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Title: NARD : whole-genome reference panel of 1779 Northeast Asians improves imputation accuracy of rare and low-frequency variants
Authors: Yoo, Seong-Keun
Kim, Chang-Uk
Kim, Hie Lim
Kim, Sungjae
Shin, Jong-Yeon
Kim, Namcheol
Yang, Joshua Sung Woo
Lo, Kwok-Wai
Cho, Belong
Matsuda, Fumihiko
Schuster, Stephan Christoph
Kim, Changhoon
Kim, Jong-Il
Seo, Jeong-Sun
Keywords: Science::Geology
Issue Date: 2019
Source: Yoo, S.-K., Kim, C.-U., Kim, H. L., Kim, S., Shin, J.-Y., Kim, N., . . . Seo, J.-S. (2019). NARD : whole-genome reference panel of 1779 Northeast Asians improves imputation accuracy of rare and low-frequency variants. Genome Medicine, 11(1), 64-. doi:10.1186/s13073-019-0677-z
Journal: Genome Medicine
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
ISSN: 1756-994X
DOI: 10.1186/s13073-019-0677-z
Schools: Asian School of the Environment 
School of Biological Sciences 
Research Centres: Singapore Centre for Environmental Life Sciences and Engineering 
Rights: © 2019 The Author(s). This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (, which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver ( applies to the data made available in this article, unless otherwise stated.
Fulltext Permission: open
Fulltext Availability: With Fulltext
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