A highly annotated whole-genome sequence of a Korean individual

被引：240

作者：

Kim, Jong-Il ^{[1
,2
,4
,5
]}

Ju, Young Seok ^{[1
,2
]}

Park, Hansoo ^{[1
,5
]}

Kim, Sheehyun ^{[4
]}

Lee, Seonwook ^{[4
]}

Yi, Jae-Hyuk ^{[1
]}

Mudge, Joann ^{[6
]}

Miller, Neil A. ^{[6
]}

Hong, Dongwan ^{[1
]}

Bell, Callum J. ^{[6
]}

Kim, Hye-Sun ^{[4
]}

Chung, In-Soon ^{[4
]}

Lee, Woo-Chung ^{[4
]}

Lee, Ji-Sun ^{[4
]}

Seo, Seung-Hyun ^{[5
]}

Yun, Ji-Young ^{[5
]}

Woo, Hyun Nyun ^{[4
]}

Lee, Heewook ^{[4
]}

Suh, Dongwhan ^{[1
,2
,3
]}

Lee, Seungbok ^{[1
,2
,3
]}

Kim, Hyun-Jin ^{[1
,3
]}

Yavartanoo, Maryam ^{[1
,2
]}

Kwak, Minhye ^{[1
,2
]}

Zheng, Ying ^{[1
,2
]}

Lee, Mi Kyeong ^{[5
]}

Park, Hyunjun ^{[1
]}

Kim, Jeong Yeon ^{[1
]}

Gokcumen, Omer ^{[7
]}

Mills, Ryan E. ^{[6
,7
]}

Zaranek, Alexander Wait ^{[8
]}

Thakuria, Joseph ^{[8
]}

Wu, Xiaodi ^{[8
]}

Kim, Ryan W.

Huntley, Jim J. ^{[9
]}

Luo, Shujun ^{[9
]}

Schroth, Gary P. ^{[9
]}

Wu, Thomas D. ^{[10
]}

Kim, HyeRan ^{[4
]}

Yang, Kap-Seok ^{[4
]}

Park, Woong-Yang ^{[1
,2
,3
]}

Kim, Hyungtae ^{[4
]}

Church, George M. ^{[8
]}

Lee, Charles ^{[7
]}

Kingsmore, Stephen F. ^{[6
]}

Seo, Jeong-Sun ^{[1
,2
,3
,4
,5
]}

机构：

[1] Seoul Natl Univ, Med Res Ctr, Genom Med Inst, Seoul 110799, South Korea

[2] Seoul Natl Univ, Grad Sch, Coll Med, Dept Biochem & Mol Biol, Seoul 110799, South Korea

[3] Seoul Natl Univ, Grad Sch, Dept Biomed Sci, Seoul 110799, South Korea

[4] Macrogen Inc, Seoul 153023, South Korea

[5] Psoma Therapeut Inc, Seoul 110799, South Korea

[6] Natl Ctr Genome Resources, Santa Fe, NM 87505 USA

[7] Brigham & Womens Hosp, Dept Pathol, Boston, MA 02115 USA

[8] Harvard Univ, Sch Med, Dept Genet, Boston, MA 02115 USA

[9] Illumina Inc, Hayward, CA 94545 USA

[10] Genentech Inc, Dept Bioinformat, San Francisco, CA 94080 USA

来源：

NATURE | 2009年 / 460卷 / 7258期

基金：

美国国家卫生研究院;

关键词：

MESSENGER-RNA;

D O I：

10.1038/nature08211

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

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(1-4). 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 shot-gun 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(5,6), 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.

引用

页码：1011 / U96

页数：6

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