The First Korean Genome


The first Korean genome sequence and analysis: Full genome sequencing for a socio-ethnic group


Genome Res. 2009 Sep; 19(9): 1622–1629.

Sung-Min Ahn,1,5,7 Tae-Hyung Kim,2,7 Sunghoon Lee,2,7 Deokhoon Kim,1 Ho Ghang,2 Dae-Soo Kim,2 Byoung-Chul Kim,2 Sang-Yoon Kim,2 Woo-Yeon Kim,2 Chulhong Kim,2 Daeui Park,2 Yong Seok Lee,2 Sangsoo Kim,3 Rohit Reja,2 Sungwoong Jho,2 Chang Geun Kim,6 Ji-Young Cha,1 Kyung-Hee Kim,4 Bonghee Lee,1 Jong Bhak,2,8 and Seong-Jin Kim1,8


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.

The history of Korean genome and Korean reference genome development