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

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Title
An ethnically relevant consensus Korean reference genome is a step towards personal reference genomes
Author(s)
Y S Cho; H Kim; H M Kim; S Jho; J Jun; Y J Lee; K S Chae; C G Kim; S Kim; A Eriksson; J S Edwards; S Lee; B C Kim; A Manica; Tae Kwang Oh; G M Church; J Bhak
Bibliographic Citation
Nature Communications, vol. 7, pp. 13637-13637
Publication Year
2016
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
ISSN
2041-1723
Publisher
Springer-Nature Pub Group
DOI
http://dx.doi.org/10.1038/ncomms13637
Type
Article
Appears in Collections:
Division of Biomedical Research > Metabolic Regulation Research Center > 1. Journal Articles
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