The diploid genome sequence of an Asian individual.
作者： Jun Wang , Wei Wang , Ruiqiang Li , Yingrui Li , Geng Tian
DOI: 10.1038/NATURE07484
关键词: Genome 、 dbSNP 、 International HapMap Project 、 Human genome 、 Genetics 、 Genomics 、 Genome project 、 Cancer genome sequencing 、 Reference genome 、 Computational biology 、 Biology
摘要: Here we present the first diploid genome sequence of an Asian individual. The was sequenced to 36-fold average coverage using massively parallel sequencing technology. We aligned short reads onto NCBI human reference 99.97% coverage, and guided by genome, used uniquely mapped assemble a high-quality consensus for 92% individual's genome. identified approximately 3 million single-nucleotide polymorphisms (SNPs) inside this region, which 13.6% were not in dbSNP database. Genotyping analysis showed that SNP identification had high accuracy consistency, indicating quality assembly. also carried out heterozygote phasing haplotype prediction against HapMap CHB JPT haplotypes (Chinese Japanese, respectively), comparison with two available individual genomes (J. D. Watson J. C. Venter), structural variation identification. These variations considered their potential biological impact. Our data analyses demonstrate usefulness next-generation technologies personal genomics.
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