• Title/Summary/Keyword: Bioinformatics study

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Mapping of the Porcine Calpastatin Gene and Association Study of Its Variance with Economic Traits in Pigs

  • Choi, B.H.;Lee, J.S.;Jang, G.W.;Lee, H.Y.;Lee, J.W.;Lee, K.T.;Chung, H.Y.;Park, H.S.;Oh, S.J.;Sun, S.S.;Myung, K.H.;Cheong, I.C.;Kim, T.H.
    • Asian-Australasian Journal of Animal Sciences
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    • v.19 no.8
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    • pp.1085-1089
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    • 2006
  • The objectives of this study were to confirm a location of the calpastatin (CAST) gene in chromosome 2 and to detect associations of genetic variations with economic traits in the porcine CAST gene as a candidate gene for growth and meat quality traits in pigs. Calpastatin is a specific endogenous inhibitor of calpains. The calpain protease system is ubiquitous, and is involved in numerous growth and metabolic processes. Three single nucleotide variations were identified within a 1.6 kb fragment of the porcine CAST gene and these polymorphisms were used for genetic linkage mapping. Linkage and QTL mapping were performed with the National Livestock Research Institute (NLRI) reference families using eight microsatellites and SNP makers in the CAST gene. The porcine CAST gene was mapped adjacent to the markers, SW395 and SW1695 on SSC2 with LOD scores of 15.32 and 8.50, respectively. According to the QTL mapping, a significant association was detected at 82 cM between SW395 and CAST-Hinf I for weight at the age of 30 weeks. In addition, an association study was performed with the $F_2$ animals of NLRI reference families for Hinf I, Msp I and Rsa I polymorphisms in the CAST gene. Two polymorphisms, CAST-Rsa I and CAST-Hinf I, showed significant correlation for growth traits at p<0.01 and p<0.05, respectively.

Preliminary Study of Bioinformatics Patents and Their Classifications Registered in the KIPRIS Database

  • Park, Hyun-Seok
    • Genomics & Informatics
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    • v.10 no.4
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    • pp.271-274
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    • 2012
  • Whereas a vast amount of new information on bioinformatics is made available to the public through patents, only a small set of patents are cited in academic papers. A detailed analysis of registered bioinformatics patents, using the existing patent search system, can provide valuable information links between science and technology. However, it is extremely difficult to select keywords to capture bioinformatics patents, reflecting the convergence of several underlying technologies. No single word or even several words are sufficient to identify such patents. The analysis of patent subclasses can provide valuable information. In this paper, I did a preliminary study of the current status of bioinformatics patents and their International Patent Classification (IPC) groups registered in the Korea Intellectual Property Rights Information Service (KIPRIS) database.

Estimation of the journal distance of Genomics & Informatics from other bioinformatics-driven journals, 2003-2018

  • Oh, Ji-Hye;Nam, Hee-Jo;Park, Hyun-Seok
    • Genomics & Informatics
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    • v.19 no.4
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    • pp.51.1-51.8
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    • 2021
  • This study explored the trends of Genomics & Informatics during the period of 2003-2018 in comparison with 11 other scholarly journals: BMC Bioinformatics, Algorithms for Molecular Biology: AMB, BMC Systems Biology, Journal of Computational Biology, Briefings in Bioinformatics, BMC Genomics, Nucleic Acids Research, American Journal of Human Genetics, Oncogenesis, Disease Markers, and Microarrays. In total, 22,423 research articles were reviewed. Content analysis was the main method employed in the current research. The results were interpreted using descriptive analysis, a clustering analysis, word embedding, and deep learning techniques. Trends are discussed for the 12 journals, both individually and collectively. This is an extension of our previous study (PMCID: PMC6808643).

Association of -867G>C, -877Gdel, and Exon 5G>T Polymorphisms in the Stearoyl-CoA Desaturase (SCD) Gene with Fatty Acid Composition in the M. longissimus dorsi Muscle of Hanwoo (Korean Cattle)

  • Cho, Yong-Min;Lee, Seung-Hwan;Park, Eung-Woo;Kim, Nam-Kuk;Lim, Da-Jeong;Kim, Kyoung-Hoon;Park, Beom-Young;Lee, Chang-Soo;Oh, Sung-Jong;Kim, Tae-Hun;Yoon, Du-Hak
    • Food Science of Animal Resources
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    • v.30 no.4
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    • pp.655-660
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    • 2010
  • This study aimed to identify genetic polymorphisms associated with fatty acid composition in Hanwoo beef. In this study, three SNPs (-867G>C, -877Gdel and 878T>C) were detected in SCD gene by DNA sequencing and PCR-RFLP. Statistical analysis revealed that 878T>C SNP was significantly associated with total saturated (p=0.016), unsaturated (p=0.016), and monounsaturated fatty acid (p=0.026) composition. However, the other two SNPs (-867G>C and -877Gdel) that are detected in the regulatory region of the SCD gene have no association with the fatty acid composition of Hanwoo meat. The 878C (alanine type) allele was found to be associated with 2.2% higher monounsaturated fatty acid, 1.5% lower saturated fatty acid, and 1.4% higher unsaturated fatty acid content than those associated with the 878T (valine type) allele. These results indicate that the non-synonymous SNP (878T>C) in the SCD gene could be a causal mutation that contributes to the MUFA variation in Hanwoo beef.

