Korean Genome Project: 1094 Korean personal genomes with clinical information

被引：59

作者：

Jeon, Sungwon ^{[1
,2
]}

Bhak, Youngjune ^{[1
,2
,3
]}

Choi, Yeonsong ^{[1
,2
]}

Jeon, Yeonsu ^{[1
,2
]}

Kim, Seunghoon ^{[1
,2
]}

Jang, Jaeyoung ^{[1
]}

Jang, Jinho ^{[1
,2
]}

Blazyte, Asta ^{[1
]}

Kim, Changjae ^{[1
,3
]}

Kim, Yeonkyung ^{[1
]}

Shim, Jungae ^{[1
]}

Kim, Nayeong ^{[1
]}

Kim, Yeo Jin ^{[1
]}

Park, Seung Gu ^{[1
]}

Kim, Jungeun ^{[4
]}

Cho, Yun Sung ^{[3
]}

Park, Yeshin ^{[3
]}

Kim, Hak-Min ^{[1
,2
,3
]}

Kim, Byoung-Chul ^{[3
]}

Park, Neung-Hwa ^{[5
,6
]}

Shin, Eun-Seok ^{[7
]}

Kim, Byung Chul ^{[3
]}

Bolser, Dan ^{[3
]}

Manica, Andrea ^{[8
]}

Edwards, Jeremy S. ^{[9
,10
]}

Church, George ^{[11
]}

Lee, Semin ^{[1
,2
]}

Bhak, Jong ^{[1
,2
,3
,4
]}

机构：

[1] Ulsan Natl Inst Sci & Technol UNIST, Korean Genom Ctr KOGIC, Ulsan 44919, South Korea

[2] UNIST, Sch Life Sci, Dept Biomed Engn, Ulsan 44919, South Korea

[3] Clinomics Inc, Ulsan 44919, South Korea

[4] Genome Res Fdn GRF, Personal Genom Inst PGI, Osong 28160, South Korea

[5] Univ Ulsan, Ulsan Univ Hosp, Dept Internal Med, Coll Med, Ulsan 44033, South Korea

[6] Univ Ulsan, Ulsan Univ Hosp, Biomed Res Ctr, Coll Med, Ulsan 44033, South Korea

[7] Ulsan Med Ctr, Dept Internal Med, Div Cardiol, Ulsan 44686, South Korea

[8] Univ Cambridge, Dept Zool, Downing St, Cambridge CB2 3EJ, England

[9] Univ New Mexico, Dept Chem & Chem Biol, Albuquerque, NM 87106 USA

[10] Univ New Mexico, Comprehens Canc Ctr, Albuquerque, NM 87106 USA

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

来源：

SCIENCE ADVANCES | 2020年 / 6卷 / 22期

关键词：

WIDE ASSOCIATION; ALPHA-ADDUCIN; MUTATIONS; TOOL; GENOTYPE; POLYMORPHISMS; SEQUENCE; DATABASE;

D O I：

10.1126/sciadv.aaz7835

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：

We present the initial phase of the Korean Genome Project (Korea1K), including 1094 whole genomes (sequenced at an average depth of 31x), along with data of 79 quantitative clinical traits. We identified 39 million single-nucleotide variants and indels of which half were singleton or doubleton and detected Korean-specific patterns based on several types of genomic variations. A genome-wide association study illustrated the power of whole-genome sequences for analyzing clinical traits, identifying nine more significant candidate alleles than previously reported from the same linkage disequilibrium blocks. Also, Korea1K, as a reference, showed better imputation accuracy for Koreans than the 1KGP panel. As proof of utility, germline variants in cancer samples could be filtered out more effectively when the Korea1K variome was used as a panel of normals compared to non-Korean variome sets. Overall, this study shows that Korea1K can be a useful genotypic and phenotypic resource for clinical and ethnogenetic studies.

引用

页数：11

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