Difference between revisions of "A Caucasian human genome was sequenced by Helicos single molecule sequencer"
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<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 /> | ||
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[[Helicos Biosciences]]<br /> | [[Helicos Biosciences]]<br /> | ||
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| + | <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 /> | ||
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Revision as of 18:25, 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.
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.
