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

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, Andrea Manica, Tae-Kwang Oh, George M. Church () and Jong Bhak ()
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Yun Sung Cho: The Genomics Institute (TGI), Ulsan National Institute of Science and Technology (UNIST)
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)
Sungwoong Jho: Personal Genomics Institute, Genome Research Foundation
JeHoon Jun: Personal Genomics Institute, Genome Research Foundation
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)
Byung Chul Kim: The Genomics Institute (TGI), 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)

Nature Communications, 2016, vol. 7, issue 1, 1-13

Abstract: 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.

Date: 2016
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DOI: 10.1038/ncomms13637

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