RT Journal
A1 Ahn, Sung-Min
A1 Kim, Tae-Hyung
A1 Lee, Sunghoon
A1 Kim, Deokhoon
A1 Ghang, Ho
A1 Kim, Dae-Soo
A1 Kim, Byoung-Chul
A1 Kim, Sang-Yoon
A1 Kim, Woo-Yeon
A1 Kim, Chulhong
A1 Park, Daeui
A1 Lee, Yong Seok
A1 Kim, Sangsoo
A1 Reja, Rohit
A1 Jho, Sungwoong
A1 Kim, Chang Geun
A1 Cha, Ji-Young
A1 Kim, Kyung-Hee
A1 Lee, Bonghee
A1 Bhak, Jong
A1 Kim, Seong-Jin
T1 The first Korean genome sequence and analysis: Full genome sequencing for a socio-ethnic group
JF Genome Research 
JO Genome Research 
YR 2009 
FD September 01 
VO 19 
IS 9 
SP 1622 
OP 1629 
DO 10.1101/gr.092197.109 
UL http://genome.cshlp.org/content/19/9/1622.abstract 
AB We present the first Korean individual genome sequence (SJK) and analysis results. The diploid genome of a Korean male was sequenced to 28.95-fold redundancy using the Illumina paired-end sequencing method. SJK covered 99.9% of the NCBI human reference genome. We identified 420,083 novel single nucleotide polymorphisms (SNPs) that are not in the dbSNP database. Despite a close similarity, significant differences were observed between the Chinese genome (YH), the only other Asian genome available, and SJK: (1) 39.87% (1,371,239 out of 3,439,107) SNPs were SJK-specific (49.51% against Venter's, 46.94% against Watson's, and 44.17% against the Yoruba genomes); (2) 99.5% (22,495 out of 22,605) of short indels (< 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 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 from closely related ethnic groups may be significant. Hence, constructing reference genomes for minor socio-ethnic groups will be useful for massive individual genome sequencing.