An ethnically relevant consensus Korean reference genome is a step towards personal reference genomes.
Cho, Yun Sung
Lee, Yong Joo
Chae, Kyun Shik
Kim, Chang Geun
Edwards, Jeremy S
Kim, Byung Chul
Church, George M
Springer Science and Business Media LLC
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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
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.
Humans, Chromosome Mapping, Sequence Analysis, DNA, Consensus, Genome, Human, Asian Continental Ancestry Group, Republic of Korea, High-Throughput Nucleotide Sequencing
External DOI: https://doi.org/10.1038/ncomms13637
This record's URL: https://www.repository.cam.ac.uk/handle/1810/266466
Attribution 4.0 International, Attribution 4.0 International, Attribution 4.0 International, Attribution 4.0 International