• Journal of the Korean Data and Information Science Society
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• v.22 no.4
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• pp.661-669
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• 2011

By direct sequencing of 12 STS marker, we identified 10 polymorphic SNPs. As a result of genotype frequency analysis between 10 polymorphic SNPs and extreme population (n=20) for marbling score in Hanwoo (n=233), there was over 40 percent of frequency difference of HWSNP_1-1 and HWSNP_9-4 SNP. HWSNP_1-1 SNP was significantly associated with marbling score in large-scale population (n=233). Therefore we suggested that HWSNP_1-1 SNP can be useful as a positional candidate for beef quality for marker-assisted selection in Hanwoo.

• Proceedings of the Korean Society of Computer Information Conference
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• 2016.07a
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• pp.21-24
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• 2016

전장유전체 연관성 연구에서 상위성 탐색은 많은 단일염기다형성 수로 인해 계산이 어렵기 때문에 네트워크에서의 탐색을 이용한 방법이 사용되고 있다. 그러나 전장유전체 연관성 연구에서 단일염기다형성들의 상위성 네트워크의 구성 역시 큰 계산 비용을 필요로 한다. 본 논문에서는 단일염기다형성과 표현형의 상호정보량을 이용한 네트워크를 구성하는데 드는 시간을 줄이는 알고리즘을 제안한다. 또한 표본 크기별로 계산 시간을 실험해 보았으며, 기존의 방법과 비교해 실행 속도가 향상됨을 보였다.

• Journal of Digital Contents Society
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• v.19 no.9
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• pp.1795-1801
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• 2018

Genome-Wide Association Study (GWAS) have been used to identify susceptibility genes for complex human diseases and many recent studies succeed to report common genetic factors for various diseases. Unfortunately, it is hard to understand all biological functions and mechanisms around the complex disease with GWAS only although the number of known associated genes with diseases is increased drastically because GWAS is a single locus based approach while not a gene but numerous factors may affect a disease associated pathways. PRaDA generates a combined report with genes, pathways and Gene Ontology (GO) using single nucleotide polymorphism (SNP) analysis output. The PRaDA reports not only directly associated pathways but also functionally related ones for identifying accumulated effects of low p-value SNPs. Through integrated information including indirect functional effects, user could have insights of overall disease mechanisms and markers.

• Journal of the Korean Data and Information Science Society
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• v.27 no.3
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• pp.733-739
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• 2016

The aim of this study was to evaluate combination of each of g.15532 C>A, g.17924 G>A SNP of FASN gene and beef quality grade of progeny in Hanwoo cow. In order to analyze the SNPs, genomic DNA was obtained from 270 Hanwoo cow and their progeny steer and g.15532 C>A and g.17924 G>A SNP was genotyped using single-based extension. Employing GLM as a statistical model. g.15532 C>A and g.17924 G>A SNP have a significant effect in Hanwoo steer but no significant effect in Hanwoo cow. Combination of each of g.15532 C>A, g.17924 G>A SNP and beef quality grade of progeny have a significant effect on marbling score in Hanwoo cow. Therefore, we suggest that g.15532 C>A and g.17924 G>A SNP contribute to genetic improvement on marbling score in Hanwoo cow.

• Journal of Gastric Cancer
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• v.8 no.3
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• pp.113-119
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• 2008

Purpose: This study investigated whether a single nucleotide polymorphism (SNP) located at position -2 in the Kozak sequence of the TFF1 gene is associated with H. pylori infection and the development of gastric cancer in Koreans. Materials and Methods: We enrolled 167 patients with gastric cancer from January 2000 to December 2003 and also 299 healthy controls during the same period. The genotype of the TFF1 SNP was analyzed by polymerase chain reaction-restriction fragment length polymorphism and single strand conformation polymorphism. We also examined the H. pylori infection by Giemsa staining. Results: No significant difference in the allele or the TFF1 SNP genotype frequency was observed between the patients with gastric cancer and the control subjects (P=0.595 and P=0.715, respectively). When stratified by the histological subtype of gastric cancer and the age of the patients, the risk was not statistically significant between the two study groups (P=0.088 and P=0.551, respectively). H. pylori infection was detected in 39 cases and it was not associated with the TFF1 genotype. Conclusion: These findings suggest that this TFF1 gene polymorphism is not associated with H. pylori infection and gastric cancer in Koreans and so it doesn't contribute to the susceptibility to gastric cancer in Koreans.

