Extensive genomic and transcriptional diversity identified through massively parallel DNA and RNA sequencing of eighteen Korean individuals

被引：110

作者：

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

Kim, Jong-Il ^{[1
,3
,4
,5
]}

Kim, Sheehyun ^{[1
,2
]}

Hong, Dongwan ^{[1
]}

Park, Hansoo ^{[1
,6
,7
]}

Shin, Jong-Yeon ^{[1
,5
]}

Lee, Seungbok ^{[1
,4
]}

Lee, Won-Chul ^{[1
,4
]}

Kim, Sujung ^{[5
]}

Yu, Saet-Byeol ^{[5
]}

Park, Sung-Soo ^{[5
]}

Seo, Seung-Hyun ^{[5
]}

Yun, Ji-Young ^{[5
]}

Kim, Hyun-Jin ^{[1
,4
]}

Lee, Dong-Sung ^{[1
,4
]}

Yavartanoo, Maryam ^{[1
,4
]}

Kang, Hyunseok Peter ^{[1
]}

Gokcumen, Omer ^{[6
,7
]}

Govindaraju, Diddahally R. ^{[6
,7
]}

Jung, Jung Hee ^{[2
]}

Chong, Hyonyong ^{[2
,8
]}

Yang, Kap-Seok ^{[2
]}

Kim, Hyungtae ^{[2
]}

Lee, Charles ^{[6
,7
]}

Seo, Jeong-Sun ^{[1
,2
,3
,4
,5
,8
]}

机构：

[1] Seoul Natl Univ, Med Res Ctr, GMI, Seoul, South Korea

[2] Macrogen Inc, Seoul, South Korea

[3] Seoul Natl Univ, Coll Med, Dept Biochem, Seoul, South Korea

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

[5] Psoma Therapeut Inc, Seoul, South Korea

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

[7] Harvard Univ, Sch Med, Boston, MA USA

[8] Axeq Technol, Rockville, MD USA

来源：

NATURE GENETICS | 2011年 / 43卷 / 08期

基金：

美国国家卫生研究院;

关键词：

GENE-EXPRESSION; STRUCTURAL VARIANTS; EDITING SITES; FAMILY; COMMON; SNP;

D O I：

10.1038/ng.872

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Massively parallel sequencing technologies have identified a broad spectrum of human genome diversity. Here we deep sequenced and correlated 18 genomes and 17 transcriptomes of unrelated Korean individuals. This has allowed us to construct a genome-wide map of common and rare variants and also identify variants formed during DNA-RNA transcription. We identified 9.56 million genomic variants, 23.2% of which appear to be previously unidentified. From transcriptome sequencing, we discovered 4,414 transcripts not previously annotated. Finally, we revealed 1,809 sites of transcriptional base modification, where the transcriptional landscape is different from the corresponding genomic sequences, and 580 sites of allele-specific expression. Our findings suggest that a considerable number of unexplored genomic variants still remain to be identified in the human genome, and that the integrated analysis of genome and transcriptome sequencing is powerful for understanding the diversity and functional aspects of human genomic variants.

引用

页码：745 / U47

页数：10

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