The Current Trend of Avian Influenza Viruses in Bioinformatics Research (생명정보학적 관점에서의 조류 인플루엔자 연구동향)

  • Ahn, In-Sung;Son, Hyeon-S.
    • Journal of Preventive Medicine and Public Health
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    • v.40 no.2
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    • pp.185-190
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    • 2007
  • Objectives : Since the first human infection from avian influenza was reported in Hong Kong in 1997, many Asian countries have confirmed outbreaks of highly pathogenic H5N1 avian influenza viruses. In addition to Asian countries, the EU authorities also held an urgent meeting in February 2006 at which it was agreed that Europe could also become the next target for H5N1 avian influenza in the near future. In this paper, we provide the general and applicable information on the avian influenza in the bioinformatics field to assist future studies in preventive medicine. Methods : We introduced some up-to-date analytical tools in bioinformatics research, and discussed the current trends of avian influenza outbreaks. Among the bioinformatics methods, we focused our interests on two topics: pattern analysis using the secondary database of avian influenza, and structural analysis using the molecular dynamics simulations in vaccine design. Results : Use of the public genome databases available in the bioinformatics field enabled intensive analysis of the genetic patterns. Moreover, molecular dynamic simulations have also undergone remarkable development on the basis of the high performance supercomputing infrastructure these days. Conclusions : The bioinformatics techniques we introduced in this study may be useful in preventive medicine, especially in vaccine and drug discovery.

Association of the CYP17-34T/C Polymorphism with Pancreatic Cancer Risk

  • Hussain, Shahid;Bano, Raisa;Khan, Muhammad Tahir;Khan, Mohammad Haroon
    • Asian Pacific Journal of Cancer Prevention
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    • v.17 no.sup3
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    • pp.71-75
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    • 2016
  • Pancreatic cancer is a leading cause of fatality worldwide. Several population studies have been conducted on genetic diagnosis of pancreatic cancer but the results from epidemiologic studies are very limited. CYP17A gene has a role in disease formation but its influence on pancreatic cancer is unclear. A polymorphism in the 5'UTR promoter region of CYP17A1-34T/C (A1/A2) has been associated with multiple cancers. The aim of the current study was to assess associations of this polymorphism and socio-demographic risk factors with pancreatic cancer. A total of 255 and 320 controls were enrolled in the study, and were genetically analyzed through PCR-RFLP. Statistical analysis was conducted with observed genotype frequencies and odds ratios (ORs) and 95% CIs were estimated using unconditional logistic regression. The impact of socio-demographic factors was accessed through Kaplen-Meir analysis. According to our results, the A2/A2 genotype was significantly associated with pancreatic cancer (OR=2.1, 95%CI = 1.3-3.5). Gender female (OR=2.6, 95%CI=1.8-3.7), age group 80s/80+ years (OR=2.2, 95% CI=1.2-4), smoking both former (OR=4.6, 95% CIs=2.5-8.8) and current (OR=3.6, 95% CI=2-6.7), and family history (OR=7.1; 95%CI = 4.6-11.4) were also found associated with increased risk. Current study suggests that along with established risk factors for pancreatic cancer CYP17A1-34T/C may play a role. However, on the basis of small sample size the argument cannot be fully endorsed and larger scale studies are recommended.

HapAnalyzer: Minimum Haplotype Analysis System for Association Studies

  • Jung, Ho-Youl;Park, Jung-Sun;Park, Yun-Ju;Kim, Young-Jin;Kimm, Kuchan;Koh, InSong
    • Genomics & Informatics
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    • v.2 no.2
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    • pp.107-109
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    • 2004
  • HapAnalyzer is an analysis system that provides minimum analysis methods for the SNP-based association studies. It consists of Hardy-Weinberg equilibrium (HWE) test, linkage disequilibrium (LD) computation, haplotype reconstruction, and SNP (or haplotype)-phenotype association assessment. It is well suited to a case-control association study for the unrelated population.

Mechanistic insight into the progressive retinal atrophy disease in dogs via pathway-based genome-wide association analysis

  • Sheet, Sunirmal;Krishnamoorthy, Srikanth;Park, Woncheoul;Lim, Dajeong;Park, Jong-Eun;Ko, Minjeong;Choi, Bong-Hwan
    • Journal of Animal Science and Technology
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    • v.62 no.6
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    • pp.765-776
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    • 2020
  • The retinal degenerative disease, progressive retinal atrophy (PRA) is a major reason of vision impairment in canine population. Canine PRA signifies an inherently dissimilar category of retinal dystrophies which has solid resemblances to human retinis pigmentosa. Even though much is known about the biology of PRA, the knowledge about the intricate connection among genetic loci, genes and pathways associated to this disease in dogs are still remain unknown. Therefore, we have performed a genome wide association study (GWAS) to identify susceptibility single nucleotide polymorphisms (SNPs) of PRA. The GWAS was performed using a case-control based association analysis method on PRA dataset of 129 dogs and 135,553 markers. Further, the gene-set and pathway analysis were conducted in this study. A total of 1,114 markers associations with PRA trait at p < 0.01 were extracted and mapped to 640 unique genes, and then selected significant (p < 0.05) enriched 35 gene ontology (GO) terms and 5 Kyoto Encyclopedia of Genes and Genomes (KEGG) pathways contain these genes. In particular, apoptosis process, homophilic cell adhesion, calcium ion binding, and endoplasmic reticulum GO terms as well as pathways related to focal adhesion, cyclic guanosine monophosphate)-protein kinase G signaling, and axon guidance were more likely associated to the PRA disease in dogs. These data could provide new insight for further research on identification of potential genes and causative pathways for PRA in dogs.