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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
- Issue Date
- 2019-10-22
- Publisher
- BMC
- Citation
- Genome Medicine, 11(1):64
- Keywords
- Whole-genome sequencing ; Reference panel ; Genotype imputation ; Northeast Asians ; East 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/
.
- ISSN
- 1756-994X
- Language
- English
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