The first Korean genome sequence and analysis: full genome sequencing for a socio-ethnic group.
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.
Ahn
Sung-Min
SM
Lee Gil Ya Cancer and Diabetes Institute, Gachon University of Medicine and Science, Incheon 406-799, Korea.
Kim
Tae-Hyung
TH
Lee
Sunghoon
S
Kim
Deokhoon
D
Ghang
Ho
H
Kim
Dae-Soo
DS
Kim
Byoung-Chul
BC
Kim
Sang-Yoon
SY
Kim
Woo-Yeon
WY
Kim
Chulhong
C
Park
Daeui
D
Lee
Yong Seok
YS
Kim
Sangsoo
S
Reja
Rohit
R
Jho
Sungwoong
S
Kim
Chang Geun
CG
Cha
Ji-Young
JY
Kim
Kyung-Hee
KH
Lee
Bonghee
B
Bhak
Jong
J
Kim
Seong-Jin
SJ
D044466:Asian People / Q000235:genetics*; D019295:Computational Biology / Q000379:methods; D030541:Databases, Genetic; D005260:Female; D015894:Genome, Human / Q000235:genetics*; D023281:Genomics / Q000379:methods; D006801:Humans; D054643:INDEL Mutation; D007723:Korea; D008297:Male; D020411:Oligonucleotide Array Sequence Analysis; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D012015:Reference Standards; D017422:Sequence Analysis, DNA / Q000379:methods*