NARD: whole-genome reference panel of 1779 Northeast Asians improves imputation accuracy of rare and low-frequency variants

被引：33

作者：

Yoo, Seong-Keun ^{[1
,2
]}

Kim, Chang-Uk ^{[2
,3
]}

Kim, Hie Lim ^{[4
,5
]}

Kim, Sungjae ^{[2
,3
]}

Shin, Jong-Yeon ^{[2
]}

Kim, Namcheol ^{[2
]}

Yang, Joshua Sung Woo ^{[2
]}

Lo, Kwok-Wai ^{[6
,7
]}

Cho, Belong ^{[8
]}

Matsuda, Fumihiko ^{[9
]}

Schuster, Stephan C. ^{[5
,10
]}

Kim, Changhoon ^{[2
]}

Kim, Jong-Il ^{[3
,11
]}

Seo, Jeong-Sun ^{[1
,2
,3
,11
,12
]}

机构：

[1] Seoul Natl Univ, Bundang Hosp, Precis Med Ctr, 172 Dolma Ro, Seongnam 13605, Gyeonggi Do, South Korea

[2] Macrogen Inc, Precis Med Inst, Seongnam, South Korea

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

[4] Nanyang Technol Univ, Asian Sch Environm, Singapore, Singapore

[5] Nanyang Technol Univ, Singapore Ctr Environm Life Sci Engn, Singapore, Singapore

[6] Chinese Univ Hong Kong, Dept Anat & Cellular Pathol, Hong Kong, Peoples R China

[7] Chinese Univ Hong Kong, State Key Lab Translat Oncol, Hong Kong, Peoples R China

[8] Seoul Natl Univ Hosp, Dept Family Med, Seoul, South Korea

[9] Kyoto Univ, Ctr Genom Med, Grad Sch Med, Kyoto, Japan

[10] Nanyang Technol Univ, Sch Biol Sci, Singapore, Singapore

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

[12] Seoul Natl Univ, Gong Wu Genom Med Inst, Bundang Hosp, Seongnam, South Korea

来源：

GENOME MEDICINE | 2019年 / 11卷 / 01期

关键词：

Whole-genome sequencing; Reference panel; Genotype imputation; Northeast Asians; East Asians; SEQUENCE; ASSOCIATION; DIVERSITY; DATABASE; DNA; HAPLOTYPES; GUIDELINES; DISCOVERY; FRAMEWORK; GENETICS;

D O I：

10.1186/s13073-019-0677-z

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Here, we present the Northeast Asian Reference Database (NARD), including whole-genome sequencing data of 1779 individuals from Korea, Mongolia, Japan, China, and Hong Kong. NARD provides the genetic diversity of Korean (n = 850) and Mongolian (n = 384) ancestries that were not present in the 1000 Genomes Project Phase 3 (1KGP3). We combined and re-phased the genotypes from NARD and 1KGP3 to construct a union set of haplotypes. This approach established a robust imputation reference panel for Northeast Asians, which yields the greatest imputation accuracy of rare and low-frequency variants compared with the existing panels. NARD imputation panel is available at .

引用

页数：10

共 46 条

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