Genome Institute

Pioneer in Biotechnology, Conducting Genome Research and Development – Genome Institute

Macrogen Genome Institute has been focusing on the research and development of genome analysis, the core technology of Macrogen. In the earlier stage of its establishment, Macrogen succeeded in the microbe genome analysis (zymomonas mobilis) for the first time in Korea and published the results in Nature Biotechnology in 2005. The research is significant because it completed the molecular biological map for the use of zymomonas mobilis as a strain for alcohol production as well as served as the momentum to establish the technology for the gene analysis of a living organism for the first time in Korea.

Based on the gene analysis technology established in the early stage of its foundation, Macrogen Genome Institute succeeded in the complete sequence analysis of the human genome for the fifth time in the world using the Korean genome. The results were published in Nature in 2009, and caused a great sensation in Korea and other countries. The large-scale sequence analysis technology and bioinformatics technology established by such research and development had improved, leading to successful results in copy number variant analysis with Asian subjects (Nature Genetics) in 2010 and genome analysis and transcriptome analysis with large numbers of Koreans (Nature Genetics) in 2011.

In 2013, Macrogen carried forward a Northeast Asian (including Mongolian) genome project with the Genomic Medicine Institute at Seoul National University and completed the genome analysis of more than 1,000 people, and in 2015, Macrogen extended the 10,000 Asian genome analysis project to the Asian genome analysis project that targets analyzing the genomes of more than 100,000 Asians. Macrogen is planning to participate in the GenomeAsia 100K project ( from 2016 and lead the project as one of the founding partners.

In 2016, Macrogen, along with the Genomic Medicine Institute of Seoul National University, published the Korean genome sequence, which is recognized as the most perfect human genome sequence, in the journal Nature. The Korean sequence named AK1 was assembled using the latest genome analysis technology and successfully filled many gaps that existed in the current human standard sequence. Many genetic variations specific to Koreans were discovered, confirming the competence and leadership of Macrogen Genome Institute.

Next-generation sequencing (NGS), bacterial artificial chromosome (BAC) cloning technology, and gene analysis bioinformatics technology, all established by these large-scale gene projects, are widely used in the main business areas of Macrogen such as its NGS, CES and biochip analysis service, and are regarded as the core competitive power of Macrogen.

In the future, Macrogen Genome Institute will contribute to the realization of precision medicine targeting Asians and Koreans, using the gene variation DB obtained from the large-scale genome analysis. To do this, the Institute actively participates in developing the infrastructure for clinical research conducted in the Personalized Medicine Research Institute and the Precision Medicine Center, which are affiliated institutions of Macrogen, to contribute to the companion diagnostics system, and accelerate stem cell research for personalized regenerative medicine that is the future of precision medicine.

Results and Current Status of Research

Zymomonas Mobilis Biorefinery Project

Zymomonas mobilis is bacteria that produces alcohol. Research has been conducted on its use in alternative energy with the bacteria since it has the highest alcohol production efficiency and productivity among bacteria known to produce alcohol. Macrogen analyzed the complete genome sequence of Zymomonas, which had started as preparation research for a genome map, for the first time in Korea in 2000 and registered the results with the NCBI and GenBank in the United States. Afterwards, Macrogen succeeded in discovering a useful ethanol production gene and developing super alcohol bacteria Zymomonas with microarray and genome analysis studies and published the results in Nature Biotechnology in 2005.

Moreover, Korean and overseas patents were obtained by continuous follow-up research and the possibility of ethanol commercialization and mass production using the strain we developed with cassava, as a fermented starch raw material was confirmed by joint research projects. Based on the research results, we extended R&D to the white biotechnology field for the fermentation production of organic acids (such as succinic acid, malic acid and lactic acid) as well as fuel-ethanol and are currently executing the following projects:

- Development of strains to improve amyloid ethanol and organic acid production yield and development of a production process
- Development of cellulosic ethanol derived from biomass and development of strains to improve the productivity of organic acid
- Development of useful biological material production strains and processes using metabolism circuit control technology

Whole Genome of Zymomonas mobilis ZM4 (Nature Biotechnology, Jan. 2005)

  • - Decoding the microbe genome (zymomonas) for the eighth time in the world (August 2000)
  • - Publication in Nature Biotechnology (January 2005)

Korean Genome Project

Nature Human Genome Project 10th Anniversary Special Issue, February 2011

  • 2001. 07Korean (AK1) BAC clone map completed
  • 2007. 10AK1 genome sequence analysis started
  • 2008. 09AK1 genome sequence analysis completed (30X)
  • 2008. 11Keynote speech about AK1 genome analysis results at the third Korea Health Forum Symposium
  • 2009. 01Guest speech at the ‘Miami Winter Symposium’ hosted by Nature Publishing Group
  • 2009. 07Published in Nature
    Analysis results of whole-genome sequence of a Korean individual published in Nature
    Completion of the most accurate genome map up to that time

Korean Genome BAC clone Project

Macrogen, the leader in gene research, has completed a draft of the Korean genome map named ‘Korean BAC Clone Map’ that is formed by cutting DNAs of Koreans into about 100,000 pieces, checking 500 nucleotide sequences at the end of each piece and comparing them to an HGP genome map using bioinformatics technology.

With the completion of the draft genome map, most BAC clones composed of an average of 110,000 bases were obtained, and a foundation to study the function of each gene for diagnosis and treatment of diseases was established by using a disease-related gene database and correctly select the target disease gene. Using the Korean genome map and the 4,000 secured BAC clones, Macrogen developed the ‘MacArray Karyo 4000’ that can diagnose quantitative and structural anomalies (microdeletion, subtelomeres and telomeres) at 1 Mb resolution and completed development of the Fluorescence In Situ Hybridization (FISH) probe that can diagnose major carcinogenic genes.

Asian Genome Project

- Asian Genome Center Established (June 2009, in Genomic Medicine Institute at Seoul National University)
- Individual genome analysis project with 1,000 Asians, including Koreans
- Early acquisition of genetic information contents and its transformation into resources such as SNP, CNV and the discovery of disease-related genes
- Use as a marker for personalized diagnosis and development of personalized drugs based on the sequence and structural variations of an individual’s genomes

Genome Asia 100K Initiative Project

The purpose of the Genome Asia 100K Project is to analyze the genomes of about 100,000 Asians by conducting medical research to realize precision medicine specialized for Asians. This project will provide an actual foundation to realize precision medicine specialized for Asians, who account for more than 40% of the world’s population but they are currently under-represented in the human standard sequence. Macrogen will participate in the Genome Asia 100K project from the planning stage as one of the founding members to play a leading role using our gene analysis technology. Macrogen wishes to contribute to the future diagnosis, prevention and treatment of diseases based on the genome analysis for Asians with this project.

AK1 Korean Standard Genome Project

The Macrogen Genome Institute, together with the Genomic Medicine Institute at Seoul National University, received high praise for succeeding in deriving the most complete and continuous genome assembly among human genome sequences generated up to date by assembling the Korean genome sequence using single-molecule real-time sequencing, haplotype phasing, NGS mapping and bacterial artificial chromosome (BAC) clone analysis.

Stem Cell Research for Regenerative Medicine

Stem cells will become a crucial area in regenerative medicine in the future. Macrogen has conducted research on a ‘stem cell differentiation network data mining system’ as a project of the Applied Cell Research Corps. We are searching for crucial genes related to cell differentiation using our accumulated gene analysis technology. Based on this, Macrogen is conducting basic research as follows:

  • - Research on the criteria and methods of stem cell safety and efficiency tests
  • - Research on monitoring cell lines to explore differentiation materials
  • - Research on the development of cell therapy products