The diploid genome sequence of an Asian individual


BGI of China, in Beijing, has published a paper on a Chinese person. It is a diploid genome sequence. The genome was sequenced to 36-fold average coverage using Solexa machines. They used the NCBI human reference to reach to to 99.97% coverage. They identified approximately 3 million single-nucleotide polymorphisms (SNPs) inside this region. 13.6% of them were not in the NCBI's dbSNP database. They also carried out heterozygote phasing and haplotype prediction against HapMap Chinese (CHB) and Japanse (JPT) haplotypes, sequence comparison with the two caucasion individual genomes (J. D. Watson and J. C. Venter), and structural variation identification. 

The diploid genome sequence of a Chinese individual was sequenced, BGI, China

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