Difference between revisions of "A Caucasian human genome was sequenced by Helicos single molecule sequencer"
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Revision as of 04:37, 13 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.