• Title/Summary/Keyword: Human Genome Project

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The Korean HapMap Project Website

  • Kim, Young-Uk;Kim, Seung-Ho;Jin, Hoon;Park, Young-Kyu;Ji, Mi-Hyun;Kim, Young-Joo
    • Genomics & Informatics
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    • v.6 no.2
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    • pp.91-94
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    • 2008
  • Single nucleotide polymorphisms (SNPs) are the most abundant form of human genetic variation and are a resource for mapping complex genetic traits. A genome is covered by millions of these markers, and researchers are able to compare which SNPs predominate in people who have a certain disease. The International HapMap Project, launched in October, 2002, motivated us to start the Korean HapMap Project in order to support Korean HapMap infrastructure development and to accelerate the finding of genes that affect health, disease, and individual responses to medications and environmental factors. A Korean SNP and haplotype database system was developed through the Korean HapMap Project to provide Korean researchers with useful data-mining information about disease-associated biomarkers for studies on complex diseases, such as diabetes, cancer, and stroke. Also, we have developed a series of software programs for association studies as well as the comparison and analysis of Korean HapMap data with other populations, such as European, Chinese, Japanese, and African populations. The developed software includes HapMapSNPAnalyzer, SNPflank, HWE Test, FESD, D2GSNP, SNP@Domain, KMSD, KFOD, KFRG, and SNP@WEB. We developed a disease-related SNP retrieval system, in which OMIM, GeneCards, and MeSH information were integrated and analyzed for medical research scientists. The kHapMap Browser system that we developed and integrated provides haplotype retrieval and comparative study tools of human ethnicities for comprehensive disease association studies (http://www.khapmap.org). It is expected that researchers may be able to retrieve useful information from the kHapMap Browser to find useful biomarkers and genes in complex disease association studies and use these biomarkers and genes to study and develop new drugs for personalized medicine.

Development of Crystallization Distinction Supporting System Using Image Processing

  • Saito, Kanako;Kawabata, Kuniaki;kunimitsu, Satoshi;Asama, Hajime;Mishima, Taketoshi
    • Proceedings of the IEEK Conference
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    • 2002.07c
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    • pp.1788-1791
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    • 2002
  • In the post-genome era. it is one of important research subject to Investigate the roles of the proteins in human body based on decoded genome information during Human Genome Project. In order to clarify them. it is necessary to analyze the structure of the protein crystals and their function. ' Crystallization is the beginning stage of protein structure determination process. There are some methods for structural analysis of the proteins, and general one is X-ray structural analysis method. In order to utilize this method for analyzing the protein crystal's structure, artificial protein crystallization is required. However, since artificial crystallizing work takes much time and manpower. the performance against its cost is still low. Therefore. we started to discuss to develop a supporting system for improving efficiency of the crystallization distinction procedure. In this paper, we examine to realize such supporting system for crystallization distinction using image-processing technique and report about our experimental result with many real protein solution images.

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Strategy Considerations in Genome Cohort Construction in Korea (한국 유전체 코호트 구축의 전략적 고려사항)

  • Sung, Joo-Hon;Cho, Sung-Il
    • Journal of Preventive Medicine and Public Health
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    • v.40 no.2
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    • pp.95-101
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    • 2007
  • Focusing on complex diseases of public health significance, strategic issues regarding the on-going Korean Genome Cohort were reviewed: target size and diseases, measurements, study design issues, and follow-up strategy of the cohort. Considering the epidemiologic characteristics of Korean population as well as strengths and drawbacks of current research environment, we tried to tailor the experience of other existing cohorts into proposals for this Korean study. Currently 100,000 individuals have been participating the new Genome Cohort in Korea. Target size of de novo collection is recommended to be set as between 300,000 to 500,000. This target size would allow acceptable power to detect genetic and environmental factors of moderate effect size and possible interactions between them. Family units and/or special subgroups are recommended to parallel main body of adult individuals to increase the overall efficiency of the study. Given that response rate to the conventional re-contact method may not be satisfactory, successful follow-up is the main key to the achievement of the Korean Genome Cohort. Access to the central database such as National Health Insurance data can provide enormous potential for near-complete case detection. Efforts to build consensus amongst scientists from broad fields and stakeholders are crucial to unleash the centralized database as well as to refine the commitment of this national project.

