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

Genome Med. 2019 Oct 22;11(1):64. doi: 10.1186/s13073-019-0677-z.

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/ .

Keywords: East Asians; Genotype imputation; Northeast Asians; Reference panel; Whole-genome sequencing.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Asian People / genetics*
  • Gene Frequency
  • Genetics, Population*
  • Genome, Human*
  • Genome-Wide Association Study*
  • Genotype
  • Humans
  • Polymorphism, Single Nucleotide*
  • Reference Standards
  • Whole Genome Sequencing / methods*
  • Whole Genome Sequencing / standards*