Journal
NATURE
Volume 456, Issue 7218, Pages 60-U1Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/nature07484
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Funding
- Shenzhen Municipal Government
- Yantian District local government of Shenzhen
- Shenzhen University
- National Natural Science Foundation of China [30890032, 30725008, 90403130, 90608010, 30221004, 90612019, 30392130]
- Ministry of Science and Technology of China [973 program, 2007CB815701, 2007CB815703, 2007CB815705, 863 program, 2006AA02Z334, 2006AA10A121, 2006AA02Z177]
- Chinese Academy of Sciences [GJHZ0701-6, KSCX2-YWN-023]
- Beijing Municipal Science and Technology Commission [D07030200740000]
- Danish Platform for Integrative Biology
- Ole Romer grant
- Danish Natural Science Research Council
- Danish Research Council
- Solexa project [272-07-0196]
- Lundbeck Foundation Centre of Applied Medical Genomics for Personalized Disease Prediction, Prevention and Care (LUCAMP)
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Here we present the first diploid genome sequence of an Asian individual. The genome was sequenced to 36- fold average coverage using massively parallel sequencing technology. We aligned the short reads onto the NCBI human reference genome to 99.97% coverage, and guided by the reference genome, we used uniquely mapped reads to assemble a high- quality consensus sequence for 92% of the Asian individual's genome. We identified approximately 3 million single- nucleotide polymorphisms ( SNPs) inside this region, of which 13.6% were not in the dbSNP database. Genotyping analysis showed that SNP identification had high accuracy and consistency, indicating the high sequence quality of this assembly. We also carried out heterozygote phasing and haplotype prediction against HapMap CHB and JPT haplotypes ( Chinese and Japanese, respectively), sequence comparison with the two available individual genomes ( J. D. Watson and J. C. Venter), and structural variation identification. These variations were considered for their potential biological impact. Our sequence data and analyses demonstrate the potential usefulness of next- generation sequencing technologies for personal genomics.
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