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

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 G...

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Autores principales: 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 C., Kim, Changhoon, Kim, Jong-Il, Seo, Jeong-Sun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6805399/
https://www.ncbi.nlm.nih.gov/pubmed/31640730
http://dx.doi.org/10.1186/s13073-019-0677-z
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author 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 C.
Kim, Changhoon
Kim, Jong-Il
Seo, Jeong-Sun
author_facet 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 C.
Kim, Changhoon
Kim, Jong-Il
Seo, Jeong-Sun
author_sort Yoo, Seong-Keun
collection PubMed
description 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/.
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spelling pubmed-68053992019-10-24 NARD: whole-genome reference panel of 1779 Northeast Asians improves imputation accuracy of rare and low-frequency variants 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 C. Kim, Changhoon Kim, Jong-Il Seo, Jeong-Sun Genome Med Database 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/. BioMed Central 2019-10-22 /pmc/articles/PMC6805399/ /pubmed/31640730 http://dx.doi.org/10.1186/s13073-019-0677-z Text en © The Author(s). 2019 Open AccessThis 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.
spellingShingle Database
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 C.
Kim, Changhoon
Kim, Jong-Il
Seo, Jeong-Sun
NARD: whole-genome reference panel of 1779 Northeast Asians improves imputation accuracy of rare and low-frequency variants
title NARD: whole-genome reference panel of 1779 Northeast Asians improves imputation accuracy of rare and low-frequency variants
title_full NARD: whole-genome reference panel of 1779 Northeast Asians improves imputation accuracy of rare and low-frequency variants
title_fullStr NARD: whole-genome reference panel of 1779 Northeast Asians improves imputation accuracy of rare and low-frequency variants
title_full_unstemmed NARD: whole-genome reference panel of 1779 Northeast Asians improves imputation accuracy of rare and low-frequency variants
title_short NARD: whole-genome reference panel of 1779 Northeast Asians improves imputation accuracy of rare and low-frequency variants
title_sort nard: whole-genome reference panel of 1779 northeast asians improves imputation accuracy of rare and low-frequency variants
topic Database
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6805399/
https://www.ncbi.nlm.nih.gov/pubmed/31640730
http://dx.doi.org/10.1186/s13073-019-0677-z
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