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

• Main Authors: Yoo, Seong-Keun, Kim, Chang-Uk, Kim, Hie Lim, Kim, Sungjae, Shin, Jong-Yeon, Kim, Namcheol, Yang, Joshua Sung Woo, Lo, Kwok-Wai, Cho, Belong, Matsuda, Fumihiko, Schuster, Stephan Christoph, Kim, Changhoon, Kim, Jong-Il, Seo, Jeong-Sun
• Other Authors: Asian School of the Environment
• Format: Article
• Language: English
• Published: 2020
• Subjects: Science::Geology; Whole-genome Sequencing; Reference Panel
• Online Access: https://hdl.handle.net/10356/142071
• Institution: Nanyang Technological University

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/.