View source for James Watson Genome Paper Abstract

<p><span style="widows: 2; text-transform: none; text-indent: 0px; border-collapse: separate; font: medium 'Times New Roman'; white-space: normal; orphans: 2; letter-spacing: normal; color: rgb(0,0,0); word-spacing: 0px; -webkit-border-horizontal-spacing: 0px; -webkit-border-vertical-spacing: 0px; -webkit-text-decorations-in-effect: none; -webkit-text-size-adjust: auto; -webkit-text-stroke-width: 0px" class="Apple-style-span"><span style="text-align: left; line-height: 16px; font-family: Verdana, arial, Helvetica, sans-serif; font-size: 12px; font-weight: bold" class="Apple-style-span">The association of genetic variation with disease and drug response, and improvements in nucleic acid technologies, have given great optimism for the impact of &lsquo;genomic medicine&rsquo;. However, the formidable size of the diploid human genome<sup><a style="color: rgb(43,64,85)" href="http://www.nature.com/nature/journal/v452/n7189/full/nature06884.html#B1">1</a></sup>, approximately 6<span style="background-image: none !important; padding-bottom: 0px !important; background-color: transparent !important; padding-left: 0px !important; padding-right: 0px !important; display: inline !important; font-family: 'arial unicode ms', 'lucida grande', 'lucida sans unicode', sans-serif !important; visibility: visible !important; padding-top: 0px !important; background-origin: initial; background-clip: initial" class="mb"><span style="background-image: none !important; padding-bottom: 0px !important; background-color: transparent !important; padding-left: 0px !important; padding-right: 0px !important; display: inline !important; font-family: 'arial unicode ms', 'lucida grande', 'lucida sans unicode', sans-serif !important; visibility: visible !important; padding-top: 0px !important; background-origin: initial; background-clip: initial" class="mb">&thinsp;</span></span>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. </span></span></p>
<p><span style="widows: 2; text-transform: none; text-indent: 0px; border-collapse: separate; font: medium 'Times New Roman'; white-space: normal; orphans: 2; letter-spacing: normal; color: rgb(0,0,0); word-spacing: 0px; -webkit-border-horizontal-spacing: 0px; -webkit-border-vertical-spacing: 0px; -webkit-text-decorations-in-effect: none; -webkit-text-size-adjust: auto; -webkit-text-stroke-width: 0px" class="Apple-style-span"><span style="text-align: left; line-height: 16px; font-family: Verdana, arial, Helvetica, sans-serif; font-size: 12px; font-weight: bold" class="Apple-style-span">Here we report the DNA sequence of a diploid genome of a single individual, James D. Watson, sequenced to <span style="color: #ff0000">7.4-fold </span>redundancy in <span style="color: #ff0000">two months </span>using massively parallel sequencing in picolitre-size reaction vessels. </span></span></p>
<p><span style="widows: 2; text-transform: none; text-indent: 0px; border-collapse: separate; font: medium 'Times New Roman'; white-space: normal; orphans: 2; letter-spacing: normal; color: rgb(0,0,0); word-spacing: 0px; -webkit-border-horizontal-spacing: 0px; -webkit-border-vertical-spacing: 0px; -webkit-text-decorations-in-effect: none; -webkit-text-size-adjust: auto; -webkit-text-stroke-width: 0px" class="Apple-style-span"><span style="text-align: left; line-height: 16px; font-family: Verdana, arial, Helvetica, sans-serif; font-size: 12px; font-weight: bold" class="Apple-style-span">This sequence was completed in two months at approximately one-hundredth of the cost of traditional capillary electrophoresis methods. </span></span></p>
<p><span style="widows: 2; text-transform: none; text-indent: 0px; border-collapse: separate; font: medium 'Times New Roman'; white-space: normal; orphans: 2; letter-spacing: normal; color: rgb(0,0,0); word-spacing: 0px; -webkit-border-horizontal-spacing: 0px; -webkit-border-vertical-spacing: 0px; -webkit-text-decorations-in-effect: none; -webkit-text-size-adjust: auto; -webkit-text-stroke-width: 0px" class="Apple-style-span"><span style="text-align: left; line-height: 16px; font-family: Verdana, arial, Helvetica, sans-serif; font-size: 12px; font-weight: bold" class="Apple-style-span">Comparison of the sequence to the reference genome led to the identification of<span style="color: #ff0000"> 3.3<span style="background-image: none !important; padding-bottom: 0px !important; background-color: transparent !important; padding-left: 