Please use this identifier to cite or link to this item: https://hdl.handle.net/10356/142071
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 https://nard.macrogen.com/.
URI: https://hdl.handle.net/10356/142071
ISSN: 1756-994X
DOI: 10.1186/s13073-019-0677-z
Rights: © 2019 The Author(s). This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), 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 (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
Fulltext Permission: open
Fulltext Availability: With Fulltext
Appears in Collections:ASE Journal Articles

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