• 제목/요약/키워드: Human Genome

검색결과 896건 처리시간 0.03초

In Silico Functional Assessment of Sequence Variations: Predicting Phenotypic Functions of Novel Variations

  • Won, Hong-Hee;Kim, Jong-Won
    • Genomics & Informatics
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    • 제6권4호
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    • pp.166-172
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    • 2008
  • A multitude of protein-coding sequence variations (CVs) in the human genome have been revealed as a result of major initiatives, including the Human Variome Project, the 1000 Genomes Project, and the International Cancer Genome Consortium. This naturally has led to debate over how to accurately assess the functional consequences of CVs, because predicting the functional effects of CVs and their relevance to disease phenotypes is becoming increasingly important. This article surveys and compares variation databases and in silico prediction programs that assess the effects of CVs on protein function. We also introduce a combinatorial approach that uses machine learning algorithms to improve prediction performance.

A need of convergence between personal genomics and Korean medicinal typology

  • Kim, Jinju;Chung, Joo-Ho;Jung, Sung-Ki
    • 셀메드
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    • 제3권2호
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    • pp.11.1-11.2
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    • 2013
  • Advances in individual genome sequencing technology and next generation sequencing technology have allowed for widespread research of human genome, which would give us opportunities not only to change our focus from the experience-based Korean medicine including typology and Sasang constitution to the evidence-based Korean medicine but to provide effective tailored medical care and Tang theory.

A Phylogenetic Analysis for Hox Linked Gene Families of Vertebrates

  • Kim, Sun-Woo;Jung, Gi-La;Lee, Jae-Hyoun;Park, Ha-Young;Kim, Chang-Bae
    • Animal cells and systems
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    • 제12권4호
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    • pp.261-267
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    • 2008
  • The human chromosomes 2, 7, 12 and 17 show genomic homology around Hox gene clusters, is taken as evidence that these paralogous gene families might have arisen from a ancestral chromosomal segment through genome duplication events. We have examined protein data from vertebrate and invertebrate genomes to analyze the phylogenetic history of multi-gene families with three or more of their representatives linked to human Hox clusters. Topology comparison based upon statistical significance and information of chromosome location for these genes examined have revealed many of linked genes coduplicated with Hox gene clusters. Most linked genes to Hox clusters share the same evolutionary history and are duplicated in concert with each other. We conclude that gene families linked to Hox clusters may be suggestion of ancient genome duplications.

Human Genome 시대에 부응하는 사상체질의학(四象體質醫學)의 역할과 치료정신 (The Role and Treatment Mind of Sasang Constitutional Medicine in Human Genome Age)

  • 송일병
    • 사상체질의학회지
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    • 제15권2호
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    • pp.1-8
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    • 2003
  • 1. Objects of Research This research is purposed to find role and treatment mind of Sasang constitutional medicine in human genome age, through summarizing recognition of human and etiology. treatment on diseases proposed in Sasang constitutional medicine 2. Methods of Research It was researched as bibliologically with Dong-mu's chief medical writings such as ${\ulcorner}Dongyi$ Soose Bowon(東醫壽世保元)${\lrcorner}$, ${\ulcorner}$Dongyi Soose Bowon Sasang Chongyun(東醫壽世保元四象草本卷${\lrcorner}$. 3. Results and Conclusions 1. The outlook on human of Sasang Constitutional Medicine was completed in the base on Confusianism and it recognized that human is consisted with congenital element based on 'Human nature-shape' and acquired element based on Knowledge-Acting. Dong-mu emphasised acquired element than inborn element. 2. Sasang Constitutional Medicine is thought that we ran overcome inborn limitation of each constitution through moral culture of aposteriori Knowledge-Acting. and that self-correction is methods which is applied to treatment of disease recovering Essential Qi of each constitution with moral culture of personality 3. Sasang Constitutional Medicine is recognizing Essential Qi by main standard that foretell prognosis of disease and emphasize recovery of Essential Qi through self-correction than way of 'Assisting-Good Qi' and 'Removig-Bad Qi' in treatment of disease. 4. Self-correction can be divided into non-herbal self-correction and herbal self-correction. Non-herbal self-correction is to control greed by aposteriori Knowledge-Acting and herbal self-correction is to recover Essential Qi by herb. 5. It is thought that the present constitutional disease is consisted by accumulating life habit nature of a disease of ordinary times, and Sasang Constitutional Medicine that present constitutional disease is treated through administration of life habit nature of a disease of ordinary times in Sasang Constitutional Medicine. 6. Treatment mind to correct oneself into Golden Mean through controlling Knowledge-Acting in Sasang Constitutional Medicine may get into important treatment guide of gene medicine age.

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Development of Proteomics and Applications of Proteomics in Toxicology

  • Jung, Woon-Won;Huh, Yoon-Ee;Ryu, Jae-Chun;Lee, Eun-Il;Sul, Dong-Geun
    • Molecular & Cellular Toxicology
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    • 제1권1호
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    • pp.7-12
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    • 2005
  • Proteomics has recently received intense scientific interest after the completion of the Human Genome Project, because this genome-based high technology allows to search new drug targets or diagnostic markers. Many proteome projects including Human plasma proteome projects (HPPP), Human liver proteome projects (HLPP), Human brain proteome projects (HBPP), and Mouse and Rat Proteome Project (MRPP) have been carried out and proteomic analytical techniques have been developed in second dimensional electrophoresis (2-DE) and LC/MS system. This powerful method has been applied in toxicology producing a new term "Toxicoproteomics". In this review, recent proteome projects, proteomic technologies, and toxicoproteomics will be discussed.

