• Journal of the Korean Data and Information Science Society
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• v.24 no.2
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• pp.277-287
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• 2013

It is important to detect the gene-gene interaction in GWAS (genome-wide association study). There have been many studies on detecting gene-gene interaction. The one is D-MDR (dummy multifoactor dimensionality reduction) method. The goal of this study is to evaluate the power of D-MDR for identifying gene-gene interaction by simulation. Also we applied the method on the identify interaction effects of single nucleotide polymorphisms (SNPs) responsible for economic traits in a Korean cattle population (real data).

• Journal of the Korean Data and Information Science Society
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• v.25 no.5
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• pp.1079-1094
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• 2014

In this paper, we study efficient gene selection methods by using conditional mutual information. We suggest gene selection methods using conditional mutual information based on semiparametric methods utilizing multivariate normal distribution and Edgeworth approximation. We compare our suggested methods with other methods such as mutual information filter, SVM-RFE, Cai et al. (2009)'s gene selection (MIGS-original) in SVM classification. By these experiments, we show that gene selection methods using conditional mutual information based on semiparametric methods have better performance than mutual information filter. Furthermore, we show that they take far less computing time than Cai et al. (2009)'s gene selection but have similar performance.

• Proceedings of the Korean Information Science Society Conference
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• 2006.06a
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• pp.88-90
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• 2006

본 논문에서는 SBML문서를 효율적으로 저장관리 할 수 있는 Gene Ontology 기반의 SBML 문서관리 시스템을 제안한다. SBML은 시스템생물학에서 생화학적 네트워크 데이터의 교환 표준으로 연구 개발되었으며, 다수의 생화학적 네트워크 데이터베이스들이 SBML을 이용하여 데이터를 제공해주고 있다. 이러한 SBML 문서를 통해 서로 다른 데이터베이스 또는 응용 프로그램간 정보를 교환으로 사용되고 있으며, 그 양 또한 급속하게 증가하고 있다. 따라서 본 논문에서는 이러한 대량의 SBML 문서를 효율적으로 저장, 검색 할 수 있는 문서관리시스템을 제안한다. 제안된 시스템은 OODB를 사용하여 효율적으로 SBML 문서를 저장관리하며, Gene Ontology를 기반으로 생화학적 용어의 모호성을 해결하고, SBML문서간의 발생하는 데이터 중복을 제거하여 데이터의 품질을 제고하였다.

• Genomics & Informatics
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• v.12 no.4
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• pp.216-224
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• 2014

Gastritis is a common but a serious disease with a potential risk of developing carcinoma. Helicobacter pylori infection is reported as the most common cause of gastritis, but other genetic and genomic factors exist, especially single-nucleotide polymorphisms (SNPs). Association studies between SNPs and gastritis disease are important, but results on epistatic interactions from multiple SNPs are rarely found in previous genome-wide association (GWA) studies. In this study, we performed computational GWA case-control studies for gastritis in Korea Associated Resource (KARE) data. By transforming the resulting SNP epistasis network into a gene-gene epistasis network, we also identified potential gene-gene interaction factors that affect the susceptibility to gastritis.

• Journal of information and communication convergence engineering
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• v.21 no.2
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• pp.159-166
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• 2023

The COI gene is a sequence of approximately 650 bp at the 5' terminal of the mitochondrial Cytochrome c Oxidase subunit I (COI) gene. As an effective DeoxyriboNucleic Acid (DNA) barcode, it is widely used for the taxonomic identification and evolutionary analysis of species. We created a CNN-LSTM hybrid model by combining the gene features partially extracted by the Long Short-Term Memory ( LSTM ) network with the feature maps obtained by the CNN. Compared to K-Means Clustering, Support Vector Machines (SVM), and a single CNN classification model, after training 278 samples in a training set that included 15 genera from two orders, the CNN-LSTM hybrid model achieved 94% accuracy in the test set, which contained 118 samples. We augmented the training set samples and four genera into four orders, and the classification accuracy of the test set reached 100%. This study also proposes calculating the cosine similarity between the training and test sets to initially assess the reliability of the predicted results and discover new species.

