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Genome Res<font size="4">A highly annotated whole-genome sequence of a Korean individual. 2009. May 26</font>&nbsp;<br />

<strong>The first Korean genome sequence and analysis: Full genome sequencing for a socio-ethnic group. <br /></strong>Ahn SMKim JI, Ju YS, Park H, Kim THS, Lee S, Yi JH, Mudge J, Miller NA, Hong D, Bell CJ, Kim HS, Chung IS, Lee WC, Lee JS, Seo SH, Yun JY, Woo HN, Lee H, Suh D, Ghang HLee S, Kim DSHJ, Yavartanoo M, Kwak M, Zheng Y, Lee MK, Park H, Kim BCJY, Kim SYGokcumen O, Kim WYMills RE, Kim CZaranek AW, Park DThakuria J, Lee YSWu X, Kim RW, Huntley JJ, Luo S, Reja RSchroth GP, Jho SWu TD, Kim CGH, Cha JYYang KS, Park WY, Kim KHH, Church GM, Lee BC, Bhak JKingsmore SF, Kim SJSeo JS. <br />Lee Gil Ya Cancer [1] Genomic Medicine Institute (GMI), Medical Research Center, Seoul National University, Seoul 110-799, Korea [2] Department of Biochemistry and Diabetes InstituteMolecular Biology, Gachon Seoul National University College of Medicine and Science, Incheon 406[3] Macrogen Inc., Seoul 153-023, Korea [4] Psoma Therapeutics, Inc., Seoul 110-799, Korea; [5] These authors contributed equally to this work. <br />

We present the first Recent advances in sequencing technologies have initiated an era of personal genome sequences. To date, human genome sequences have been reported for individuals with ancestry in three distinct geographical regions: a Yoruba African, two individuals of northwest European origin, and a person from China. Here we provide a highly annotated, whole-genome sequence for a Korean individual genome sequence (SJK) and analysis results, known as AK1. The diploid genome of a Korean male AK1 was sequenced to 28determined by an exacting, combined approach that included whole-genome shotgun sequencing (27.958x coverage), targeted bacterial artificial chromosome sequencing, and high-fold redundancy resolution comparative genomic hybridization using the Illumina paired-end sequencing methodcustom microarrays featuring more than 24 million probes. SJK covered 99.9% of Alignment to the NCBI human reference genome, a composite of several ethnic clades, disclosed nearly 3. We identified 420,083 novel 45 million single nucleotide polymorphisms (SNPs) that are not in the dbSNP database. Despite a close similarity, significant differences were observed between the Chinese genome (YH)including 10, the only other Asian genome available162 non-synonymous SNPs, and SJK: 170,202 deletion or insertion polymorphisms (1indels) 39.87% (1,371,239 out of 3,439,107) SNPs SNP and indel densities were SJKstrongly correlated genome-specific (49wide.51% against Venter's, 46Applying very conservative criteria yielded highly reliable copy number variants for clinical considerations.94% against Watson'sPotential medical phenotypes were annotated for non-synonymous SNPs, and 44.17% against the Yoruba genomes); (2) 99.5% (22coding domain indels,495 out of 22,605) of short indels (&lt; 4 bp) discovered on the same loci had the same size and type as YH; and (3) 11.3% (331 out of 2920) deletion structural variants were SJK-specific. Even after attempting to map unmapped reads The integration of SJK to unanchored NCBI scaffolds, HGSV, and available personal genomes, there were still 5.77% SJK reads that could not be mapped. All these findings indicate that the overall genetic differences among individuals several human whole-genome sequences derived from closely related several ethnic groups may be significant. Hencewill assist in understanding genetic ancestry, constructing reference genomes for minor socio-ethnic groups will be useful for massive individual genome sequencingmigration patterns and population bottlenecks.&nbsp;<br />

<a href="http://genomewww.cshlpnature.orgcom/contentnature/earlyjournal/2009vaop/06ncurrent/24full/grnature08211.092197.109.longhtml">http://genomewww.cshlpnature.orgcom/contentnature/earlyjournal/2009vaop/06ncurrent/24full/gr.092197nature08211.109.longhtml</a><br /><br /><br /><strong><font size="4">See also<br /></font></strong>[[The second Korean human genome]]