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

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Authors
Yoo, Seong-Keun; Kim, Chang-Uk; Kim, Hie Lim; Kim, Sungjae; Shin, Jong-Yeon; Kim, Namcheol; Yang, Joshua S W; Lo, Kwok-Wai; Cho, Belong; Matsuda, Fumihiko; Schuster, Stephan C; Kim, Changhoon; Kim, Jong-Il; Seo, Jeong-Sun
Issue Date
2019-10-22
Publisher
BMC
Citation
Genome Medicine, 11(1):64
Keywords
Whole-genome sequencingReference panelGenotype imputationNortheast AsiansEast Asians
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/

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ISSN
1756-994X
Language
English
URI
https://doi.org/10.1186/s13073-019-0677-z

https://hdl.handle.net/10371/164400
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College of Medicine/School of Medicine (의과대학/대학원)Dept. of Biomedical Sciences (대학원 의과학과)Journal Papers (저널논문_의과학과)
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