Difference between revisions of "A Caucasian human genome was sequenced by Helicos single molecule sequencer"
imported>J |
|||
| (2 intermediate revisions by 2 users not shown) | |||
| Line 3: | Line 3: | ||
<font color="#0066cc">SRA009216<br /> | <font color="#0066cc">SRA009216<br /> | ||
</font><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 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> | <p class="caff"><font color="#0066cc"></font></p> | ||
<font color="#0066cc"><hr class="separator" /> | <font color="#0066cc"><hr class="separator" /> | ||
| Line 15: | Line 15: | ||
identified 752 regions of copy number variation by analyzing coverage depth alone and validated 27 of these using digital PCR. <br /> | identified 752 regions of copy number variation by analyzing coverage depth alone and validated 27 of these using digital PCR. <br /> | ||
<br /> | <br /> | ||
| + | * Stephen Quake is the co-founder of Helicos.<br /> | ||
<br /> | <br /> | ||
| − | Nature Biotechnology</font><br /> | + | </font><font size="2">[[Nature Biotechnology]]</font><br /> |
<br /> | <br /> | ||
<a href="http://www.nature.com/nbt/journal/vaop/ncurrent/abs/nbt.1561.html">http://www.nature.com/nbt/journal/vaop/ncurrent/abs/nbt.1561.html</a>.<br /> | <a href="http://www.nature.com/nbt/journal/vaop/ncurrent/abs/nbt.1561.html">http://www.nature.com/nbt/journal/vaop/ncurrent/abs/nbt.1561.html</a>.<br /> | ||
<br /> | <br /> | ||
[[Helicos Biosciences]]<br /> | [[Helicos Biosciences]]<br /> | ||
| + | <br /> | ||
| + | <font size="4">See also</font><br /> | ||
| + | [http://timesonline.typepad.com/science/2009/08/the-50000-genome-and-the-advance-of-personalised-medicine.html Inflated claims for the $50,000 genome by Times Online] 20090812.<br /> | ||
</p> | </p> | ||
Latest revision as of 18:26, 14 August 2009
Single-molecule sequencing of an individual human genome
SRA009216
Dmitry Pushkarev1,2, Norma F Neff1,2 & Stephen R Quake1
Billions of 24- to 70-bp reads (32 bp average)
90% of the National Center for Biotechnology Information (NCBI) reference genome.
28
average coverage
by one sequencing instrument by a single operator with four data collection runs.
Single-molecule sequencing enabled analysis of human genomic information without the need for cloning, amplification or ligation.
determined 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.
identified 752 regions of copy number variation by analyzing coverage depth alone and validated 27 of these using digital PCR.
- Stephen Quake is the co-founder of Helicos.
Nature Biotechnology
http://www.nature.com/nbt/journal/vaop/ncurrent/abs/nbt.1561.html.
Helicos Biosciences
See also
Inflated claims for the $50,000 genome by Times Online 20090812.