A Linguistic Approach to Communication Strategies of Biological Systems (생물체의 정보소통전략에 대한 언어학적 접근)

  • Kim, Soo-Yeon;Oh, Duk Jae
    • KSBB Journal
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    • v.32 no.1
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    • pp.29-34
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    • 2017
  • The completion of the Human Genome Project that identified all 3 billion base pairs in the human genome can be seen as a step towards understanding the relay of information and intention within an organism, or in other words, the language of life. The faculty of human language, key to differentiating humans from other animate species, works for conveying information to others by mapping meaning to sound based on syntactic structures. This resemblance between life and language has not gone unnoticed; the literature on RNA transcription and translation research regularly uses linguistic metaphors and the biolinguistic perspective of language has also been studied. By examining the biological characteristics of language and the linguistic characteristics of life, this study aims to identify key mechanisms shared between the two systems in order to promote a stronger connection between them. It furthers this goal by pointing out two general messages to which these mechanisms aim, productivity and accuracy, and discovers what lesson these messages give to a human society geared for sustainability.

Literature and Genomic Narrative: Richard Powers' The Book of Life (문학과 유전체 내러티브 -리차드 파워스의 생명의 책)

  • Song, Taejeong
    • Journal of English Language & Literature
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    • v.53 no.2
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    • pp.243-260
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    • 2007
  • This article explores how Richard Powers' The Gold Bug Variations, an interdisciplinary novel through the new concepts of biocriticism and bioliterature is connected with literature/art and science/technology. Powers uses Edgar Allen Poe's "The Gold Bug" and Johann Sebastian Bach's "The Goldberg Variations" for decoding DNA in order to analogize a genomic metaphor. He imagines literature as "the book of life" genome, written by DNA code due to the complexity and multiplicity of the genome. His novel, as 'genomic narrative,' shows the articulation of the genomic reading, and expression in the life language through the discourses of the information technology and the rhetorical tropes in biology. New biological ideas are continually required to articulate these processes. In the present tendency of the Human Genome Project, such advanced devices as biocybernetics offer the potential to open up new possibilities to researching the complexity of the genome. This can only happen if the following two ideas are followed: One is to comply with advanced technologies for processing the rapidly increasing data of the genome sequence; The other is to admit the necessary paradigm shift in biology. As shown above, the complexity and multiplicity of the genomic reality is not so simple. We must go beyond determinism, even if representation of a biological reality reveals the possibility of expressing its constituent elements by the advanced biotechnology. Consequently, in the unstoppable advances of the art of decoding the genome, The Gold Bug Variations interrelates to the interdisciplinary approaches through the rhetorical tropes that unfold the complex discursive world of the genome. Powers shows that the complex mechanisms of the genome in the microworld of every cell as the plot of "the book of life" can be designed and written using DNA language. At the same time, his genomic reading and writing demonstrate the historical processes of the shifting center of new genomic development and polysemous interpretation.

Perspectives on Clinical Informatics: Integrating Large-Scale Clinical, Genomic, and Health Information for Clinical Care

  • Choi, In Young;Kim, Tae-Min;Kim, Myung Shin;Mun, Seong K.;Chung, Yeun-Jun
    • Genomics & Informatics
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    • v.11 no.4
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    • pp.186-190
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    • 2013
  • The advances in electronic medical records (EMRs) and bioinformatics (BI) represent two significant trends in healthcare. The widespread adoption of EMR systems and the completion of the Human Genome Project developed the technologies for data acquisition, analysis, and visualization in two different domains. The massive amount of data from both clinical and biology domains is expected to provide personalized, preventive, and predictive healthcare services in the near future. The integrated use of EMR and BI data needs to consider four key informatics areas: data modeling, analytics, standardization, and privacy. Bioclinical data warehouses integrating heterogeneous patient-related clinical or omics data should be considered. The representative standardization effort by the Clinical Bioinformatics Ontology (CBO) aims to provide uniquely identified concepts to include molecular pathology terminologies. Since individual genome data are easily used to predict current and future health status, different safeguards to ensure confidentiality should be considered. In this paper, we focused on the informatics aspects of integrating the EMR community and BI community by identifying opportunities, challenges, and approaches to provide the best possible care service for our patients and the population.

