NARD: whole-genome reference panel of 1779 Northeast Asians improves imputation accuracy of rare and low-frequency variants.
Genome Med
; 11(1): 64, 2019 10 22.
Article
en En
| MEDLINE
| ID: mdl-31640730
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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Asunto principal:
Genoma Humano
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Polimorfismo de Nucleótido Simple
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Pueblo Asiatico
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Estudio de Asociación del Genoma Completo
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Secuenciación Completa del Genoma
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Genética de Población
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En
Revista:
Genome Med
Año:
2019
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Article