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


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/ .

SUBMITTER: Yoo SK 

PROVIDER: S-EPMC6805399 | biostudies-other | 2019 Oct

REPOSITORIES: biostudies-other

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

Yoo Seong-Keun SK   Kim Chang-Uk CU   Kim Hie Lim HL   Kim Sungjae S   Shin Jong-Yeon JY   Kim Namcheol N   Yang Joshua Sung Woo JSW   Lo Kwok-Wai KW   Cho Belong B   Matsuda Fumihiko F   Schuster Stephan C SC   Kim Changhoon C   Kim Jong-Il JI   Seo Jeong-Sun JS  

Genome medicine 20191022 1


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 No  ...[more]

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