한빛사 논문
Seong-Keun Yoo1,2,†, Chang-Uk Kim2,3,†, Hie Lim Kim4,5,†, Sungjae Kim2,3,†, Jong-Yeon Shin2, Namcheol Kim2, Joshua Sung Woo Yang2, Kwok-Wai Lo6, Belong Cho7, Fumihiko Matsuda8, Stephan C. Schuster5,9, Changhoon Kim2, Jong-Il Kim3,10 and Jeong-Sun Seo1,2,3,10,11*
1 Precision Medicine Center, Seoul National University Bundang Hospital, 172 Dolma-ro, Seongnam, Bundang-gu, Gyeonggi-do 13605, Republic of Korea.
2 Precision Medicine Institute, Macrogen Inc., Seongnam, Republic of Korea.
3 Department of Biomedical Sciences, Seoul National University Graduate School, Seoul, Republic of Korea.
4 The Asian School of the Environment, Nanyang Technological University, Singapore, Singapore.
5 Singapore Centre for Environmental Life Sciences Engineering, Nanyang Technological University, Singapore, Singapore.
6 Department of Anatomical & Cellular Pathology and State Key Laboratory of Translational Oncology, The Chinese University of Hong Kong, Hong Kong, China.
7 Department of Family Medicine, Seoul National University Hospital, Seoul, Republic of Korea.
8 Center for Genomic Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan.
9 School of Biological Science, Nanyang Technological University, Singapore, Singapore.
10 Genomic Medicine Institute, Medical Research Center, Seoul National University, Seoul, Republic of Korea.
11 Gong-Wu Genomic Medicine Institute, Seoul National University Bundang Hospital, Seongnam, Republic of Korea.
†Seong-Keun Yoo, Chang-Uk Kim, Hie Lim Kim and Sungjae Kim contributed equally to this work.
*Correspondence : Jeong-Sun Seo
Abstract
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 https://nard.macrogen.com/.
Keywords: Whole-genome sequencing, Reference panel, Genotype imputation, Northeast Asians, East Asians
논문정보
관련 링크
연구자 키워드
연구자 ID
관련분야 연구자보기
관련분야 논문보기