• Title/Summary/Keyword: Human Genome

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Birth of an 'Asian cool' reference genome: AK1

  • Kim, Changhoon
    • BMB Reports
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    • v.49 no.12
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    • pp.653-654
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    • 2016
  • The human reference genome, maintained by the Genome Reference Consortium, is conceivably the most complete genome assembly ever, since its first construction. It has continually been improved by incorporating corrections made to the previous assemblies, thanks to various technological advances. Many currently-ongoing population sequencing projects have been based on this reference genome, heightening hopes of the development of useful medical applications of genomic information, thanks to the recent maturation of high-throughput sequencing technologies. However, just one reference genome does not fit all the populations across the globe, because of the large diversity in genomic structures and technical limitations inherent to short read sequencing methods. The recent success in de novo construction of the highly contiguous Asian diploid genome AK1, by combining single molecule technologies with routine sequencing data without resorting to traditional clone-by-clone sequencing and physical mapping, reveals the nature of genomic structure variation by detecting thousands of novel structural variations and by finally filling in some of the prior gaps which had persistently remained in the current human reference genome. Now it is expected that the AK1 genome, soon to be paired with more upcoming de novo assembled genomes, will provide a chance to explore what it is really like to use ancestry-specific reference genomes instead of hg19/hg38 for population genomics. This is a major step towards the furthering of genetically-based precision medicine.

KUGI: A Database and Search System for Korean Unigene and Pathway Information

  • Yang, Jin-Ok;Hahn, Yoon-Soo;Kim, Nam-Soon;Yu, Ung-Sik;Woo, Hyun-Goo;Chu, In-Sun;Kim, Yong-Sung;Yoo, Hyang-Sook;Kim, Sang-Soo
    • Proceedings of the Korean Society for Bioinformatics Conference
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    • 2005.09a
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    • pp.407-411
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    • 2005
  • KUGI (Korean UniGene Information) database contains the annotation information of the cDNA sequences obtained from the disease samples prevalent in Korean. A total of about 157,000 5'-EST high throughput sequences collected from cDNA libraries of stomach, liver, and some cancer tissues or established cell lines from Korean patients were clustered to about 35,000 contigs. From each cluster a representative clone having the longest high quality sequence or the start codon was selected. We stored the sequences of the representative clones and the clustered contigs in the KUGI database together with their information analyzed by running Blast against RefSeq, human mRNA, and UniGene databases from NCBI. We provide a web-based search engine fur the KUGI database using two types of user interfaces: attribute-based search and similarity search of the sequences. For attribute-based search, we use DBMS technology while we use BLAST that supports various similarity search options. The search system allows not only multiple queries, but also various query types. The results are as follows: 1) information of clones and libraries, 2) accession keys, location on genome, gene ontology, and pathways to public databases, 3) links to external programs, and 4) sequence information of contig and 5'-end of clones. We believe that the KUGI database and search system may provide very useful information that can be used in the study for elucidating the causes of the disease that are prevalent in Korean.

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Compositional Correlations in Canine Genome Reflects Similarity with Human Genes

  • Joy, Faustin;Basak, Surajit;Gupta, Sanjib Kumar;Das, Pranab Jyoti;Ghosh, Shankar Kumar;Ghosh, Tapash Chandra
    • BMB Reports
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    • v.39 no.3
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    • pp.240-246
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    • 2006
  • The base compositional correlations that hold among various coding and noncoding regions of the canine genome have been analysed. The distribution pattern of genes, on the basis of $GC_3$ composition, shows a wide range similar to that observed in human. However the occurrence of maximum number of genes was observed in the range of 65-75% of $GC_3$ composition. The correlation between the coding DNA sequences of canine with the different noncoding regions (introns and flanking regions) is found to be significant and in many cases the degree of correlation show similarity to human genome. We found that these correlations are not limited to the GC content alone, but is holding at the level of the frequency of individual bases as well. The present study suggests that canines ideally belong to the predicted 'general mammalian pattern' of genome composition along with human beings.

