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Title 

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

Authors 

Y S ChoH KimH M KimS JhoJ JunY J LeeK S ChaeC G KimS KimA ErikssonJ S EdwardsS LeeB C KimA ManicaTae Kwang OhG M ChurchJ Bhak

Publisher 

Nature Publishing Group

Issue Date 

2016

Citation 

Nature Communications, vol. 7, no. 0, pp. 13637-13637

Keywords 

EMTREE medical terms: consensusethnicityhumanhuman genome

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

Link 

http://dx.doi.org/10.1038/ncomms13637

Appears in Collections

1. Journal Articles > Journal Articles

Registered Date

2019-05-02


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