• Proceedings of the PSK Conference
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• 2003.10a
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• pp.60-61
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• 2003

Human Genome Project has recently been completed and the information on nucleotide sequences of our whole genome is now available at the public or commercial data banks. Next goals are to identify the functions of each gene and to elucidate the intracellular signal transduction pathways regulating gene expression. We have established a PCR-based bioassay to search for biologically active compounds that can modulate the expression of genes encoding important proteins. (omitted)

• Journal of Science and Technology Studies
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• v.19 no.2
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• pp.117-167
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• 2019

Since a working draft sequence mapping of the human genome was published in 2001, the variety of the national genome projects has been initiated in South Korea. One of the rationales for such projects is that "the Korean genome database" will be used for "the personalized medicine for Asians." By focusing on the development of human genomics in this country, this paper examines how the discourse has emerged as a strategy for commercializing the national genome. The paper argues that Korean genomicists developed this strategy under the influences of the global "genome sovereignty" policy and local "Asian regionalist" science policy. It will contribute to the literature of the "Asian" race and genomics by shedding new light on the historical formation of the Pan-Asian Single Nucleotide Polymorphism(PASNP) consortium beyond the Singaporean experience.

• KIPS Transactions on Software and Data Engineering
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• v.2 no.2
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• pp.97-106
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• 2013

Since human genome project finished, the cost for human genome analysis has decreased very rapidly. This results in the sharp increase of human genome data to be analyzed. As the need for fast analysis of very large bio data such as human genome increases, non IT researchers such as biologists should be able to execute fast and effectively many kinds of bio applications, which have a variety of characteristics, under HPC environment. To accomplish this purpose, a biologist need to define a sequence of bio applications as workflow easily because generally bio applications should be combined and executed in some order. This bio workflow should be executed in the form of distributed and parallel computing by allocating computing resources efficiently under HPC cluster system. Through this kind of job, we can expect better performance and fast response time of very large bio data analysis. This paper proposes a workflow-based data analysis system specialized for bio applications. Using this system, non-IT scientists and researchers can analyze very large bio data easily under HPC environment.

• Journal of Life Science
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• v.13 no.2
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• pp.175-183
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• 2003

The chimpanzee and gorilla are classified into hominidae, catarrhini, primates. These species are originated from Africa, so called African great apes. Recently, primatologists have classified that there are 2 species 5 subspecies of the chimpanzee and gorilla, respectively. Since the human genome project has been finished, the chimpanzee genome project has been launched to understand human evolution and genetic diseases. The sequences of chimpanzee chromosome 22 homologous to human chromosome 21 were completed, and then the Y chromosome of chimpanzee is being analyzed. Comparative analysis of human, chimpanzee and gorilla could provide the key for understanding of various human diseases and human origin. By detecting human specific-functional genes or mobile genetic elements (HERV, LINE, SINE) through primate research, we could understand what is human being\ulcorner gradually, For these comparative researches, we summarized fundamental knowledge of the feature, phylogeny and evolution of African great apes including humans.

• The Science & Technology
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• v.33 no.6 s.373
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• pp.43-69
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• 2000

세계인의 이목이 사람의 유전자정보를 밝히는 인간지놈계획(Human Genome Project)에 집중되고 있다. 인간지놈지도 완성이 몰고올 파장이 엄청날 것으로 보기 때문이다. 인간지놈프로젝트의 배경부터 그 완성의 의미 그리고 산업에 미치는 영향과 벤처기업 및 윤리적인 문제를 총 점검해 본다.

• 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.

• Genomics & Informatics
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• v.17 no.3
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• pp.29.1-29.8
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• 2019

The Wellcome Trust Case Control Consortium (WTCCC) study was a large genome-wide association study that aimed to identify common variants associated with seven diseases. That study combined two control datasets (58C and UK Blood Services) as shared controls. Prior to using the combined controls, the WTCCC performed analyses to show that the genomic content of the control datasets was not significantly different. Recently, the analysis of human leukocyte antigen (HLA) genes has become prevalent due to the development of HLA imputation technology. In this project, we extended the between-control homogeneity analysis of the WTCCC to HLA. We imputed HLA information in the WTCCC control dataset and showed that the HLA content was not significantly different between the two control datasets, suggesting that the combined controls can be used as controls for HLA fine-mapping analysis based on HLA imputation.

• Genomics & Informatics
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• v.11 no.2
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• pp.60-67
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• 2013

A decade-long project, led by several international research groups, called the Encyclopedia of DNA Elements (ENCODE), recently released an unprecedented amount of data. The ambitious project covers transcriptome, cistrome, epigenome, and interactome data from more than 1,600 sets of experiments in human. To make use of this valuable resource, it is important to understand the information it represents and the techniques that were used to generate these data. In this review, we introduce the data that ENCODE generated, summarize the observations from the data analysis, and revisit a computational approach that ENCODE used to predict gene expression, with a focus on the human transcriptome and its association with chromatin modifications.

• Proceedings of the Korean Society for Bioinformatics Conference
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• 2001.10a
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• pp.61-86
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• 2001

All cancers are caused by abnormalities in DNA sequence. Throughout life, the DNA in human cells is exposed to mutagens and suffers mistakes in replication, resulting in progressive, subtle changes in the DNA sequence in each cell. Since the development of conventional and molecular cytogenetic methods to the analysis of chromosomal aberrations in cancers, more than 1,800 recurring chromosomal breakpoints have been identified. These breakpoints and regions of nonrandom copy number changes typically point to the location of genes involved in cancer initiation and progression. With the introduction of molecular cytogenetic methodologies based on fluorescence in situ hybridization (FISH), namely, comparative genomic hybridization (CGH) and multicolor FISH (m-FISH) in carcinomas become susceptible to analysis. Conventional CGH has been widely applied for the detection of genomic imbalances in tumor cells, and used normal metaphase chromosomes as targets for the mapping of copy number changes. However, this limits the mapping of such imbalances to the resolution limit of metaphase chromosomes (usually 10 to 20 Mb). Efforts to increase this resolution have led to the "new"concept of genomic DNA chip (1 to 2 Mb), whereby the chromosomal target is replaced with cloned DNA immobilized on such as glass slides. The resulting resolution then depends on the size of the immobilized DNA fragments. We have completed the first draft of its Korean Genome Project. The project proceeded by end sequencing inserts from a library of 96,768 bacterial artificial chromosomes (BACs) containing genomic DNA fragments from Korean ethnicity. The sequenced BAC ends were then compared to the Human Genome Project′s publicly available sequence database and aligned according to known cancer gene sequences. These BAC clones were biotinylated by nick translation, hybridized to cytogenetic preparations of metaphase cells, and detected with fluorescein-conjugated avidin. Only locations of unique or low-copy Portions of the clone are identified, because high-copy interspersed repetitive sequences in the probe were suppressed by the addition of unlabelled Cotl DNA. Banding patterns were produced using DAPI. By this means, every BAC fragment has been matched to its appropriate chromosomal location. We have placed 86 (156 BAC clones) cytogenetically defined landmarks to help with the characterization of known cancer genes. Microarray techniques would be applied in CGH by replacement of metaphase chromosome to arrayed BAC confirming in oncogene and tumor suppressor gene: and an array BAC clones from the collection is used to perform a genome-wide scan for segmental aneuploidy by array-CGH. Therefore, the genomic DNA chip (arrayed BAC) will be undoubtedly provide accurate diagnosis of deletions, duplication, insertions and rearrangements of genomic material related to various human phenotypes, including neoplasias. And our tumor markers based on genetic abnormalities of cancer would be identified and contribute to the screening of the stage of cancers and/or hereditary diseases