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

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...

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Bibliographic Details
Published in:Nature communications 2016-11, Vol.7 (1), p.13637-13637, Article 13637
Main Authors: Cho, Yun Sung, Kim, Hyunho, Kim, Hak-Min, Jho, Sungwoong, Jun, JeHoon, Lee, Yong Joo, Chae, Kyun Shik, Kim, Chang Geun, Kim, Sangsoo, Eriksson, Anders, Edwards, Jeremy S., Lee, Semin, Kim, Byung Chul, Manica, Andrea, Oh, Tae-Kwang, Church, George M., Bhak, Jong
Format: Article
Language:English
Subjects:
631/114/2785
631/208/212
631/208/514
Asian Continental Ancestry Group - genetics
Chromosome Mapping
Consensus
Genome, Human - genetics
Genomes
Genomics
Haplotypes
High-Throughput Nucleotide Sequencing
Humanities and Social Sciences
Humans
multidisciplinary
Republic of Korea
Science
Science (multidisciplinary)
Sequence Analysis, DNA
White people
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Summary: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. The utility of a universal reference sequence for human genome comparisons is dependent on the ethnic origins of the individuals being sequenced. Here the authors report a Korean reference genome and consensus variome, and show that an ethnically-relevant reference can improve variant detection.
ISSN:2041-1723
2041-1723
DOI:10.1038/ncomms13637