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Lee, Semin
Computational Biology Lab.
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An ethnically relevant consensus Korean reference genome is a step towards personal reference genomes

Author(s)
Cho, Yun SungKim, HyunhoKim, Hak-MinJho, SungwoongJun, JehoonLee, Yong JuChae, Kyun ShikKim, Chang GeunKim, SangsooEriksson, AndersEdwards, Jerermy S.Lee, SeminKim, Byung C.hulManica, AndreaOh, Tae-KwangChurch, George M.Bhak, Jong
Issued Date
2016-11
DOI
10.1038/ncomms13637
URI
https://scholarworks.unist.ac.kr/handle/201301/21001
Fulltext
http://www.nature.com/articles/ncomms13637
Citation
NATURE COMMUNICATIONS, v.7, pp.13637
Abstract
Human 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.
Publisher
NATURE PUBLISHING GROUP
ISSN
2041-1723
Keyword
MOLECULE SEQUENCING READSSTRUCTURAL VARIATIONDATABASETOOLPOLYMORPHISMSARCHITECTUREASSOCIATIONNEANDERTHALPOPULATIONASSEMBLIES

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