An ethnically relevant consensus Korean reference genome is a step towards personal reference genomes.
View / Open Files
Authors
Cho, Yun Sung
Kim, Hyunho
Kim, Hak-Min
Jho, Sungwoong
Jun, JeHoon
Lee, Yong Joo
Chae, Kyun Shik
Kim, Chang Geun
Kim, Sangsoo
Edwards, Jeremy S
Lee, Semin
Kim, Byung Chul
Oh, Tae-Kwang
Church, George M
Bhak, Jong
Publication Date
2016-11-24Journal Title
Nat Commun
ISSN
2041-1723
Publisher
Springer Science and Business Media LLC
Volume
7
Pages
13637
Language
English
Type
Article
This Version
AM
Physical Medium
Electronic
Metadata
Show full item recordCitation
Cho, Y. S., Kim, H., Kim, H., Jho, S., Jun, J., Lee, Y. J., Chae, K. S., et al. (2016). An ethnically relevant consensus Korean reference genome is a step towards personal reference genomes.. Nat Commun, 7 13637. https://doi.org/10.1038/ncomms13637
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.
Keywords
Humans, Chromosome Mapping, Sequence Analysis, DNA, Consensus, Genome, Human, Asian Continental Ancestry Group, Republic of Korea, High-Throughput Nucleotide Sequencing
Identifiers
External DOI: https://doi.org/10.1038/ncomms13637
This record's URL: https://www.repository.cam.ac.uk/handle/1810/266466
Rights
Attribution 4.0 International, Attribution 4.0 International, Attribution 4.0 International, Attribution 4.0 International
Statistics
Total file downloads (since January 2020). For more information on metrics see the
IRUS guide.