• Title/Summary/Keyword: Human Genome Project

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Dynamic Development of Techno-social Dysfunctions Accompanied with the Spread of 'New technology' and Countermeasures against Them (신기술' 확산에 따른 기술사회적 역기능의 전개과정 및 대응 전략)

  • Kim Jong-Kil
    • Journal of Science and Technology Studies
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    • v.1 no.1 s.1
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    • pp.235-259
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    • 2001
  • This study investigates a variety of dysfunctions and dynamics accompanied with the spread of advanced technology, and predicts the developmental directions of future uncertain society. There are, further, proper countermeasures against dysfunctions discussed. First, different theoretical paradigms concerned with the relationship between seience/technology and society would be comparatively analyzed, and their techno-social implications would be examined. Next, the latest trend of bio-technology and information technology, especially the trend of combination of bio- and information technology, appeared in the progress of Human Genome Project, would be considered. Thirdly, techno-social dysfunctions and far-reaching effects following the development of high-technologies would be analyzed, and realistic alternative plans would be suggested. Through this study, we come to a conclusion that, in order to reduce techno-social dysfunctions to a minimum and enhance their eufunctions, not only 'human' control over technological development should be guaranteed, but also action plan for bridging social gaps should be prepared. In addition, fluent communication and mutual understanding of all concerned, particularly between researcher community, government, and civic sector are required.

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CNVR Detection Reflecting the Properties of the Reference Sequence in HLA Region (레퍼런스 시퀀스의 특성을 고려한 HLA 영역에서의 CNVR 탐지)

  • Lee, Jong-Keun;Hong, Dong-Wan;Yoon, Jee-Hee
    • Journal of KIISE:Computing Practices and Letters
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    • v.16 no.6
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    • pp.712-716
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    • 2010
  • In this paper, we propose a novel shape-based approach to detect CNV regions (CNVR) by analyzing the coverage graph obtained by aligning the giga-sequencing data onto the human reference sequence. The proposed algorithm proceeds in two steps: a filtering step and a post-processing step. In the filtering step, it takes several shape parameters as input and extracts candidate CNVRs having various depth and width. In the post-processing step, it revises the candidate regions to make up for errors potentially included in the reference sequence and giga-sequencing data, and filters out regions with high ratio of GC-contents, and returns the final result set from those candidate CNVRs. To verify the superiority of our approach, we performed extensive experiments using giga-sequencing data publicly opened by "1000 genome project" and verified the accuracy by comparing our results with those registered in DGV database. The result revealed that our approach successfully finds the CNVR having various shapes (gains or losses) in HLA (Human Leukocyte Antigen) region.

Clinical significance of APOB inactivation in hepatocellular carcinoma

  • Lee, Gena;Jeong, Yun Seong;Kim, Do Won;Kwak, Min Jun;Koh, Jiwon;Joo, Eun Wook;Lee, Ju-Seog;Kah, Susie;Sim, Yeong-Eun;Yim, Sun Young
    • Experimental and Molecular Medicine
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    • v.50 no.11
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    • pp.7.1-7.12
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    • 2018
  • Recent findings from The Cancer Genome Atlas project have provided a comprehensive map of genomic alterations that occur in hepatocellular carcinoma (HCC), including unexpected mutations in apolipoprotein B (APOB). We aimed to determine the clinical significance of this non-oncogenetic mutation in HCC. An Apob gene signature was derived from genes that differed between control mice and mice treated with siRNA specific for Apob (1.5-fold difference; P < 0.005). Human gene expression data were collected from four independent HCC cohorts (n = 941). A prediction model was constructed using Bayesian compound covariate prediction, and the robustness of the APOB gene signature was validated in HCC cohorts. The correlation of the APOB signature with previously validated gene signatures was performed, and network analysis was conducted using ingenuity pathway analysis. APOB inactivation was associated with poor prognosis when the APOB gene signature was applied in all human HCC cohorts. Poor prognosis with APOB inactivation was consistently observed through cross-validation with previously reported gene signatures (NCIP A, HS, high-recurrence SNUR, and high RS subtypes). Knowledge-based gene network analysis using genes that differed between low-APOB and high-APOB groups in all four cohorts revealed that low-APOB activity was associated with upregulation of oncogenic and metastatic regulators, such as HGF, MTIF, ERBB2, FOXM1, and CD44, and inhibition of tumor suppressors, such as TP53 and PTEN. In conclusion, APOB inactivation is associated with poor outcome in patients with HCC, and APOB may play a role in regulating multiple genes involved in HCC development.

