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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...
Autores principales: | , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2019
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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/. |
format | Online Article Text |
id | pubmed-6805399 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
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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