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

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dc.contributor.authorYoo, Seong-Keun-
dc.contributor.authorKim, Chang-Uk-
dc.contributor.authorKim, Hie Lim-
dc.contributor.authorKim, Sungjae-
dc.contributor.authorShin, Jong-Yeon-
dc.contributor.authorKim, Namcheol-
dc.contributor.authorYang, Joshua S W-
dc.contributor.authorLo, Kwok-Wai-
dc.contributor.authorCho, Belong-
dc.contributor.authorMatsuda, Fumihiko-
dc.contributor.authorSchuster, Stephan C-
dc.contributor.authorKim, Changhoon-
dc.contributor.authorKim, Jong-Il-
dc.contributor.authorSeo, Jeong-Sun-
dc.date.accessioned2020-03-03T01:26:24Z-
dc.date.available2020-03-03T10:29:10Z-
dc.date.issued2019-10-22-
dc.identifier.citationGenome Medicine, 11(1):64ko_KR
dc.identifier.issn1756-994X-
dc.identifier.uri10.1186/s13073-019-0677-z-
dc.identifier.urihttps://hdl.handle.net/10371/164400-
dc.description.abstractHere, 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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ko_KR
dc.description.sponsorshipF.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.isoenko_KR
dc.publisherBMCko_KR
dc.subjectWhole-genome sequencing-
dc.subjectReference panel-
dc.subjectGenotype imputation-
dc.subjectNortheast Asians-
dc.subjectEast Asians-
dc.titleNARD: whole-genome reference panel of 1779 Northeast Asians improves imputation accuracy of rare and low-frequency variantsko_KR
dc.typeArticleko_KR
dc.contributor.AlternativeAuthor유성균-
dc.contributor.AlternativeAuthor김창욱-
dc.contributor.AlternativeAuthor김희림-
dc.contributor.AlternativeAuthor김성재-
dc.contributor.AlternativeAuthor신종연-
dc.contributor.AlternativeAuthor김남철-
dc.contributor.AlternativeAuthor김창훈-
dc.contributor.AlternativeAuthor김종일-
dc.contributor.AlternativeAuthor서정선-
dc.citation.journaltitleGenome Medicineko_KR
dc.language.rfc3066en-
dc.rights.holderThe Author(s).-
dc.date.updated2019-10-27T06:30:03Z-
dc.citation.number1ko_KR
dc.citation.startpage64ko_KR
dc.citation.volume11ko_KR
Appears in Collections:
College of Medicine/School of Medicine (의과대학/대학원)Dept. of Biomedical Sciences (대학원 의과학과)Journal Papers (저널논문_의과학과)
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