• Journal of KIISE:Software and Applications
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• v.36 no.9
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• pp.691-696
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• 2009

Introduction: There are two types of asthma according to aspirin hypersensitivity: aspirin intolerant asthma (AIA) and aspirin tolerant asthma (ATA). The genetic risk factors that are related with asthma have been investigated intensively and extensively. However the combinatory effects of single nucleotide polymorphisms (SNPs) have hardly been evaluated. In this paper we searched the best set of SNPs that are useful to diagnose the two types of asthma. Methods: We examined 246 asthmatic patients (94 having aspirin intolerant asthma and 152 having aspirin tolerant asthma) and analyzed 25 SNPs typed in them, which are suspected to be associated with asthma. Normalized mutual information values of combinations of typed SNPs are calculated, and those with high normalized mutual information values are selected. We use support vector machines to evaluate the prediction accuracy of the selected combinations. Results: The best combination model turns out four-locus and consists of ALOX5_p1_1708, B2ADR_q1_46, CCR3_p1_520, CysLTR1_p1_634. Its normalized mutual information value is 0.053 and the accuracy in predicting ATA disease risk among asthmatic patients is 71.14%.

• The Journal of Korean Academy of Prosthodontics
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• v.49 no.4
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• pp.341-345
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• 2011

Genetic association study has been progressed in medicine along with advance in genetic technology. It focused on the individual differences in genotype due to errors occurring during DNA duplication, which can cause vulnerability to specific diseases. Polymorphism defines the varieties in phenotype due to those genetic variations. Polymorphism due to change in one DNA base sequence is called as a Single Nucleotide Polymorphism. In the near future, the evaluation of relative risk to specific disease according to SNP will be essential part of fundamental of medicine for the diagnosis, treatment and prevention. Dental caries and periodontal diseases has been first subject to genetic association study in dentistry and broaden out to other areas like bone formation and resorption. This article presents the current state of genetic association study and its application to dentistry.

• Proceedings of the Korea Information Processing Society Conference
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• 2007.05a
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• pp.605-608
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• 2007

천식(Asthma)과 같은 복합질환(Complex Disease)의 원인과 작용 모델을 찾기 위해서 여러가지 통계적인 방법들과 기계 학습(Machine Learning)의 방법 등이 사용되고 있다. 본 연구에서는 유전 알고리즘을 이용하여 천식 환자와 대조군들을 분류할 수 있는 단일염기 다형성(SNP, Single Nucleotide Polymorphism)의 조합에 대하여 조사한다.

• Journal of the Korean Data and Information Science Society
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• v.20 no.4
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• pp.639-647
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• 2009

From development of computer science, genetic algorithm has been applied to many fields for search like non-linear problem based on various variables and optimization process. Among others, in the data mining field, there are methods to select the best input variables for model accuracy and various predict models which were merged by using the genetic algorithm. In the meantime, to improve and preserve quality of the Hanwoo (Korean cattle) which is represented the agricultural industry in our country, we need to find out outstanding economical traits of Hanwoo in having specific genotype of single nucleotide polymorphism (SNP) which is inherited to next generation. According to, This research proposed the selecting method to find genotype of SNPs marker which affects economical traits of the Hanwoo by using the genetic algorithm. And we selected the best genotypes of the principal SNPs marker by applying to real data on Hanwoo genetic.

• Journal of the Korean Data and Information Science Society
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• v.24 no.1
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• pp.151-159
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• 2013

It is well known that disease of human and economic traits of livestock are affected a lot by gene combination effect rather than a single gene effect. But existing methods have disadvantages such as heavy computing, many expenses and long time. In order to overcome those drawbacks, SNPHarvester was developed to find the main gene combinations among the many genes. In this paper, we used the superior gene combination which are related to the quality of the Korean beef cattle among sets of SNPs by SNPHarvester, and identified the superior genotypes using radial graph which can enhance various qualities of Korean beef among selected SNP combinations.