An ethnically relevant consensus Korean reference genome is a step towards personal reference genomes

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dc.contributor.authorY S Cho-
dc.contributor.authorH Kim-
dc.contributor.authorH M Kim-
dc.contributor.authorS Jho-
dc.contributor.authorJ Jun-
dc.contributor.authorY J Lee-
dc.contributor.authorK S Chae-
dc.contributor.authorC G Kim-
dc.contributor.authorS Kim-
dc.contributor.authorA Eriksson-
dc.contributor.authorJ S Edwards-
dc.contributor.authorS Lee-
dc.contributor.authorB C Kim-
dc.contributor.authorA Manica-
dc.contributor.authorTae Kwang Oh-
dc.contributor.authorG M Church-
dc.contributor.authorJ Bhak-
dc.date.accessioned2017-04-19T10:30:53Z-
dc.date.available2017-04-19T10:30:53Z-
dc.date.issued2016-
dc.identifier.issn2041-1723-
dc.identifier.uri10.1038/ncomms13637ko
dc.identifier.urihttps://oak.kribb.re.kr/handle/201005/13592-
dc.description.abstractHuman genomes are routinely compared against a universal reference. However, this strategy could miss population-specific and personal genomic variations, which may be detected more efficiently using an ethnically relevant or personal reference. Here we report a hybrid assembly of a Korean reference genome (KOREF) for constructing personal and ethnic references by combining sequencing and mapping methods. We also build its consensus variome reference, providing information on millions of variants from 40 additional ethnically homogeneous genomes from the Korean Personal Genome Project. We find that the ethnically relevant consensus reference can be beneficial for efficient variant detection. Systematic comparison of human assemblies shows the importance of assembly quality, suggesting the necessity of new technologies to comprehensively map ethnic and personal genomic structure variations. In the era of large-scale population genome projects, the leveraging of ethnicity-specific genome assemblies as well as the human reference genome will accelerate mapping all human genome diversity-
dc.publisherSpringer-Nature Pub Group-
dc.titleAn ethnically relevant consensus Korean reference genome is a step towards personal reference genomes-
dc.title.alternativeAn ethnically relevant consensus Korean reference genome is a step towards personal reference genomes-
dc.typeArticle-
dc.citation.titleNature Communications-
dc.citation.number0-
dc.citation.endPage13637-
dc.citation.startPage13637-
dc.citation.volume7-
dc.contributor.affiliatedAuthorTae Kwang Oh-
dc.contributor.alternativeName조윤성-
dc.contributor.alternativeName김현호-
dc.contributor.alternativeName김학민-
dc.contributor.alternativeName조성웅-
dc.contributor.alternativeName전제훈-
dc.contributor.alternativeName이용주-
dc.contributor.alternativeName채균식-
dc.contributor.alternativeName김창근-
dc.contributor.alternativeName김상수-
dc.contributor.alternativeNameEriksson-
dc.contributor.alternativeNameEdwards-
dc.contributor.alternativeName이세민-
dc.contributor.alternativeName김병철-
dc.contributor.alternativeNameManica-
dc.contributor.alternativeName오태광-
dc.contributor.alternativeNameChurch-
dc.contributor.alternativeName박종화-
dc.identifier.bibliographicCitationNature Communications, vol. 7, pp. 13637-13637-
dc.identifier.doi10.1038/ncomms13637-
dc.description.journalClassY-
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Division of Biomedical Research > Metabolic Regulation Research Center > 1. Journal Articles
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