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Hot Paper in Biology

"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 Analytics 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

SOURCE: Hot Papers Database (Included with a subscription to the print newsletter Science Watch®, available from the Research Services Group of Thomson Reuters. Packaged on a CD that is mailed with each Science Watch issue, the Hot Papers Database contains data on hundreds of highly cited papers published during the last two years. User interface permits searching by author, organization, journal, field, and more. Total citations, as well as citations accrued during successive bimonthly periods, can be assessed and graphed. An updated CD containing the most recent bimonthly data is mailed with every new issue of Science Watch, six times a year. The CD also includes an electronic version of the Science Watch issue in HTML format, for personal desktop access.

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