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The diploid genome sequence of an Asian individual

853 bytes added, 17:28, 8 November 2008
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<a href="http://www.nature.com/nature/journal/v456/n7218/full/nature07484.html">http://www.nature.com/nature/journal/v456/n7218/full/nature07484.html</a><br />
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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&nbsp;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.&nbsp;They also carried out heterozygote phasing and haplotype prediction against HapMap Chinese (CHB) and Japanse (JPT) haplotypes, sequence comparison with the two&nbsp;caucasion individual genomes (J. D. Watson and J. C. Venter), and structural variation identification.&nbsp;<br />