• KIPS Transactions on Software and Data Engineering
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• v.2 no.2
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• pp.107-112
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• 2013

With the progress of NGS technologies, large genome data have been exploded recently. To analyze such data effectively, the assistance of HPC technique is necessary. In this paper, we organized a genome analysis pipeline to call SNP from NGS data. To organize the pipeline efficiently under HPC environment, we analyzed the CPU utilization pattern of each pipeline steps. We found that sequence alignment is computing centric and suitable for parallelization. We also analyzed the performance of parallel open source alignment tools and found that alignment method utilizing many-core processor can improve the performance of genome analysis pipeline.

• Maxillofacial Plastic and Reconstructive Surgery
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• v.30 no.2
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• pp.205-212
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• 2008

Genetic variation in the human genome occurs on various levels; from the single nucleotide polymorphism to large, microscopically visible chromosome anomalies. It can be present in many forms, including variable number of tandem repeat (VNTRs; e.g., mini- and microsatellites), presence/absence of transposable elements (e.g., Alu elements), single nucleotide polymorphisms, and structural alterations (e.g., copy number variation, segmental duplication, inversion, translocation). Until recently SNPs were thought to be the main source of genetic and phenotypic human variation. However, the use of methods such as array comparative genomic hybridization (array CGH) and fluorescence in situ hybridization (FISH) have revealed the presence of copy number variations(CNVs) ranging from kilobases (kb) to megabases (Mb) in the human genome. There is great interest in the possibility that CNVs playa role in the etiology of common disease such as HIV-1/AIDS, diabetes, autoimmune disease, heart disease and cancer. The discovery of widespread copy number variation in human provides insights into genetic variability among populations and provides a foundation for studies of the contribution of CNVs to evolution and disease.

• Proceedings of the Korean Statistical Society Conference
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• 2002.11a
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• pp.203-207
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• 2002

Post-genome 시대를 맞이하여 인류는 전 유전체에서의 염기서열에 대한 정보를 가질 수 있게 되었다. 이러한 정보를 이용하여서 인간에게 나타나는 다양성을 설명하기 위해서 SNP(Single Nucleotide Polymorphism)의 연구가 활발히 되고 있다. 하지만 인간 체세포의 염색체는 2쌍으로 되어있기 때문에 이러한 정보가 어떠한 쌍의 조합(haplotype)으로 나타나는가를 고려하여야한다. 현재 실험적 방법으로 이를 고려하기에는 여러 가지 제약이 따르므로 통계적인 방법으로 이를 모형화하려는 노력(in silico haplotyping)이 시도되고 있다. 이 논문에서는 통계적으로 haplotype을 정하는 대표적인 알고리즘인 Clark's algorithm, E-M algorithm 등에 대한 고찰을 통하여 유전체통계학에 대한 소개를 하고자 한다.

• Proceedings of the Korea Information Processing Society Conference
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• 2006.11a
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• pp.721-724
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• 2006

최근 인간 유전체 연구에 대한 관심이 증대되어 유전자원 정보에 대한 효율적 활용을 위한 정보 수집 및 관리 활동이 지속적으로 이루어지고 있다. 그러나 현재까지 연구된 보건의료분야 표준 코드체계들은 유전자원 정보 식별을 위한 적합한 표현방법을 고려하지 않아 유전자원 정보관리에 적용하기 어려운 문제점을 갖고 있으며, 현재 사용되는 식별체계 또한 기관에 따라 자체적으로 운영되고 있는 것이 현실이다. 따라서 이 논문에서는 보건의료 정보 관리에 적용되는 국내 외 표준 코드체계를 분석하고 유전자원 표준 코드체계 설계를 위한 정보 요구사항 및 기본방향을 제시하였다.

• Journal of Science and Technology Studies
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• v.5 no.1 s.9
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• pp.55-92
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• 2005

The factors contributing to the formation of an important scientific concept in South Korea and its circulation in the society are the scientific knowledge that had been already formed, matured, and established in the U.S.A, Europe and Japan and has been introduced into Korea, and the institutions that have been formed during the recent modernization in South Korea. The concept of 'genetic information' cannot be an exception in this context. The concept of genetic information is the one that has been extended and intensified by the genomics and bioinformatics formed and matured through the Human Genome Projects from the former concept of inheritance or heredity within the framework of classical and molecular genetics. The purpose of this study was to find out 'how the production structure of genetic information in South Korea has been formed', under the perspective of the conceptual, epistemic, and institutional holisticity or integratedness in the concept and knowledge production structure idealized in Western advanced nations. The discourse of genetic engineering popular in the mid 1980's in South Korea has catalyzed the development of molecular biology. However, the institutional balance that had been established for the biochemistry departments in Natural Science College and Medical College was not formed between the genetic engineering and genetics departments in South Korea. Therefore, they were unable to achieve the more integrative and macro-level disciplinary impact on life sciences, largely due to institutional lack of the capable (human) genetics departments in some leading Korean colleges of Medicine. In genomics, the cutting-edge reprogramming and restructuring of the traditional genetics in the West, South Korea has not invested, even meagerly, in the infrastructure, fund, and research and development (R & D) for the Basic or First Phase of the research trajectory in the Human Genome Project. Without a minimal Basic Phase, the genomics research and development in Korea has been running more or less for the Advanced or Second Phase. Bioinformatics has started developing in Korea under a narrow perspective which regards it as a mere sub-discipline of information technology (IT). Having developed itself in parallel with genomics, bioinformatics contains its own unique logics and contents that can be both directly and indirectly connected to the information science and technology. As a result, bioinformatics reveals a defect in respect of being synergistically integrated into genetics and life sciences in Korea. Owing to the structural problem in the production, genetic information appears to be produced in a fragmented pattern in the Korean society since its fundamental base is weak and thin. A good example of the conceptual and institutional fragmentedness is that 'the genetics of individual identification' is not a normal integrated part of the Korean genetics, but a scientific practice exercised in the departments of legal medicine in a few Medical Colleges. And the environment contributing to the production structure of genetic information in South Korea today comprises 'sangmyung gonghak'(or life engineering) discourse and non-governmental organization movement.

