• Title/Summary/Keyword: Genome research

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BioPlace: A Web-Based Collaborative Environment for Effective Genome Research

  • Ahn, Geon-Tae;Kim, Jin-Hong;Kang, Kyung-Mi;Lee, Myung-Joon;Han, In-Seob
    • Journal of Microbiology and Biotechnology
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    • v.14 no.5
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    • pp.1081-1085
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    • 2004
  • Genome research has become very popular in most nations. In order to enhance the efficiency of collaboration among genome research groups, ways to store and share data, communicate with each other, be guided through right research strategies, and to easily use well-established databases. In addition, since techniques and softwares for genome research groups are well established, a similar research road map could commonly be applied. In this study, we developed a web-based work place for effective genome research, named 'BioPlace.' From the beginning of writing a proposal, research members can work on the same environment with convenient aid to share files or data. BioPlace provides various ways of collaboration methods among genome researchers. The BioPlace system supports two types of workplaces, namely 'Personal Workspace' and 'Team Workspace.' For each BioPlace user, a Persona] Workspace is provided, while a Team Workspace is provided for each group with the same purpose. In addition, BioPlace provides a 'General Research Road Map' for genome research, and several Korean user interfaces for BLAST, PDB, and Primer3. We expect that BioPlace may facilitate collaboration of genome research among the experienced scientists and help beginners in many different ways as well.

Cloning of Notl-linked DNA Detected by Restriction Landmark Genomic Scanning of Human Genome

  • Kim Jeong-Hwan;Lee Kyung-Tae;Kim Hyung-Chul;Yang Jin-Ok;Hahn Yoon-Soo;Kim Sang-Soo;Kim Seon-Young;Yoo Hyang-Sook;Kim Yong-Sung
    • Genomics & Informatics
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    • v.4 no.1
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    • pp.1-10
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    • 2006
  • Epigenetic alterations are common features of human solid tumors, though global DNA methylation has been difficult to assess. Restriction Landmark Genomic Scanning (RLGS) is one of technology to examine epigenetic alterations at several thousand Notl sites of promoter regions in tumor genome. To assess sequence information for Notl sequences in RLGS gel, we cloned 1,161 unique Notl-linked clones, compromising about 60% of the spots in the soluble region of RLGS profile, and performed BLAT searches on the UCSC genome server, May 2004 Freeze. 1,023 (88%) unique sequences were matched to the CpG islands of human genome showing a large bias of RLGS toward identifying potential genes or CpG islands. The cloned Notl-loci had a high frequency (71%) of occurrence within CpG islands near the 5' ends of known genes rather than within CpG islands near the 3' ends or intragenic regions, making RLGS a potent tool for the identification of gene-associated methylation events. By mixing RLGS gels with all Notl-linked clones, we addressed 151 Notl sequences onto a standard RLGS gel and compared them with previous reports from several types of tumors. We hope our sequence information will be useful to identify novel epigenetic targets in any types of tumor genome.

Genetic Variants of IL-13 and IL-4 in the Korean Population: Polymorphisms, Haplotypes and Linkage Disequilibrium

  • Ryu, Ha-Jung;Jung, Ho-Youl;Park, Jung-Sun;Kim, Jun-Woo;Kim, Hyung-Tae;Park, Choon-Sik;Han, Bok-Ghee;Koh, In-Song;Park, Chan;Kimm, Ku-Chan;Oh, Berm-Seok;Lee, Jong-Keuk
    • Genomics & Informatics
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    • v.3 no.4
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    • pp.149-153
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    • 2005
  • Asthma is an inflammatory airways disease characterized by bronchial hyperresponsiveness and airways obstruction, which results from a complex interaction of genetic and environmental factors. Interleukin (IL)-13 and IL-4 are important in IgE synthesis and allergic inflammation, therefore genes encoding IL-13 and IL-4 are candidates for predisposition to asthma. In the present study, we screened single-nucleotide polymorphisms (SNPs) in IL-13 and IL-4 and examined whether they are risk factors for asthma. We resequenced all exons and the promoter region in 12 asthma patients and 12 normal controls, and identified 18 SNPs including 2 novel SNPs. The linkage disequilibrium(LD) pattern was evaluated with 16 common SNPs, and haplotypes were also estimated within the block. Although IL-13 and IL-4 are localized within 27 kb on chromosome 5q31 and share many biological profiles, this region was partitioned into 2 blocks. One SNP and three SNPs were determined as haplotype-taggingSNPs (htSNPs) within IL-13 and IL-4 haplotype-block, respectively. No significant associations were observed between any of the SNPs or haplotypes and development of asthma in small number of Korean subjects. However, the genetic variants of IL-13 and IL-4 would provide valuable strategies for the genotyping studies in large population.

