Vol 452|17 April 2008 | David A. Wheeler, Maithreyan Srinivasan, Michael Egholm, Yufeng Shen, Lei Chen, Amy McGuire, Wen He, Yi-Ju Chen, Vinod Makhijani, G. Thomas Roth, Xavier Gomes, Karrie Tartaro, Faheem Niazi, Cynthia L. Turcotte, Gerard P. Irzyk, James R. Lupski, Craig Chinault, Xing-zhi Song, Yue Liu, Ye Yuan, Lynne Nazareth, Xiang Qin, Donna M. Muzny, Marcel Margulies, George M. Weinstock, Richard A. Gibbs & Jonathan M. Rothberg
This study reports the complete DNA sequence of an individual, James D. Watson, using massively parallel sequencing technology. The genome was sequenced to 7.4-fold redundancy in two months, at a cost significantly lower than traditional capillary electrophoresis methods. The sequence was compared to the reference genome, identifying 3.3 million single nucleotide polymorphisms (SNPs), 222,718 insertions and deletions (indels), and copy number variations (CNVs). The results agree well with those from traditional methods but offer advantages such as faster speed and lower cost. The study also identified novel genes and genes associated with disease, highlighting the potential of next-generation sequencing for personalized medicine. The authors discuss ethical considerations, including the protection of human subjects, returning research results to participants, and data release. The study demonstrates the feasibility of whole-genome sequencing and its potential impact on understanding genetic variation and disease.This study reports the complete DNA sequence of an individual, James D. Watson, using massively parallel sequencing technology. The genome was sequenced to 7.4-fold redundancy in two months, at a cost significantly lower than traditional capillary electrophoresis methods. The sequence was compared to the reference genome, identifying 3.3 million single nucleotide polymorphisms (SNPs), 222,718 insertions and deletions (indels), and copy number variations (CNVs). The results agree well with those from traditional methods but offer advantages such as faster speed and lower cost. The study also identified novel genes and genes associated with disease, highlighting the potential of next-generation sequencing for personalized medicine. The authors discuss ethical considerations, including the protection of human subjects, returning research results to participants, and data release. The study demonstrates the feasibility of whole-genome sequencing and its potential impact on understanding genetic variation and disease.