• Journal of Korea Technology Innovation Society
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• v.9 no.1
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• pp.84-102
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• 2006

This paper compares four models to value a biotechnology R&D project; option tree model, dynamic discounted cash flow(DCF) model, and option thinking DCF model with general DCF model. Real Options, especially 6-folded option tree model yields boner estimate of value than values using other methods. According to sensitivity analysis, sales of final products, number of investigational new drug developments(INDs) and success rates of each stage are key factors for the value of biotechnology R&D investment.

• Bulletin of Food Technology
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• v.18 no.1
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• pp.3-15
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• 2005

최근 들어 게놈기능연구는 주요국가의 새로운 국가적 연구표적으로 지정되면서 유전자기반 생물산업의 핵심으로 부각되고 있다. 이러한 발전은인간(2001년 2월 인간 게놈의 초안 발표)을 비롯한 생물체의 게놈구조가 규명되어 이 유전자구조정보를 web상에서 쉽게 알아낼 수 있는데서 비롯된다. 포스트게놈시대의 게놈기능연구를 총괄적으로 '기능유전체학 (Functional Genomics)'이라고하며 여기에는 핵산(DNA나 RNA)을 표적으로 게놈기능을 연구하는 genomics(유전체학, RNA발현을 대상으로 하는 transcriptomics(전사체학) 포함), 총체적인 단백체를 대상으로 유전자기능을 연구하는 proteomics(단백질체학) 및 대사물질을 대상으로 하는 metabolomics(대사체학), 이들 분야를 공통적으로 지원하는 bioinformatics(생물정보학)로 구분된다. 본 고에서는 프로테오믹스 분야를 중심으로 소개하고자 한다.

• Journal of Science and Technology Studies
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• v.15 no.1
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• pp.145-180
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• 2015

Human Genome Project was a big science done by United States, U.K., France, China, Germany and Japan. But in Korea HGP was not constructed because of lack of governmental funding and failure to attract relevant actors' attention in spite of small voices from early genome researchers and some family members of patients with incurable diseases. This article does not argue that HGP in Korea was an undone science, a concept claimed by Scott Frickel, et al. Instead, it shows the historical fact that HGP was not constructed in Korea in 1990s and analyzes how genomic researches could become possible in Korea in the post-genomic age using the framework of triple-helix. In Korea, researchers have constructed hybrid networks and organizations that intermingles laboratories of university, industry, and government to conduct genomic researches which requires a lot of financial funding. This structure is different from the entrepreneurial university seen in developed countries such as the United States. Using two examples, this article shows that founding a start-up company by university researchers was not an option as in the United States, but a necessity in order to obtain enough funding to conduct genomic researches in Korea. Otherwise, researchers in Korean universities had to form hybrid networks with government to obtain small amount of funds to conduct researches. I argue that this phenomenon shows multifaceted characteristics of institutional structures regarding genomic researches in Korea.

• Journal of Scientific & Technological Knowledge Infrastructure
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• s.3
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• pp.20-25
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• 2000

생물정보학은 넓은 의미로 컴퓨터를 이용하여 모든 생화학정보를 광범위하게 연구.활용하는 학문이라고 할 수 있다. 하지만 최근의 인간유전체사업(Human Genome Project)의 인기에 의해 생물정보학이 DNA나 단백질의 서열 정보 분석의 분야로만 편중되어 의미되는 경향이 많은 것이 사실이다.

• Journal of Scientific & Technological Knowledge Infrastructure
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• s.3
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• pp.68-75
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• 2000

생물정보학은 넓은 의미로 컴퓨터를 이용해 모든 생화학정보를 광범위하게 연구.활용하는 학문이라고 할 수 있다. 하지만 최근의 인간유전체사업(Human Genome Project)의 인기에 의해 생물정보학이 DNA나 단백질 서열정보 분석의 분야로만 편중되어 의미되는 경향이 많은 것이 사실이다.