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

被引:43
|
作者
Cho, Yun Sung [1 ,2 ,3 ]
Kim, Hyunho [4 ]
Kim, Hak-Min [1 ,2 ]
Jho, Sungwoong [3 ]
Jun, JeHoon [3 ,4 ]
Lee, Yong Joo [4 ]
Chae, Kyun Shik [5 ]
Kim, Chang Geun [5 ]
Kim, Sangsoo [6 ]
Eriksson, Anders [7 ]
Edwards, Jeremy S. [8 ]
Lee, Semin [1 ,2 ]
Kim, Byung Chul [1 ,2 ]
Manica, Andrea [7 ]
Oh, Tae-Kwang [9 ]
Church, George M. [10 ]
Bhak, Jong [1 ,2 ,3 ,4 ]
机构
[1] UNIST, TGI, Ulsan 44919, South Korea
[2] UNIST, Sch Life Sci, Dept Biomed Engn, Ulsan 44919, South Korea
[3] Genome Res Fdn, Personal Genom Inst, Cheongju 28160, South Korea
[4] UNIST, Gerom Inc, Ulsan 44919, South Korea
[5] Korea Res Inst Stand & Sci, Natl Standard Reference Ctr, Daejeon 34113, South Korea
[6] Soongsil Univ, Sch Syst Biomed Sci, Seoul 06978, South Korea
[7] Univ Cambridge, Dept Zool, Downing St, Cambridge CB2 3EJ, England
[8] Univ New Mexico, Ctr Comprehens Canc, Chem & Chem Biol, Albuquerque, NM 87131 USA
[9] Korea Res Inst Biosci & Biotechnol, Infect & Immun Res Ctr, Daejeon 34141, South Korea
[10] Harvard Med Sch, Dept Genet, New Res Bldg NRB,77 Ave Louis Pasteur,Room 238, Boston, MA 02115 USA
关键词
STRUCTURAL VARIATION; SEQUENCE; DATABASE; TOOL; POLYMORPHISMS; ARCHITECTURE; NEANDERTHAL; GENERATION; FRAMEWORK; ALIGNMENT;
D O I
10.1038/ncomms13637
中图分类号
O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];
学科分类号
07 ; 0710 ; 09 ;
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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收藏
页数:12
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