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

Accepted version
Peer-reviewed

Type

Article

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Authors

Cho, Yun Sung 
Kim, Hyunho 
Kim, Hak-Min 
Jho, Sungwoong 
Jun, JeHoon 

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.

Description

Keywords

Asian People, Chromosome Mapping, Consensus, Genome, Human, High-Throughput Nucleotide Sequencing, Humans, Republic of Korea, Sequence Analysis, DNA

Journal Title

Nat Commun

Conference Name

Journal ISSN

2041-1723
2041-1723

Volume Title

7

Publisher

Springer Science and Business Media LLC