Advances of Genome Research in Livestock Animals (경제동물 유전체학 연구의 최근 연구 동향)

  • Song, Ki-Duk;Cho, Byung-Wook
    • Journal of Life Science
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    • v.18 no.4
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    • pp.572-579
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    • 2008
  • Genome research in economic animals has progressed rapidly in recent years, transforming from primitive genome maps to quantitative/qualitative trait maps that are indispensable to gene discovery. These advances have been benefited from the result of animal genome sequencing projects and functional genomics that are being extensively applied in livestock animal research following the development of large expressed sequences tags (ESTs). Genome sequencing efforts will provide information to QTL study by larger scale single nucleotide polymorphisms (SNPs) association study. Comparative genomics which is applying the information from human genome research as well as rodents model has contributed to important discoveries in economic animal genome research. These efforts will speed up much denser QTL maps development for phenotypic traits which are not easy to measure and to be identified by quantitative genetics [20] and lead to development of convincing markers associated with economically important trait, which will be eventually applied to livestock industry. In addition to practical application, animal genome research will enrich the understanding of human physiology in terms of genome biology.

BRI3 associates with SCG10 and attenuates NGF-induced neurite outgrowth in PC12 cells

  • Gong, Yanhua;Wu, Jing;Qiang, Hua;Liu, Ben;Chi, Zhikai;Chen, Tao;Yin, Bin;Peng, Xiaozhong;Yuan, Jiangang
    • BMB Reports
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    • v.41 no.4
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    • pp.287-293
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    • 2008
  • In a yeast two-hybrid screen, we identified the microtubule-destabilizing protein SCG10 as a potential effector protein of $BRI_3$. The association was verified using GST pull-down, Co-IP, and their perinuclear co-localization. The analysis of in vitro microtubule polymerization/depolymerization showed that the binding of $BRI_3$ to SCG10 effectively blocked the ability of SCG10 to induce microtubule disassembly, as determined by turbidimetric assays. In intact PC12 cells, $BRI_3$ exhibited the ability to stabilize the microtubule network and attenuate the microtubule-destabilizing activity of SCG10. Furthermore, co-expression of $BRI_3$ with SCG10 attenuated SCG10-mediated PC12 cell neurite outgrowth induced by NGF. These results identify a novel connection between a neuron-specific BRI protein and the cytoskeletal network, suggesting possible roles of BRI3 in the process of neuronal differentiation.

Complete genome sequence of Fusobacterium vincentii KCOM 2931 isolated from a human periodontitis lesion (사람 치주염 병소에서 분리된 Fusobacterium vincentii KCOM 2931의 유전체 염기서열 해독)

  • Park, Soon-Nang;Lim, Yun Kyong;Shin, Ja Young;Roh, Hanseong;Kook, Joong-Ki
    • Korean Journal of Microbiology
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    • v.54 no.1
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    • pp.74-76
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    • 2018
  • Recently, Fusobacterium nucleatum subsp. vincentii was reclassified as Fusobacterium vincentii based on the average nucleotide identity and genome-to-genome distance analyses. F. vincentii is a Gram-negative, anaerobic, and filament-shaped bacterium. F. vincentii is a member of normal flora of human oral cavity and plays a role in periodontal diseases. F. vincentii KCOM 2931 was isolated from a periodontitis lesion. Here, we present the complete genome sequence of F. vincentii KCOM 2931.

Draft genome sequence of Fusobacterium polymorphum KCOM 1001 isolated from a human subgingival dental plaque of gingivitis lesion (사람 치은염 병소 치은연하치면 세균막에서 분리된 Fusobacterium polymorphum KCOM 1001의 유전체 염기서열 해독)

  • Park, Soon-Nang;Lim, Yun Kyong;Shin, Ja Young;Roh, Hanseong;Kook, Joong-Ki
    • Korean Journal of Microbiology
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    • v.54 no.1
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    • pp.71-73
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    • 2018
  • Recently, Fusobacterium nucleatum subsp. polymorphum was reclassified as Fusobacterium polymorphum based on the average nucleotide identity and genome-to-genome distance analyses. F. polymorphum is a Gram-negative, anaerobic, and filament-shaped bacterium. F. polymorphum is a part of normal flora of oral cavity and causative agent of periodontal diseases. F. polymorphum KCOM 1001 (= ChDC F119) was isolated from a human subgingival plaque of gingivitis lesion. Here, we present the complete genome sequence of F. polymorphum KCOM 1001.

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.

DNA Fragment Assembly

  • 박근수
    • Proceedings of the Korean Society for Bioinformatics Conference
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    • 2002.06a
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    • pp.105-121
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    • 2002
  • 최근 인간 지놈(genome)의 DNA가 밝혀져서 많은 관심을 받았는데, 이를 수행하는 방법을 소개한다. Human Genome Project에서 채택한 BAC-to-BAC 방식과 Celera 회사에서 채택한 whole genome shotgun 방식을 설명한다. 또한 두 방식에서 공히 fragment assembly 프로그램을 사용하는데, 이 프로그램의 개요를 설명한다.

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