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

Citation data:

Nature communications, ISSN: 2041-1723, Vol: 7, Page: 13637

Publication Year:
2016
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Repository URL:
http://scholarworks.unist.ac.kr/handle/201301/21001
PMID:
27882922
DOI:
10.1038/ncomms13637
PMCID:
PMC5123046
Author(s):
Cho, Yun Sung; Kim, Hyunho; Kim, Hak-Min; Jho, Sungwoong; Jun, Jehoon; Lee, Yong Ju; Chae, Kyun Shik; Kim, Chang Geun; Kim, Sangsoo; Eriksson, Anders; Edwards, Jerermy S.; Lee, Semin; Kim, Byung C.hul; Manica, Andrea; Oh, Tae-Kwang; Church, George M.; Bhak, Jong Show More Hide
Publisher(s):
Springer Nature; NATURE PUBLISHING GROUP
Tags:
Chemistry; Biochemistry, Genetics and Molecular Biology; Physics and Astronomy
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article description
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.