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<font size="4">Single-molecule sequencing of an individual human genome</font><br />
<br />
<font color="#0066cc">SRA009216<br />
</font><br />
<p id="aug">Dmitry Pushkarev<sup><a title="affiliated with " href="http://www.nature.com/nbt/journal/vaop/ncurrent/abs/nbt.1561.html#a1"><font color="#0066cc">1</font></a>,</sup><sup><a title="affiliated with " href="http://www.nature.com/nbt/journal/vaop/ncurrent/abs/nbt.1561.html#a2"><font color="#0066cc">2</font></a></sup>, Norma F Neff<sup><a title="affiliated with " href="http://www.nature.com/nbt/journal/vaop/ncurrent/abs/nbt.1561.html#a1"><font color="#0066cc">1</font></a>,</sup><sup><a title="affiliated with " href="http://www.nature.com/nbt/journal/vaop/ncurrent/abs/nbt.1561.html#a2"><font color="#0066cc">2</font></a></sup> & Stephen R Quake<sup><a title="affiliated with " href="http://www.nature.com/nbt/journal/vaop/ncurrent/abs/nbt.1561.html#a1"><font color="#0066cc">1</font></a></sup></p>
<p class="caff"><font color="#0066cc"></font></p>
<font color="#0066cc"><hr class="separator" />
</font>
<p class="hidden"><font size="3">Billions of 24- to 70-bp reads (32 bp average)<br />
<img style="BORDER-BOTTOM: 0px; BORDER-LEFT: 0px; VERTICAL-ALIGN: baseline; BORDER-TOP: 0px; BORDER-RIGHT: 0px" alt="approx" src="http://www.nature.com/__chars/math/special/sim/black/med/base/glyph.gif" />90% of the National Center for Biotechnology Information (NCBI) reference genome.<br />
28<img style="BORDER-BOTTOM: 0px; BORDER-LEFT: 0px; VERTICAL-ALIGN: middle; BORDER-TOP: 0px; BORDER-RIGHT: 0px" alt="times" src="http://www.nature.com/__chars/math/special/times/black/med/base/glyph.gif" /> average coverage<br />
by one sequencing instrument by a single operator with four data collection runs. <br />
Single-molecule sequencing enabled analysis of human genomic information without the need for cloning, amplification or ligation. <br />
determined <img style="BORDER-BOTTOM: 0px; BORDER-LEFT: 0px; VERTICAL-ALIGN: baseline; BORDER-TOP: 0px; BORDER-RIGHT: 0px" alt="approx" src="http://www.nature.com/__chars/math/special/sim/black/med/base/glyph.gif" />2.8 million single nucleotide polymorphisms (SNPs) with a false-positive rate of less than 1% as validated by Sanger sequencing and 99.8% concordance with SNP genotyping arrays. <br />
identified 752 regions of copy number variation by analyzing coverage depth alone and validated 27 of these using digital PCR. <br />
<br />
<br />
Nature Biotechnology</font><br />
</p>
<br />
<font color="#0066cc">SRA009216<br />
</font><br />
<p id="aug">Dmitry Pushkarev<sup><a title="affiliated with " href="http://www.nature.com/nbt/journal/vaop/ncurrent/abs/nbt.1561.html#a1"><font color="#0066cc">1</font></a>,</sup><sup><a title="affiliated with " href="http://www.nature.com/nbt/journal/vaop/ncurrent/abs/nbt.1561.html#a2"><font color="#0066cc">2</font></a></sup>, Norma F Neff<sup><a title="affiliated with " href="http://www.nature.com/nbt/journal/vaop/ncurrent/abs/nbt.1561.html#a1"><font color="#0066cc">1</font></a>,</sup><sup><a title="affiliated with " href="http://www.nature.com/nbt/journal/vaop/ncurrent/abs/nbt.1561.html#a2"><font color="#0066cc">2</font></a></sup> & Stephen R Quake<sup><a title="affiliated with " href="http://www.nature.com/nbt/journal/vaop/ncurrent/abs/nbt.1561.html#a1"><font color="#0066cc">1</font></a></sup></p>
<p class="caff"><font color="#0066cc"></font></p>
<font color="#0066cc"><hr class="separator" />
</font>
<p class="hidden"><font size="3">Billions of 24- to 70-bp reads (32 bp average)<br />
<img style="BORDER-BOTTOM: 0px; BORDER-LEFT: 0px; VERTICAL-ALIGN: baseline; BORDER-TOP: 0px; BORDER-RIGHT: 0px" alt="approx" src="http://www.nature.com/__chars/math/special/sim/black/med/base/glyph.gif" />90% of the National Center for Biotechnology Information (NCBI) reference genome.<br />
28<img style="BORDER-BOTTOM: 0px; BORDER-LEFT: 0px; VERTICAL-ALIGN: middle; BORDER-TOP: 0px; BORDER-RIGHT: 0px" alt="times" src="http://www.nature.com/__chars/math/special/times/black/med/base/glyph.gif" /> average coverage<br />
by one sequencing instrument by a single operator with four data collection runs. <br />
Single-molecule sequencing enabled analysis of human genomic information without the need for cloning, amplification or ligation. <br />
determined <img style="BORDER-BOTTOM: 0px; BORDER-LEFT: 0px; VERTICAL-ALIGN: baseline; BORDER-TOP: 0px; BORDER-RIGHT: 0px" alt="approx" src="http://www.nature.com/__chars/math/special/sim/black/med/base/glyph.gif" />2.8 million single nucleotide polymorphisms (SNPs) with a false-positive rate of less than 1% as validated by Sanger sequencing and 99.8% concordance with SNP genotyping arrays. <br />
identified 752 regions of copy number variation by analyzing coverage depth alone and validated 27 of these using digital PCR. <br />
<br />
<br />
Nature Biotechnology</font><br />
</p>