Non-negligible Occurrence of Errors in Gender Description in Public Data Sets

  • Kim, Jong Hwan;Park, Jong-Luyl;Kim, Seon-Young
    • Genomics & Informatics
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    • 제14권1호
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    • pp.34-40
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    • 2016
  • Due to advances in omics technologies, numerous genome-wide studies on human samples have been published, and most of the omics data with the associated clinical information are available in public repositories, such as Gene Expression Omnibus and ArrayExpress. While analyzing several public datasets, we observed that errors in gender information occur quite often in public datasets. When we analyzed the gender description and the methylation patterns of gender-specific probes (glucose-6-phosphate dehydrogenase [G6PD], ephrin-B1 [EFNB1], and testis specific protein, Y-linked 2 [TSPY2]) in 5,611 samples produced using Infinium 450K HumanMethylation arrays, we found that 19 samples from 7 datasets were erroneously described. We also analyzed 1,819 samples produced using the Affymetrix U133Plus2 array using several gender-specific genes (X (inactive)-specific transcript [XIST], eukaryotic translation initiation factor 1A, Y-linked [EIF1AY], and DEAD [Asp-Glu-Ala-Asp] box polypeptide 3, Y-linked [DDDX3Y]) and found that 40 samples from 3 datasets were erroneously described. We suggest that the users of public datasets should not expect that the data are error-free and, whenever possible, that they should check the consistency of the data.

Perspectives provided by leopard and other cat genomes: how diet determined the evolutionary history of carnivores, omnivores, and herbivores

  • Kim, Soonok;Cho, Yun Sung;Bhak, Jong;O'Brian, Stephen J.;Yeo, Joo-Hong
    • BMB Reports
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    • 제50권1호
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    • pp.3-4
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    • 2017
  • Recent advances in genome sequencing technologies have enabled humans to generate and investigate the genomes of wild species. This includes the big cat family, such as tigers, lions, and leopards. Adding the first high quality leopard genome, we have performed an in-depth comparative analysis to identify the genomic signatures in the evolution of felid to become the top predators on land. Our study focused on how the carnivore genomes, as compared to the omnivore or herbivore genomes, shared evolutionary adaptations in genes associated with nutrient metabolism, muscle strength, agility, and other traits responsible for hunting and meat digestion. We found genetic evidence that genomes represent what animals eat through modifying genes. Highly conserved genetically relevant regions were discovered in genomes at the family level. Also, the Felidae family genomes exhibited low levels of genetic diversity associated with decreased population sizes, presumably because of their strict diet, suggesting their vulnerability and critical conservation status. Our findings can be used for human health enhancement, since we share the same genes as cats with some variation. This is an example how wildlife genomes can be a critical resource for human evolution, providing key genetic marker information for disease treatment.

SNPHarvester를 활용한 주요 유전자 상호작용 효과 감명 (Identify Major Gene-Gene Interaction Effects Using SNPHarvester)

  • 이제영;김동철
    • Communications for Statistical Applications and Methods
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    • 제16권6호
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    • pp.915-923
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    • 2009
  • 광범위 유전자 연관(genome-wide association) 연구에서는 무수히 많은 유전자들 중에 인간의 질병에 관련된 유전자를 찾아왔다. 기존의 인간 질병에 관련된 유전자를 찾는 방법에서 이렇게 많은 유전자들 중에서 우수한 유전자를 찾는데 직접 이용할 시에는 계산이 복잡해지고 비용이 많이 들어가며 시간이 오래 걸린다는 단점이 생긴다. 따라서 이번 수많은 유전자들 중 주요 유전자 그룹을 찾는 방법으로 SNPHarvester가 개발되였다. 본 연구에서는 인간의 질병이 아닌 한우의 여러 경제형질에 관련된 우수 유전자를 SNPHarvester를 이용하여 17 개의 SNP들 중에서 우수한 유전자 그룹을 찾았고 의사결정나무(decision tree)를 이용하여 한우의 여러 경제형질을 높일 수 있는 SNP 그룹 내의 우수 유전자형도 함께 규명할 수 있었다.

Functional Annotation and Analysis of Korean Patented Biological Sequences Using Bioinformatics

  • Lee, Byung Wook;Kim, Tae Hyung;Kim, Seon Kyu;Kim, Sang Soo;Ryu, Gee Chan;Bhak, Jong
    • Molecules and Cells
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    • 제21권2호
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    • pp.269-275
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    • 2006
  • A recent report of the Korean Intellectual Property Office(KIPO) showed that the number of biological sequence-based patents is rapidly increasing in Korea. We present biological features of Korean patented sequences though bioinformatic analysis. The analysis is divided into two steps. The first is an annotation step in which the patented sequences were annotated with the Reference Sequence (RefSeq) database. The second is an association step in which the patented sequences were linked to genes, diseases, pathway, and biological functions. We used Entrez Gene, Online Mendelian Inheritance in Man (OMIM), Kyoto Encyclopedia of Genes and Genomes (KEGG), and Gene Ontology (GO) databases. Through the association analysis, we found that nearly 2.6% of human genes were associated with Korean patenting, compared to 20% of human genes in the U.S. patent. The association between the biological functions and the patented sequences indicated that genes whose products act as hormones on defense responses in the extra-cellular environments were the most highly targeted for patenting. The analysis data are available at http://www.patome.net