The diploid genome sequence of an Asian individual

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…

• NN
  National Natural Science Foundation of China

  Awards: 30890032, 90608010, 30221004, 90612019, 90403130, 30725008, 30392130
• CA
  Chinese Academy of Sciences

  Awards: GJHZ0701-6, KSCX2-YWN-023
• L
  Lundbeckfonden
• SU
  Shenzhen University
• BM
  Beijing Municipal Science and Technology Commission

  Award: D07030200740000
• HL
  H. Lundbeck A/S
• NH
  National High-tech Research and Development Program
• NK
  National Key Research and Development Program of China

  Awards: 2007CB815705, 2007CB815703, 2007CB815701