title: An ethnically relevant consensus Korean reference genome is a step towards personal reference genomes.
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.
authors.affiliation: The Genomics Institute (TGI), Ulsan National Institute of Science and Technology (UNIST), Ulsan 44919, Korea.|Department of Biomedical Engineering, School of Life Sciences, Ulsan National Institute of Science and Technology (UNIST), Ulsan 44919, Korea.|Personal Genomics Institute, Genome Research Foundation, Cheongju 28160, Korea.
authors.forename: Yun Sung
authors.initials: YS
authors.lastname: Cho
authors.affiliation: Geromics Inc., Ulsan National Institute of Science and Technology (UNIST), Ulsan 44919, Korea.
authors.forename: Hyunho
authors.initials: H
authors.lastname: Kim
authors.affiliation: The Genomics Institute (TGI), Ulsan National Institute of Science and Technology (UNIST), Ulsan 44919, Korea.|Department of Biomedical Engineering, School of Life Sciences, Ulsan National Institute of Science and Technology (UNIST), Ulsan 44919, Korea.
authors.forename: Hak-Min
authors.initials: HM
authors.lastname: Kim
authors.affiliation: Personal Genomics Institute, Genome Research Foundation, Cheongju 28160, Korea.
authors.forename: Sungwoong
authors.initials: S
authors.lastname: Jho
authors.affiliation: Personal Genomics Institute, Genome Research Foundation, Cheongju 28160, Korea.|Geromics Inc., Ulsan National Institute of Science and Technology (UNIST), Ulsan 44919, Korea.
authors.forename: JeHoon
authors.initials: J
authors.lastname: Jun
authors.affiliation: Geromics Inc., Ulsan National Institute of Science and Technology (UNIST), Ulsan 44919, Korea.
authors.forename: Yong Joo
authors.initials: YJ
authors.lastname: Lee
authors.affiliation: National Standard Reference Center, Korea Research Institute of Standards and Science, Daejeon 34113, Korea.
authors.forename: Kyun Shik
authors.initials: KS
authors.lastname: Chae
authors.affiliation: National Standard Reference Center, Korea Research Institute of Standards and Science, Daejeon 34113, Korea.
authors.forename: Chang Geun
authors.initials: CG
authors.lastname: Kim
authors.affiliation: School of Systems Biomedical Science, Soongsil University, Seoul 06978, Korea.
authors.forename: Sangsoo
authors.initials: S
authors.lastname: Kim
authors.affiliation: Department of Zoology, University of Cambridge, Downing Street, Cambridge CB2 3EJ, UK.
authors.forename: Anders
authors.identifier: 0000-0003-3436-3726
authors.initials: A
authors.lastname: Eriksson
authors.affiliation: Chemistry and Chemical Biology, UNM Comprehensive Cancer Center, University of New Mexico, Albuquerque, New Mexico 87131, USA.
authors.forename: Jeremy S
authors.initials: JS
authors.lastname: Edwards
authors.affiliation: The Genomics Institute (TGI), Ulsan National Institute of Science and Technology (UNIST), Ulsan 44919, Korea.|Department of Biomedical Engineering, School of Life Sciences, Ulsan National Institute of Science and Technology (UNIST), Ulsan 44919, Korea.
authors.forename: Semin
authors.initials: S
authors.lastname: Lee
authors.affiliation: The Genomics Institute (TGI), Ulsan National Institute of Science and Technology (UNIST), Ulsan 44919, Korea.|Department of Biomedical Engineering, School of Life Sciences, Ulsan National Institute of Science and Technology (UNIST), Ulsan 44919, Korea.
authors.forename: Byung Chul
authors.initials: BC
authors.lastname: Kim
authors.affiliation: Department of Zoology, University of Cambridge, Downing Street, Cambridge CB2 3EJ, UK.
authors.forename: Andrea
authors.identifier: 0000-0003-1895-450X
authors.initials: A
authors.lastname: Manica
authors.affiliation: Infection and Immunity Research Center, Korea Research Institute of Bioscience and Biotechnology, Daejeon 34141, Korea.
authors.forename: Tae-Kwang
authors.initials: TK
authors.lastname: Oh
authors.affiliation: Department of Genetics, New Research Building (NRB), Harvard Medical School, 77 Avenue Louis Pasteur, Room 238, Boston, Massachusetts 02115, USA.
authors.forename: George M
authors.initials: GM
authors.lastname: Church
authors.affiliation: The Genomics Institute (TGI), Ulsan National Institute of Science and Technology (UNIST), Ulsan 44919, Korea.|Department of Biomedical Engineering, School of Life Sciences, Ulsan National Institute of Science and Technology (UNIST), Ulsan 44919, Korea.|Personal Genomics Institute, Genome Research Foundation, Cheongju 28160, Korea.|Geromics Inc., Ulsan National Institute of Science and Technology (UNIST), Ulsan 44919, Korea.
authors.forename: Jong
authors.initials: J
authors.lastname: Bhak
mesh_terms: D044466:Asian People / Q000235:genetics*; D002874:Chromosome Mapping; D032921:Consensus; D015894:Genome, Human / Q000235:genetics*; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D056910:Republic of Korea; D017422:Sequence Analysis, DNA