Positional cloning in mice: a new mutant mouse, Sims (Sexual Immaturity, Megaencephaly, and Seizure)

  • Koo, S.K.;Jin, S.J.;Lee, K.S.;Oh, B.S.
    • Proceedings of the Zoological Society Korea Conference
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    • 1999.10b
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    • pp.31-31
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    • 1999
  • Characterization of mutant mice has been utilized as an animal model for the study of human inherited diseases. In addition to the pathogenesis stduy using the mutant mice, the mice have been used for the identification of the genes causing the phenotypes. Functional cloning and positional cloning are two approaches, depending on the phenotypes of the mutant mice. Though it takes a long time positional cloning has been well used to identify the gene of which function can not be presumed from the mouse phenotype. Recently by the advance of the molecular tools and the human genome project close to 10,000 genetic markers are developed to make the procedure faster. We obtained a new mutant mouse, sims, spontaneously arose and the affected mouse has a mild tremor and seizure was observed. Homozygote in either sex is sterile since uterus growth in female and seminal vesicle in male are not induced for the growth in puberty, implying the abnormal hormonal regulation during puberty. Supporting this, there is no detectable testosterone in the serum of the mutant male and the brain of the mutant is 30% heavier than littermate. To identify the location of the mutated gene, intraspecies cross to CAST/Ei was carried out and the 37 affected mice was analyzed for the linkage. The gene was mapped on chromosome 18, 20 cM from the centromere. More than 500 F2 progenies have been analyzed for the linkage and the locus becomes narrow within 3cM between Egrl and Fgf gene.f gene.

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Possibility of Epigenetic Phenomenon of the three Major Famine and 4.3 Incident in Jeju (제주 3대 대(大)기근과 4.3사건의 후성유전(後成遺傳)(Epigenetic)현상 개연성)

  • Lee, Moon Ho;Kim, Jeong Su
    • The Journal of the Convergence on Culture Technology
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    • v.5 no.2
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    • pp.45-52
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    • 2019
  • The human genome project decoded 99% of human genes for $ 3 billion by 1990-2003. However, as many studies on genes have progressed, it has become clear that there are many cases where diseases occur without structural alteration of genes. The latest study, Epigenetics, has come up with the answer to this problem. The famine that hit Jeju until 1670-1795, the ban on the exclusion of Jeju Island to the outside 200 years of suffering, and in 1948, one third of the citizens were killed by the 4.3 incident generate Epigenetic. It has been shown in the world history science that starving-stress can be manifested as obesity and disease in progeny due to hereditary phenomena. 5G-based healthcare IoT technology can be used for the treatment of obesity by enabling Epigenetic analysis of this phenomenon.

Topography of Post-Genomic Researches in Korea: Governance and Institutional Polymorphism (포스트게놈 시대의 국내 유전체연구 현황: 한국적 거버넌스의 제도적 다형성 연구)

  • Lee, June-Seok
    • 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.

Risk assessment for clinical attachment loss of periodontal tissue in Korean adults

  • Rheu, Gun-Bak;Ji, Suk;Ryu, Jae-Jun;Lee, Jung-Bok;Shin, Chol;Lee, Jeong-Yol;Huh, Jung-Bo;Shin, Sang-Wan
    • The Journal of Advanced Prosthodontics
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    • v.3 no.1
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    • pp.25-32
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    • 2011
  • PURPOSE. The purpose of this study was to assess the prevalence and extent of clinical attachment loss of periodontal tissue and to find out variables related to clinical attachment loss (CAL) in Korean adults older than 40 years of age. MATERIALS AND METHODS. Data were collected from 2,519 subjects who were part of a cohort study conducted in Ansan city by Korea University Medical School for Korean Genome project. Age, sex, smoking, drinking, fast glucose, blood pressure, obesity and total cholesterol levels were examined. The oral examination included probing pocket depth, gingival recession and CAL of Ramford's teeth. The severity of periodontitis was classified based on the mean value of CAL. The relationship between each risk factor and the severity of CAL was independently estimated using the chi-square test, the test or one-way ANOVA. Multiple regression analysis was used to determine the significance of each factor in the periodontal disease. RESULTS. The prevalences of clinical attachment between 1 and 3 mm, between 3 and < 5 mm, and ${\geq}$ 5 mm were 80.27%, 16.75% and < 1%, respectively. Although the univariate analysis showed age, gender, smoking, fasting glucose, blood pressure and total cholesterol levels were significantly related to the severity of CAL, multiple regression analysis indicated that age (P < .0001), gender (P < .0001) and smoking (P < .05) were only significantly related. CONCLUSION. Older age, male gender and smoking were significant risk factor for the increase of CAL, and these may be useful indicators of periodontitis high-risk groups.