• Biomolecules & Therapeutics
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• v.30 no.1
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• pp.98-116
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• 2022

The small GTPase RhoA has been studied extensively for its role in actin dynamics. In this study, multiple bioinformatics tools were applied cooperatively to the microarray dataset GSE64714 to explore previously unidentified functions of RhoA. Comparative gene expression analysis revealed 545 differentially expressed genes in RhoA-null cells versus controls. Gene set enrichment analysis (GSEA) was conducted with three gene set collections: (1) the hallmark, (2) the Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway, and (3) the Gene Ontology Biological Process. GSEA results showed that RhoA is related strongly to diverse pathways: cell cycle/growth, DNA repair, metabolism, keratinization, response to fungus, and vesicular transport. These functions were verified by heatmap analysis, KEGG pathway diagramming, and direct acyclic graphing. The use of multiple gene set collections restricted the leakage of information extracted. However, gene sets from individual collections are heterogenous in gene element composition, number, and the contextual meaning embraced in names. Indeed, there was a limit to deriving functions with high accuracy and reliability simply from gene set names. The comparison of multiple gene set collections showed that although the gene sets had similar names, the gene elements were extremely heterogeneous. Thus, the type of collection chosen and the analytical context influence the interpretation of GSEA results. Nonetheless, the analyses of multiple collections made it possible to derive robust and consistent function identifications. This study confirmed several well-described roles of RhoA and revealed less explored functions, suggesting future research directions.

• Journal of Microbiology
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• v.44 no.2
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• pp.137-144
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• 2006

The problems associated with gene identification and the prediction of gene structure in DNA sequences have been the focus of increased attention over the past few years with the recent acquisition by large-scale sequencing projects of an immense amount of genome data. A variety of prediction programs have been developed in order to address these problems. This paper presents a review of the computational approaches and gene-finders used commonly for gene prediction in eukaryotic genomes. Two approaches, in general, have been adopted for this purpose: similarity-based and ab initio techniques. The information gleaned from these methods is then combined via a variety of algorithms, including Dynamic Programming (DP) or the Hidden Markov Model (HMM), and then used for gene prediction from the genomic sequences.

• Proceedings of the Korean Information Science Society Conference
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• 1999.10b
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• pp.12-14
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• 1999

Promoter는 transcript start site 앞부분에 위치하여 RNA polymerase가 높은 친화성을 보이며 바인당하는 DNA상의 특별한 부위로서 여기서부터 DNA transcription이 시작된다. function이나 tissue-specific gene들의 그룹별로 그 promoter들의 특이한 패턴들의 조합을 발견함으로써 Specific한 transcription을 조절하는 것으로 알려져 있어 promoter로 인한 그 gene의 정보를 어느 정도 알 수가 있다. 사람의 housekeeping gene promoter들을 EPD(eukaryotic promoter database)와 EMBL nucleic acid sequence database로부터 수집하여 이것들 간에 의미 있게 나타나는 모든 패턴들을 optimization algorithm으로 알려진 genetic algorithm을 이용해서 찾아보았다.

• Genomics & Informatics
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• v.3 no.1
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• pp.30-34
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• 2005

Microarray technology makes it possible to measure the expressions of tens of thousands of genes simultaneously under various experimental conditions. Identifying differentially expressed genes in each single experimental condition is one of the most common first steps in microarray gene expression data analysis. Reasonable choices of thresholds for determining differentially expressed genes are used for the next-stap-analysis with suitable statistical significances. We present a supervised model for identifying DEGs using pathway information based on the global connectivity structure. Pathway information can be regarded as a collection of biological knowledge, thus we are trying to determine the optimal threshold so that the consequential connectivity structure can be the most compatible with the existing pathway information. The significant feature of our model is that it uses established knowledge as a reference to determine the direction of analyzing microarray dataset. In the most of previous work, only intrinsic information in the miroarray is used for the identifying DEGs. We hope that our proposed method could contribute to construct biologically meaningful structure from microarray datasets.

• Proceedings of the Korean Society for Bioinformatics Conference
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• 2001.08a
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• pp.77-102
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• 2001

Different high-throughput chip technologies are available for genome-wide gene expression studies. Quality control and prescreening analysis are important for rigorous analysis on each type of gene expression data. Statistical significance evaluation of differential expression patterns is needed. Major genome institutes develop database and analysis systems for information sharing of precious expression data.