Please use this identifier to cite or link to this item: https://hdl.handle.net/10356/142071
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dc.contributor.authorYoo, Seong-Keunen_US
dc.contributor.authorKim, Chang-Uken_US
dc.contributor.authorKim, Hie Limen_US
dc.contributor.authorKim, Sungjaeen_US
dc.contributor.authorShin, Jong-Yeonen_US
dc.contributor.authorKim, Namcheolen_US
dc.contributor.authorYang, Joshua Sung Wooen_US
dc.contributor.authorLo, Kwok-Waien_US
dc.contributor.authorCho, Belongen_US
dc.contributor.authorMatsuda, Fumihikoen_US
dc.contributor.authorSchuster, Stephan Christophen_US
dc.contributor.authorKim, Changhoonen_US
dc.contributor.authorKim, Jong-Ilen_US
dc.contributor.authorSeo, Jeong-Sunen_US
dc.date.accessioned2020-06-15T07:50:22Z-
dc.date.available2020-06-15T07:50:22Z-
dc.date.issued2019-
dc.identifier.citationYoo, S.-K., Kim, C.-U., Kim, H. L., Kim, S., Shin, J.-Y., Kim, N., . . . Seo, J.-S. (2019). NARD : whole-genome reference panel of 1779 Northeast Asians improves imputation accuracy of rare and low-frequency variants. Genome Medicine, 11(1), 64-. doi:10.1186/s13073-019-0677-zen_US
dc.identifier.issn1756-994Xen_US
dc.identifier.urihttps://hdl.handle.net/10356/142071-
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/.en_US
dc.language.isoenen_US
dc.relation.ispartofGenome Medicineen_US
dc.rights© 2019 The Author(s). This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.en_US
dc.subjectScience::Geologyen_US
dc.titleNARD : whole-genome reference panel of 1779 Northeast Asians improves imputation accuracy of rare and low-frequency variantsen_US
dc.typeJournal Articleen
dc.contributor.schoolAsian School of the Environmenten_US
dc.contributor.schoolSchool of Biological Sciencesen_US
dc.contributor.researchSingapore Centre for Environmental Life Sciences and Engineeringen_US
dc.identifier.doi10.1186/s13073-019-0677-z-
dc.description.versionPublished versionen_US
dc.identifier.pmid31640730-
dc.identifier.scopus2-s2.0-85073720572-
dc.identifier.issue1en_US
dc.identifier.volume11en_US
dc.subject.keywordsWhole-genome Sequencingen_US
dc.subject.keywordsReference Panelen_US
item.grantfulltextopen-
item.fulltextWith Fulltext-
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