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

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  • Yun Sung Cho

    (The Genomics Institute (TGI), Ulsan National Institute of Science and Technology (UNIST)
    School of Life Sciences, Ulsan National Institute of Science and Technology (UNIST)
    Personal Genomics Institute, Genome Research Foundation)

  • Hyunho Kim

    (Geromics Inc., Ulsan National Institute of Science and Technology (UNIST))

  • Hak-Min Kim

    (The Genomics Institute (TGI), Ulsan National Institute of Science and Technology (UNIST)
    School of Life Sciences, Ulsan National Institute of Science and Technology (UNIST))

  • Sungwoong Jho

    (Personal Genomics Institute, Genome Research Foundation)

  • JeHoon Jun

    (Personal Genomics Institute, Genome Research Foundation
    Geromics Inc., Ulsan National Institute of Science and Technology (UNIST))

  • Yong Joo Lee

    (Geromics Inc., Ulsan National Institute of Science and Technology (UNIST))

  • Kyun Shik Chae

    (National Standard Reference Center, Korea Research Institute of Standards and Science)

  • Chang Geun Kim

    (National Standard Reference Center, Korea Research Institute of Standards and Science)

  • Sangsoo Kim

    (School of Systems Biomedical Science, Soongsil University)

  • Anders Eriksson

    (University of Cambridge)

  • Jeremy S. Edwards

    (Chemistry and Chemical Biology, UNM Comprehensive Cancer Center, University of New Mexico)

  • Semin Lee

    (The Genomics Institute (TGI), Ulsan National Institute of Science and Technology (UNIST)
    School of Life Sciences, Ulsan National Institute of Science and Technology (UNIST))

  • Byung Chul Kim

    (The Genomics Institute (TGI), Ulsan National Institute of Science and Technology (UNIST)
    School of Life Sciences, Ulsan National Institute of Science and Technology (UNIST))

  • Andrea Manica

    (University of Cambridge)

  • Tae-Kwang Oh

    (Infection and Immunity Research Center, Korea Research Institute of Bioscience and Biotechnology)

  • George M. Church

    (New Research Building (NRB), Harvard Medical School)

  • Jong Bhak

    (The Genomics Institute (TGI), Ulsan National Institute of Science and Technology (UNIST)
    School of Life Sciences, Ulsan National Institute of Science and Technology (UNIST)
    Personal Genomics Institute, Genome Research Foundation
    Geromics Inc., Ulsan National Institute of Science and Technology (UNIST))

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.

Suggested Citation

  • Yun Sung Cho & Hyunho Kim & Hak-Min Kim & Sungwoong Jho & JeHoon Jun & Yong Joo Lee & Kyun Shik Chae & Chang Geun Kim & Sangsoo Kim & Anders Eriksson & Jeremy S. Edwards & Semin Lee & Byung Chul Kim &, 2016. "An ethnically relevant consensus Korean reference genome is a step towards personal reference genomes," Nature Communications, Nature, vol. 7(1), pages 1-13, December.
    • Handle: RePEc:nat:natcom:v:7:y:2016:i:1:d:10.1038_ncomms13637
    DOI: 10.1038/ncomms13637
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