"The complete genome sequence of an individual by massively
parallel DNA sequencing," by David A. Wheeler and 25 others,
Nature, 452(7189): 872-7, 17 April 2008.
[Authors' affiliations: Baylor College of Medicine, Houston, TX; Roche
Diagnostics, Bradford, CT; Texas Children's Hospital, Houston]
Abstract: "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 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. This sequence was
completed in two months at approximately one-hundredth of the cost of
traditional capillary electrophoresis methods. Comparison of the sequence
to the reference genome led to the identification of 3.3 million single
nucleotide polymorphisms, of which 10,654 cause amino- acid substitution
within the coding sequence. In addition, we accurately identified
small-scale ( 2 - 40,000 base pair ( bp)) insertion and deletion
polymorphism as well as copy number variation resulting in the large-scale
gain and loss of chromosomal segments ranging from 26,000 to 1.5 million
base pairs. Overall, these results agree well with recent results of
sequencing of a single individual(2) by traditional methods. However, in
addition to being faster and significantly less expensive, this sequencing
technology avoids the arbitrary loss of genomic sequences inherent in
random shotgun sequencing by bacterial cloning because it amplifies DNA in
a cell-free system. As a result, we further demonstrate the acquisition of
novel human sequence, including novel genes not previously identified by
traditional genomic sequencing. This is the first genome sequenced by
next-generation technologies. Therefore it is a pilot for the future
challenges of 'personalized genome sequencing'."
This 2008 report in Nature was cited 39
times in current journal articles indexed by
Clarivate during
September-October 2009. Only two other biology papers published in the last
two years, aside from reviews, garnered higher citation totals during that
two-month period. Prior to the most recent bimonthly count, citations to
the paper have accrued as follows:
July-August 2009: 15 citations
May-June 2009: 23
March-April 2009: 31
January-February 2009: 19
November-December 2008: 24
September-October 2008: 9
July-August 2008: 8
May-June 2008: 2
March-April 2008: 2
Total citations to date: 172
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