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

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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Main 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
其他作者: Asian School of the Environment
格式: Article
語言:English
出版: 2020
主題:
Science::Geology
Whole-genome Sequencing
Reference Panel
在線閱讀:https://hdl.handle.net/10356/142071
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機構: Nanyang Technological University
語言: English
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總結: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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