Research abstract
Letter abstract
Nature Biotechnology 27, 847 - 850 (2009)
Published online: 10 August 2009 | doi:10.1038/nbt.1561
Single-molecule sequencing of an individual human genome
Dmitry Pushkarev1,2, Norma F Neff1,2 & Stephen R Quake1
Recent advances in high-throughput DNA sequencing technologies have enabled order-of-magnitude improvements in both cost and throughput. Here we report the use of single-molecule methods to sequence an individual human genome. We aligned billions of 24- to 70-bp reads (32 bp average) to 
90% of the National Center for Biotechnology Information (NCBI) reference genome, with 28
average coverage. Our results were obtained on 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. We 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. We identified 752 regions of copy number variation by analyzing coverage depth alone and validated 27 of these using digital PCR. This milestone should allow widespread application of genome sequencing to many aspects of genetics and human health, including personal genomics.
- Department of Bioengineering, Stanford University and Howard Hughes Medical Institute, Stanford, California, USA.
- These authors contributed equally to this work.
Correspondence to: Stephen R Quake1 e-mail: quake@stanford.edu
MORE ARTICLES LIKE THIS
These links to content published by NPG are automatically generated.
NEWS AND VIEWS
Faster human genome sequencingNature Biotechnology News and Views (01 Sep 2009)
Fast forward geneticsNature Biotechnology News and Views (01 Nov 2008)
See all 3 matches for News And ViewsRESEARCH
Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathyNature Genetics Letter (01 Oct 2002)
Identification of genetic variants using bar-coded multiplexed sequencingNature Methods Article (01 Oct 2008)
See all 54 matches for Research
