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Bhak, Jong
The Genomics Institute of UNIST (TGI)
Research Interests
  • Geromics, genomics, bioinformatics, protein Engineering, OMICS

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

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Title
An ethnically relevant consensus Korean reference genome is a step towards personal reference genomes
Author
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
Issue Date
201611
Publisher
NATURE PUBLISHING GROUP
Citation
NATURE COMMUNICATIONS, v.7, no., 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.
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DOI
http://dx.doi.org/10.1038/ncomms13637
ISSN
2041-1723
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SLS_Journal Papers
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