Korean Genome Project

South Korean genetics project

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Korean Genome Project (Korea1K) is the largest genome sequencing project in Korea, first launched in 2015 as part of the Genome Korea in Ulsan. As of 2021, the project has sequenced over 10,000 human genomes and is the first large-scale data base for constructing a genetic map and diversity analysis of Koreans.[1][2]

## History

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KGP was originated from the national initiative of sequencing the reference Korean and whole population genomes in 2006 by KOBIC, KRIBB and NCSRD, KRISS, Daejeon in Korea. From 2009, KGP was supported by the Genome Research Foundation and TheragenEtex to build the Variome of Koreans as well as the Korean Reference Genome (KOREF). Starting from KOREF, a consensus variome reference, providing information on millions of variants from 40 additional ethnically homogeneous genomes from the Korean Personal Genome Project was completed in 2017.[3] Updating the technology an improved version of KOREF was then constructed using long-read sequencing data produced by Oxford Nanopore PromethION and PacBio technologies has been released showcasing newer assembly technologies and techniques.[4] In 2022 a new chromosome-level haploid assembly of KOREF was published, assembled using Oxford Nanopore Technologies PromethION, Pacific Biosciences HiFi-CCS, and Hi-C technology.[5]

Since 2014, KGP has been supported by Ulsan National Institute of Science and Technology, Clinomics, and Ulsan City, Ulsan, Korea.[citation needed]

## Science & development

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Korea1K) has been used in sequencing technologies such as MGI DNBSEQ-T7 and Illumina HiSeq2000, HiSeq2500, HiSeq4000, HiSeqX10, and NovaSeq6000 sequencing technologies.[6] The variome data has been a reference to study the origin and composition of Korean ethnicity when compared to ancient DNA sequences.[7]

Korea1K released 1,094 Korean whole genome sequences on 27 May 2020, published in Science Advances.[8]

In April 2024, Korea4K was published, making whole genome sequences of 4,157 Koreans publicly accessible alongside an imputation reference panel and 107 phenotypes derived from extensive health check-ups.[9]

## References

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1. ^ JooHyeon Heo (20 November 2020). "Korean Genome Project Data, Useful for for[sic] Clinical and Ethnogenetic Studies". Asia Research News.
2. ^ emily Henderson (10 May 2021). "Korea's first large-scale project reaches milestone of sequencing 10,000 whole genomes". AZO Network.
3. ^ 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. (24 November 2016). "An ethnically relevant consensus Korean reference genome is a step towards personal reference genomes". Nature Communications. 7 (1): 13637. Bibcode:2016NatCo...713637C. doi:10.1038/ncomms13637. ISSN 2041-1723. PMC 5123046. PMID 27882922.
4. ^ Kim, Hui-Su; Jeon, Sungwon; Kim, Changjae; Kim, Yeon Kyung; Cho, Yun Sung; Kim, Jungeun; Blazyte, Asta; Manica, Andrea; Lee, Semin; Bhak, Jong (1 December 2019). "Chromosome-scale assembly comparison of the Korean Reference Genome KOREF from PromethION and PacBio with Hi-C mapping information". GigaScience. 8 (12). doi:10.1093/gigascience/giz125. PMC 6889754. PMID 31794015.
5. ^ Kim, Hui-su; Jeon, Sungwon; Kim, Yeonkyung; Kim, Changjae; Bhak, Jihun; Bhak, Jong (1 January 2022). "KOREF_S1: phased, parental trio-binned Korean reference genome using long reads and Hi-C sequencing methods". GigaScience. 11: giac022. doi:10.1093/gigascience/giac022. ISSN 2047-217X. PMC 8952264. PMID 35333300.
6. ^ Kim, Hak-Min; Jeon, Sungwon; Chung, Oksung; Jun, Je Hoon; Kim, Hui-Su; Blazyte, Asta; Lee, Hwang-Yeol; Yu, Youngseok; Cho, Yun Sung; Bolser, Dan M; Bhak, Jong (1 March 2021). "Comparative analysis of 7 short-read sequencing platforms using the Korean Reference Genome: MGI and Illumina sequencing benchmark for whole-genome sequencing". GigaScience. 10 (giab014). doi:10.1093/gigascience/giab014. ISSN 2047-217X. PMC 7953489. PMID 33710328.
7. ^ Kim, Jungeun; Jeon, Sungwon; Choi, Jae-Pil; Blazyte, Asta; Jeon, Yeonsu; Kim, Jong-Il; Ohashi, Jun; Tokunaga, Katsushi; Sugano, Sumio; Fucharoen, Suthat; Al-Mulla, Fahd (1 May 2020). "The Origin and Composition of Korean Ethnicity Analyzed by Ancient and Present-Day Genome Sequences". Genome Biology and Evolution. 12 (5): 553–565\. doi:10.1093/gbe/evaa062. ISSN 1759-6653. PMC 7250502. PMID 32219389.553-565&rft.date=2020-05-01&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7250502#id-name=PMC&rft.issn=1759-6653&rft_id=info:pmid/32219389&rft_id=info:doi/10.1093/gbe/evaa062&rft.aulast=Kim&rft.aufirst=Jungeun&rft.au=Jeon,+Sungwon&rft.au=Choi,+Jae-Pil&rft.au=Blazyte,+Asta&rft.au=Jeon,+Yeonsu&rft.au=Kim,+Jong-Il&rft.au=Ohashi,+Jun&rft.au=Tokunaga,+Katsushi&rft.au=Sugano,+Sumio&rft.au=Fucharoen,+Suthat&rft.au=Al-Mulla,+Fahd&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7250502&rfr_id=info:sid/en.wikipedia.org:Korean+Genome+Project" class="Z3988">
8. ^ Jeon, Sungwon; Bhak, Youngjune; Choi, Yeonsong; Jeon, Yeonsu; Kim, Seunghoon; Jang, Jaeyoung; Jang, Jinho; Blazyte, Asta; Kim, Changjae; Kim, Yeonkyung; Shim, Jungae (1 May 2020). "Korean Genome Project: 1094 Korean personal genomes with clinical information". Science Advances. 6 (22): eaaz7835. Bibcode:2020SciA....6.7835J. doi:10.1126/sciadv.aaz7835. ISSN 2375-2548. PMC 7385432. PMID 32766443.
9. ^ Jeon, Sungwon; Choi, Hansol; Jeon, Yeonsu; Choi, Whan-Hyuk; Choi, Hyunjoo; An, Kyungwhan; Ryu, Hyojung; Bhak, Jihun; Lee, Hyeonjae; Kwon, Yoonsung; Ha, Sukyeon; Kim, Yeo Jin; Blazyte, Asta; Kim, Changjae; Kim, Yeonkyung (2024). "Korea4K: whole genome sequences of 4,157 Koreans with 107 phenotypes derived from extensive health check-ups". GigaScience. 13. doi:10.1093/gigascience/giae014. ISSN 2047-217X. PMC 11020240. PMID 38626723.

## External links

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* KoreanGenome.org
* Opengenome.net
* www.srd.re.kr
* 1000genomes.kr

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