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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NARD_ whole-genome reference panel of 1779 Northeast Asians improves imputation accuracy of rare and low-frequency variants.pdf | 1.1 MB | Adobe PDF | View/Open |
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