Publications
Detailed Information
NARD: whole-genome reference panel of 1779 Northeast Asians improves imputation accuracy of rare and low-frequency variants
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Yoo, Seong-Keun | - |
dc.contributor.author | Kim, Chang-Uk | - |
dc.contributor.author | Kim, Hie Lim | - |
dc.contributor.author | Kim, Sungjae | - |
dc.contributor.author | Shin, Jong-Yeon | - |
dc.contributor.author | Kim, Namcheol | - |
dc.contributor.author | Yang, Joshua S W | - |
dc.contributor.author | Lo, Kwok-Wai | - |
dc.contributor.author | Cho, Belong | - |
dc.contributor.author | Matsuda, Fumihiko | - |
dc.contributor.author | Schuster, Stephan C | - |
dc.contributor.author | Kim, Changhoon | - |
dc.contributor.author | Kim, Jong-Il | - |
dc.contributor.author | Seo, Jeong-Sun | - |
dc.date.accessioned | 2020-03-03T01:26:24Z | - |
dc.date.available | 2020-03-03T10:29:10Z | - |
dc.date.issued | 2019-10-22 | - |
dc.identifier.citation | Genome Medicine, 11(1):64 | ko_KR |
dc.identifier.issn | 1756-994X | - |
dc.identifier.uri | 10.1186/s13073-019-0677-z | - |
dc.identifier.uri | https://hdl.handle.net/10371/164400 | - |
dc.description.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/ . | ko_KR |
dc.description.sponsorship | F.M. is supported by the Japan Agency for Medical Research and Development under grant numbers JP18kk0205008h0003, JP16ek0109070h0003, and JP18ek0109283h0001. K.-W.L. is funded by the
Research Grant Council, Hong Kong (Theme-based Research Scheme: T12-401/13-R). | ko_KR |
dc.language.iso | en | ko_KR |
dc.publisher | BMC | ko_KR |
dc.subject | Whole-genome sequencing | - |
dc.subject | Reference panel | - |
dc.subject | Genotype imputation | - |
dc.subject | Northeast Asians | - |
dc.subject | East Asians | - |
dc.title | NARD: whole-genome reference panel of 1779 Northeast Asians improves imputation accuracy of rare and low-frequency variants | ko_KR |
dc.type | Article | ko_KR |
dc.contributor.AlternativeAuthor | 유성균 | - |
dc.contributor.AlternativeAuthor | 김창욱 | - |
dc.contributor.AlternativeAuthor | 김희림 | - |
dc.contributor.AlternativeAuthor | 김성재 | - |
dc.contributor.AlternativeAuthor | 신종연 | - |
dc.contributor.AlternativeAuthor | 김남철 | - |
dc.contributor.AlternativeAuthor | 김창훈 | - |
dc.contributor.AlternativeAuthor | 김종일 | - |
dc.contributor.AlternativeAuthor | 서정선 | - |
dc.citation.journaltitle | Genome Medicine | ko_KR |
dc.language.rfc3066 | en | - |
dc.rights.holder | The Author(s). | - |
dc.date.updated | 2019-10-27T06:30:03Z | - |
dc.citation.number | 1 | ko_KR |
dc.citation.startpage | 64 | ko_KR |
dc.citation.volume | 11 | ko_KR |
- Appears in Collections:
- Files in This Item:
Item View & Download Count
Items in S-Space are protected by copyright, with all rights reserved, unless otherwise indicated.