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

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作者
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
Jong Bhak
机构
[1] The Genomics Institute (TGI),Department of Biomedical Engineering
[2] Ulsan National Institute of Science and Technology (UNIST),Department of Zoology
[3] School of Life Sciences,Department of Genetics
[4] Ulsan National Institute of Science and Technology (UNIST),undefined
[5] Personal Genomics Institute,undefined
[6] Genome Research Foundation,undefined
[7] Geromics Inc.,undefined
[8] Ulsan National Institute of Science and Technology (UNIST),undefined
[9] National Standard Reference Center,undefined
[10] Korea Research Institute of Standards and Science,undefined
[11] School of Systems Biomedical Science,undefined
[12] Soongsil University,undefined
[13] University of Cambridge,undefined
[14] Chemistry and Chemical Biology,undefined
[15] UNM Comprehensive Cancer Center,undefined
[16] University of New Mexico,undefined
[17] Infection and Immunity Research Center,undefined
[18] Korea Research Institute of Bioscience and Biotechnology,undefined
[19] New Research Building (NRB),undefined
[20] Harvard Medical School,undefined
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摘要
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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