Building Intelligent User Interface Agent for Semantically Reformulating User Query in Medicine

  • Yang, Jung-Jin;Lim, Chae-Myung;Chu, Sung-Joon;Lee, Dong-Hoon;Park, Duck-Whan;Park, Tae-Yong
    • Journal of Intelligence and Information Systems
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    • v.9 no.2
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    • pp.101-119
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    • 2003
  • Achieving the beneficiary goal of recent discovery in human genome project still needs a way to retrieve and analyze the exponentially expanding bio-related information. Research on bio-related fields naturally applies knowledge discovered to the current problem and make inferences to extract new information where shared concepts and data containing information need to be defined and used in a coherent way. In such a professional domain, while the need to help users reduce their work and to improve search results has been emerged, methods for systematic retrieval and adequate exchange of relevant information are still in their infancy. The design of our system aims at improving the quality of information retrieval in a professional domain by utilizing both corpus-based and concept-based ontology. Meta-rules of helping users to make an adequate query are formed into an ontology in the domain. The integration of those knowledge permits the system to retrieve relevant information in a more semantic and systematic fashion. This work mainly describes the query models with details of GUI and a secondary query generation of the system.

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Relationship between tooth loss and carotid intima-media thickness in Korean adults

  • Chin, Ui-Jung;Ji, Suk;Lee, Su-Young;Ryu, Jae-Jun;Lee, Jung-Bok;Shin, Chol;Shin, Sang-Wan
    • The Journal of Advanced Prosthodontics
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    • v.2 no.4
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    • pp.122-127
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    • 2010
  • PURPOSE. The aim of this study was to examine the relationship between tooth loss and sub-clinical atherosclerosis in Korean adults. MATERIALS AND METHODS. The subjects were part of a cohort study conducted in Ansan city by the Korea University medical school as part of the Korean Genome project. 749 subjects over than 40 years old were evaluated. After taking panoramic radiography, the amount of tooth loss was calculated. The intima-media thickness (IMT) was assessed by using ultrasonography at the common carotid artery. Traditional cardiovascular risk factors for atherosclerosis were also evaluated. The relationship between tooth loss and the IMT was evaluated using ANOVA with Scheffe's multiple comparison method in univariate analysis. Multiple regression analysis was also performed to determine the significance between the IMT and tooth loss. RESULTS. With age, tooth loss increased, but there was no significant increase in other traditional cardiovascular risk factors. Univariate analysis revealed the IMT to be positively related with the amount of tooth loss. Regression analysis of the IMT in the anterior and posterior tooth loss revealed that only the posterior tooth loss was significantly related with the IMT at all sites of the common carotid artery (right far wall, P = .015; left far wall, P = .008; right near wall, P < .001; left near wall, P = .001). CONCLUSION. This study verified the positive relationship between the increased tooth loss at the posterior area and the accumulation of atheroma in arteries.

A Comparative Analysis of Bioinformation Website Services (생명정보 분야 웹사이트 서비스에 대한 비교.분석에 관한 연구)

  • Ahn, Bu-Young;Lee, Eung-Bong
    • Journal of Information Management
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    • v.40 no.1
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    • pp.157-181
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    • 2009
  • As the information technology is evolved and the human genome project is finalized over the world, the Bioinformatics - the integration of abundant Biological science and information technology - has shown up and is continuously being advanced. Together with the evolution of Bioinformatics, the websites dealing with Bioinformation have been set up to provide relevant information to the Bioscientists. Among the numerous global websites, the preferred websites by the majority of domestic Bioscientists are BRIC (Biological Research Information Center) of POSTECH(Pohang University of Science and Technology) in Korea, CCBB(Center for Computational Biology and Bioinformatics) of KISTI(Korea Institute of Science and Technology Information), KOBIC(Korean Bioinformation Center) of KRIBB(Korea Research Institute of Bioscience and Biotechnology), NCBI(National Center for Biotechnology Information) in USA, EBI(European Bioinformatics Institute) in Europe and DDBJ(DNA Data Bank of Japan) in Japan. In this paper, the comparative analysis was executed by investigating contents status and functions of the above-mentioned 6 websites. In addition, questionnaire survey of Bioscience Researchers' utilization status and their needs to those 6 websites was conducted.