High Throughput Biotechnologies and Their Applications for the Cosmetic Research (초고속 대용량 바이오 기술과 이의 화장품연구 활용 방안)

  • Lee, Tae-Ryong
    • 한국생물공학회:학술대회논문집
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    • 2001.11a
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    • pp.123-138
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    • 2001
  • 최근 인간 유전체 사업(Human Genome Project)의 완성과 DNA Microarray, Proteomics, Bioinformatics 등의 초고속, 대용량 처리 바이오기술 (High Throughput Biotechnology)의 발전과 함께 생명과학 분야의 연구는 획기적인 변화의 시기를 맞이하게 되었다. 이미 의약품 분야는 이러한 기술을 활용한 연구가 보편화 되어있고 선진 외국 회사들의 화장품연구 또한 이를 활용한 연구가 본격화 되고 있다. 화장품개발에 있어서도 이러한 기술들의 활용이 불가피하게 되었다 . 여기서는 이러한 새로운 바이오기술들에 관해 간단히 알아보고 향후 이러한 기술들의 효과적인 화장품개발 관련연구 활용범위와 활용방법에 대하여 알아본다.

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A study of system development for multiple sequence alignment (복수 서열 정렬을 위한 시스템 개발에 관한 연구)

  • Kim, Dong-Hoi;Kim, Jin
    • Proceedings of the Korea Information Processing Society Conference
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    • 2003.05b
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    • pp.1027-1030
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    • 2003
  • 유전체 서열결정이 폭발적으로 증가해 가고 있다. 인간 유전체사업(Human genome project)의 궁극적인 목적은 인간 염색체에 있는 30억개의 뉴클레오티드와 10만개의 유전자를 밝혀내는 것이고 생의학에서 새로운 발견이나 옹용을 위한 정보로 이용하는 것이다. 이 사업은 1980년대 후반에 시작되었고 현재 서열의 결정이 완료된 상태이다. 본 논문에서는 인간 유전체 사업에서 파생된 가장 중요한 문제 중의 하나인 복수 염기서열 정렬 문제와 복수 염기서열 정렬 시스템의 구현에 대하여 논한다.

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An Analysis on the Development Trends of Gene Therapy (유전자치료의 기술개발 동향분석)

  • 손은수;이상필;민완기
    • Journal of Korea Technology Innovation Society
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    • v.5 no.3
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    • pp.340-353
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    • 2002
  • The purpose of this paper was to analyze the development trends of gene therapy. The possibility of technological development and commercialization of gene therapy has been increased along with the success of Human Genome Project. A lot of gene-therapy-based R&D and clinical trials have been advanced. The US and EU have led the global technological development, and Korea is in early stage although many institutions and firms have participated in this area.

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Microarray 자료분석에서 표준화

  • 이성곤;박태성;최호식
    • Proceedings of the Korean Statistical Society Conference
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    • 2001.11a
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    • pp.149-153
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    • 2001
  • 본 논문은 microarray를 분석하기위한 표준화에 대한 여러 방법들을 소개하고 비교해보았다. Microarray 연구는 Human Genome Project에서 파생된 여러 생명공학 기술 중 가장 널리 사용되는 기술로 기존에는 하지 못했던 총체적인 유전자의 발현상황을 탐색할 수 있다는 장점을 지니고 있으나, 자료들에 일정한 패턴이 나타나거나 잡음이 첨가되어 정보의 추출이 용의하지 않다는 단점을 지니고 있다. 특히 자료에 일정한 패턴이 있는 경우에 올바르지 못한 결론을 이끌어낼 수도 있기에 이 패턴을 제거하는 표준화작업은 microarray 분석에 있어서 매우 중요한 처리과정이다. 본 논문에서는 표준화방법들을 소개하고 각각 가지고 있는 장단점을 실제 국내에서 얻어진 자료를 통해 비교하였고, 그 결과 LOWESS 적합을 통한 표준화방법이 타 방법에 비해 유용한 점이 많음을 확인할 수 있었다.

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