produce, compared to the approximately US$100 million reported for sequencing Craig Venter's genome by traditional methods. Still a major undertaking, but another step towards the goal of 'personalized genomes' and 'personalized medicine'. The DNA sequence of a diploid genome of a single individual, James D. Watson, sequenced to 7.4-fold redundancy in two months using massively parallel sequencing in picolitre-size reaction vessels is reported. 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 genome1, 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 sequence of a diploid genome of a single individual, James D. Watson, sequenced to 7.4-fold redundancy in...