New Approach to the Analysis of Palindromic Structure in Genome Sequences

  • Kim, Seok-Won;Lee, Yong-Seok;Choi, Sang-Haeng;Chae, Sung-Hwa;Kim, Dae-Won;Park, Hong-Seog
    • Genomics & Informatics
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    • v.4 no.4
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    • pp.167-169
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    • 2006
  • PABAP (Palindrome Analysis by BLAST Program) is an analysis system that identifies palindromic sequences from a large genome sequence up to several megabases long. It uses NCBI BLAST as a searching engine, and data processing such as alignment filtration and detection of inverted repeats which satisfy user-defined parameters is performed by manipulating data after populating into a MySQL database. PABAP outperforms publicly available palindrome search program in that it can detect large palindrome with internal spacer at a faster speed from bacterial genomes. It is a standalone application and is freely available for noncommercial users.

Recapitulation of previously reported associations for type 2 diabetes and metabolic traits in the 126K East Asians

  • Choi, Ji-Young;Jang, Hye-Mi;Han, Sohee;Hwang, Mi Yeong;Kim, Bong-Jo;Kim, Young Jin
    • Genomics & Informatics
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    • v.17 no.4
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    • pp.48.1-48.6
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    • 2019
  • Over the last decade, genome-wide association studies (GWASs) have provided an unprecedented amount of genetic variations that are associated with various phenotypes. However, previous GWAS were mostly conducted in European populations, and these biased results for non-Europeans may result in a significant reduction in risk prediction for non-Europeans. An issue with the early GWAS was the winner's curse problem, which led to misleading results when constructing the polygenic risk scores (PRS). Therefore, more non-European population-based studies are needed to validate reported variants and improve genetic risk assessment across diverse populations. In this study, we validated 422 variants independently associated with glycemic indexes, liver enzymes, and type 2 diabetes in 125,872 samples from a Korean population, and further validated the results by assessing publicly available summary statistics from European GWAS (n = 898,130). Among the 422 independently associated variants, 284, 320, and 361 variants were replicated in Koreans, Europeans, and either one of the two populations. In addition, the effect sizes for Koreans and Europeans were moderately correlated (r = 0.33-0.68). However, 61 variants were not replicated in both Koreans and Europeans. Our findings provide valuable information on effect sizes and statistical significance, which is essential to improve the assessment of disease risk using PRS analysis.

D2GSNP: a web server for the selection of Single Nucleotide Polymorphisms within human disease genes

  • Kang Hyo-Jin;Hong Tae-Hui;Chung Won-Hyong;Kim Young-Uk;Jung Jin-Hee;Hwang So-Hyun;Han A-Reum;Kim Young-Joo
    • Genomics & Informatics
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    • v.4 no.1
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    • pp.45-47
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    • 2006
  • D2GSNP is a web-based server for the selection of single nucleotide polymorph isms (SNPs) within genes related to human diseases. The D2GSNP is based on a relational database created by downloading and parsing OMIM, GAD, and dbSNP, and merging it with positional information of UCSC Golden Path. Totally our server provides 5,142 and 1,932 non-redundant disease genes from OMIM and GAD, respectively. With the D2GSNP web interface, users can select SNPs within genes responding to certain diseases and get their flanking sequences for further genotyping experiments such as association studies.

Genome Mapping of an Extreme Thermophile, Thermus caldophilus GK24

  • Park, Jong Hoon;Park, Byung Chul;Koch, Suk Hoon;Kim, Joong Soo;Koh, Jeong Heon;Yang, Moon Hee;Kim, Yong Sung;Kim, Cheorl Ho;Kim, Myoung Hee;Kwon, Suk Tae;Lee, Dae-Sil
    • Genomics & Informatics
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    • v.1 no.1
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    • pp.50-54
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    • 2003
  • Genome of an extreme thermophile, Thermus caldophilus GK24 has been analyzed to construct the genomic map. The genomic DNAs encapsulated in agarose gel were digested with SspI, EcoRI, SpeI, and HpaI restriction endonucleases, and then the resulting genomic DNA fragments were analyzed by pulsed-field gel electrophoresis. Its restriction map has been constructed by analyzing sizes of the restriction fragments obtained from both complete and partial digestions. The circular form of its genome was composed of about 1.98 Mbp and a megaplasmid. The genomic loci for the genes of xylose isomerase, thioredoxin, tRNA-16S rRNA, 23S rRNA, L5 ribosomal protein, ADP-glucose pyrophosphorylase, DNA-ligase, and Tca DNA polymerase were determined by both Southern hybridization and PCR.