0px !important; padding-right: 0px !important; display: inline !important; font-family: 'arial unicode ms', 'lucida grande', 'lucida sans unicode', sans-serif !important; visibility: visible !important; padding-top: 0px !important; background-origin: initial; background-clip: initial" class="mb"><span style="background-image: none !important; padding-bottom: 0px !important; background-color: transparent !important; padding-left: 0px !important; padding-right: 0px !important; display: inline !important; font-family: 'arial unicode ms', 'lucida grande', 'lucida sans unicode', sans-serif !important; visibility: visible !important; padding-top: 0px !important; background-origin: initial; background-clip: initial" class="mb">&thinsp;</span></span>million </span>single nucleotide polymorphisms, of which 10,654 cause amino-acid substitution within the coding sequence. </span></span></p>
<p><span style="widows: 2; text-transform: none; text-indent: 0px; border-collapse: separate; font: medium 'Times New Roman'; white-space: normal; orphans: 2; letter-spacing: normal; color: rgb(0,0,0); word-spacing: 0px; -webkit-border-horizontal-spacing: 0px; -webkit-border-vertical-spacing: 0px; -webkit-text-decorations-in-effect: none; -webkit-text-size-adjust: auto; -webkit-text-stroke-width: 0px" class="Apple-style-span"><span style="text-align: left; line-height: 16px; font-family: Verdana, arial, Helvetica, sans-serif; font-size: 12px; font-weight: bold" class="Apple-style-span">In addition, we accurately identified small-scale (2&ndash;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<span style="background-image: none !important; padding-bottom: 0px !important; background-color: transparent !important; padding-left: 0px !important; padding-right: 0px !important; display: inline !important; font-family: 'arial unicode ms', 'lucida grande', 'lucida sans unicode', sans-serif !important; visibility: visible !important; padding-top: 0px !important; background-origin: initial; background-clip: initial" class="mb"><span style="background-image: none !important; padding-bottom: 0px !important; background-color: transparent !important; padding-left: 0px !important; padding-right: 0px !important; display: inline !important; font-family: 'arial unicode ms', 'lucida grande', 'lucida sans unicode', sans-serif !important; visibility: visible !important; padding-top: 0px !important; background-origin: initial; background-clip: initial" class="mb">&thinsp;</span></span>million base pairs. Overall, these results agree well with recent results of sequencing of a single individual<sup><a style="color: rgb(43,64,85)" href="http://www.nature.com/nature/journal/v452/n7189/full/nature06884.html#B2">2</a></sup><span class="Apple-converted-space">&nbsp;</span>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. </span></span></p>
<p><span style="widows: 2; text-transform: none; text-indent: 0px; border-collapse: separate; font: medium 'Times New Roman'; white-space: normal; orphans: 2; letter-spacing: normal; color: rgb(0,0,0); word-spacing: 0px; -webkit-border-horizontal-spacing: 0px; -webkit-border-vertical-spacing: 0px; -webkit-text-decorations-in-effect: none; -webkit-text-size-adjust: auto; -webkit-text-stroke-width: 0px" class="Apple-style-span"><span style="text-align: left; line-height: 16px; font-family: Verdana, arial, Helvetica, sans-serif; font-size: 12px; font-weight: bold" class="Apple-style-span">This is the first genome sequenced by next-generation technologies. </span></span></p>
<p><span style="widows: 2; text-transform: none; text-indent: 0px; border-collapse: separate; font: medium 'Times New Roman'; white-space: normal; orphans: 2; letter-spacing: normal; color: rgb(0,0,0); word-spacing: 0px; -webkit-border-horizontal-spacing: 0px; -webkit-border-vertical-spacing: 0px; -webkit-text-decorations-in-effect: none; -webkit-text-size-adjust: auto; -webkit-text-stroke-width: 0px" class="Apple-style-span"><span style="text-align: left; line-height: 16px; font-family: Verdana, arial, Helvetica, sans-serif; font-size: 12px; font-weight: bold" class="Apple-style-span">Therefore it is a pilot for the future challenges of &lsquo;personalized genome sequencing&rsquo;.</span></span></p>
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<p><span style="font-size: medium">External Links</span></p>
<p>[http://personalgenomics.org Personal Genomics.org]</p>
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