期刊
GENOME MEDICINE
卷 11, 期 1, 页码 -出版社
BMC
DOI: 10.1186/s13073-019-0677-z
关键词
Whole-genome sequencing; Reference panel; Genotype imputation; Northeast Asians; East Asians
资金
- Japan Agency for Medical Research and Development [JP18kk0205008h0003, JP16ek0109070h0003, JP18ek0109283h0001]
- Research Grant Council, Hong Kong [T12401/13-R]
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 .
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据