A highly annotated whole-genome sequence of a Korean individual.
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, known as AK1. The genome of AK1 was determined by an exacting, combined approach that included whole-genome shotgun sequencing (27.8x coverage), targeted bacterial artificial chromosome sequencing, and high-resolution comparative genomic hybridization using custom microarrays featuring more than 24 million probes. Alignment to the NCBI reference, a composite of several ethnic clades, disclosed nearly 3.45 million single nucleotide polymorphisms (SNPs), including 10,162 non-synonymous SNPs, and 170,202 deletion or insertion polymorphisms (indels). SNP and indel densities were strongly correlated genome-wide. Applying very conservative criteria yielded highly reliable copy number variants for clinical considerations. Potential medical phenotypes were annotated for non-synonymous SNPs, coding domain indels, and structural variants. The integration of several human whole-genome sequences derived from several ethnic groups will assist in understanding genetic ancestry, migration patterns and population bottlenecks.
Kim
Jong-Il
JI
Genomic Medicine Institute, Medical Research Center, Seoul National University, Seoul 110-799, Korea.
Ju
Young Seok
YS
Park
Hansoo
H
Kim
Sheehyun
S
Lee
Seonwook
S
Yi
Jae-Hyuk
JH
Mudge
Joann
J
Miller
Neil A
NA
Hong
Dongwan
D
Bell
Callum J
CJ
Kim
Hye-Sun
HS
Chung
In-Soon
IS
Lee
Woo-Chung
WC
Lee
Ji-Sun
JS
Seo
Seung-Hyun
SH
Yun
Ji-Young
JY
Woo
Hyun Nyun
HN
Lee
Heewook
H
Suh
Dongwhan
D
Lee
Seungbok
S
Kim
Hyun-Jin
HJ
Yavartanoo
Maryam
M
Kwak
Minhye
M
Zheng
Ying
Y
Lee
Mi Kyeong
MK
Park
Hyunjun
H
Kim
Jeong Yeon
JY
Gokcumen
Omer
O
Mills
Ryan E
RE
Zaranek
Alexander Wait
AW
Thakuria
Joseph
J
Wu
Xiaodi
X
Kim
Ryan W
RW
Huntley
Jim J
JJ
Luo
Shujun
S
Schroth
Gary P
GP
Wu
Thomas D
TD
Kim
HyeRan
H
Yang
Kap-Seok
KS
Park
Woong-Yang
WY
Kim
Hyungtae
H
Church
George M
GM
Lee
Charles
C
Kingsmore
Stephen F
SF
Seo
Jeong-Sun
JS
D044466:Asian People / Q000235:genetics*; D022202:Chromosomes, Artificial, Bacterial / Q000235:genetics; D055028:Comparative Genomic Hybridization; D019295:Computational Biology; D015894:Genome, Human / Q000235:genetics*; D006801:Humans; D054643:INDEL Mutation / Q000235:genetics; D007723:Korea; D020411:Oligonucleotide Array Sequence Analysis; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D017422:Sequence Analysis, DNA