• The KIPS Transactions:PartD
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• v.18D no.2
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• pp.89-100
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• 2011

The CNV (Copy Number Variation) which is one of the genetic structural variations in human genome is closely related with the function of gene. In particular, the genome-wide association studies for genetic diseased persons have been researched. However, there have been few studies which infer the genetic function of CNV with normal human. In this paper, we propose the analysis method to reveal the functional relationship between common CNV and genes without considering their genomic loci. To achieve that, we propose the data integration method for heterogeneity biological data and novel measurement which can calculate the correlation between common CNV and genes. To verify the significance of proposed method, we has experimented several verification tests with GO database. The result showed that the novel measurement had enough significance compared with random test and the proposed method could systematically produce the candidates of genetic function which have strong correlation with common CNV.

• The Korean Journal of Applied Statistics
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• v.21 no.1
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• pp.1-17
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• 2008

The ordinary least squares regression method of Haseman and Elston(1972) is most widely used in genetic linkage studies for continuous traits of sib pairs. Kruglyak and Lander(1995) suggested a statistic which appears to be a nonparametric counterpart to the Haseman and Elston(1972)'s regression method, but in fact these two methods are quite different. In this paper the relationships between these two methods are described and will be compared by simulation studies. One of the characteristics of the sib-pair linkage study is that the explanatory variable has only three different values and thus dependent variable is heavily replicated in each value of the explanatory variable. We propose a weighted least squares regression method which is more appropriate to this situation and the efficiency of the weighted regression in genetic linkage study was explored with normal and non-normal simulated continuous traits data. Simulation studies demonstrated that the weighted regression is more powerful than other tests.

• 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 the Korean Data and Information Science Society
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• v.25 no.5
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• pp.1057-1067
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• 2014

Many genetic variants have been identified to be associated with complex diseases such as hypertension, diabetes and cancers throughout genome-wide association studies (GWAS). However, there still exist a serious missing heritability problem since the proportion explained by genetic variants from GWAS is very weak less than 10~15%. Gene-gene interaction study may be helpful to explain the missing heritability because most of complex disease mechanisms are involved with more than one single SNP, which include multiple SNPs or gene-gene interactions. This paper focuses on gene-gene interactions with the survival phenotype by extending the multifactor dimensionality reduction (MDR) method to the accelerated failure time (AFT) model. The standardized residual from AFT model is used as a residual score for classifying multiple geno-types into high and low risk groups and algorithm of MDR is implemented. We call this method AFT-MDR and compares the power of AFT-MDR with those of Surv-MDR and Cox-MDR in simulation studies. Also a real data for leukemia Korean patients is analyzed. It was found that the power of AFT-MDR is greater than that of Surv-MDR and is comparable with that of Cox-MDR, but is very sensitive to the censoring fraction.

• The Korean Journal of Applied Statistics
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• v.23 no.1
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• pp.95-111
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• 2010

Recently, there have been lots of study for disease-genetic association using SNPs and haplotypes. Statistical methods and tools for various types of data are developed by many researchers. However, there is no unified software which can handle most of major analysis, and the methods and manners to deal with data are quite different through softwares. And thus it is not easy to researcher to choose proper software. In this study, we devide analyzing procedures into three steps: preliminary analysis, population-based analysis and family-based analysis. We review the statistical methods for each step and compare the features of the FBAT, SAS/Genetics, SAGE and R as major integrating softwares for genetic study.

• The Korean Journal of Applied Statistics
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• v.23 no.5
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• pp.845-855
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• 2010

Extensively used case-control designs in medical studies can also be powerful and efficient for family association studies as long as an analysis method is developed for the evaluation of association between candidate genes and disease. Traditional Cochran-Armitage trend test is devised for independent subjects data, and to apply this trend test to the biologically related siblings one has to take into account the covariance among related family members in order to maintain the correct type I error rate. We propose a more powerful trend test by introducing weights that reflect the number of affected siblings in families for the evaluation of the association of genetic markers related to the disease. An application of our method to a sample family data, in addition to a small-scale simulation, is presented to compare the weighted and unweighted trend tests.

• Journal of Convergence for Information Technology
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• v.8 no.6
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• pp.201-207
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• 2018

A genome contains all genetic information of an organism. Within a specific species, unique traits appear for each individual, which can be identified by analyzing nucleotide sequences. Many Genome-Wide Associations Studies have been carried out to find genetic associations and cause of diseases from slightly different base among the individuals. It is important to identify occurrence of slight variations for polymorphisms of individuals. In this paper, we introduce an analysis and visualization tool for specific variation pattern identification of polymorphisms in nucleotide sequences and show the validity of the tool by applying it to analyzing nucleotide sequences of subcultured pOka strain of varicella-zoster virus. The tool is expected to help efficiently explore allele frequency variations and genetic factors within a species.

• Sleep Medicine and Psychophysiology
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• v.14 no.1
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• pp.26-32
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• 2007

Objectives: Angiotensin-converting enzyme (ACE) gene polymorphism has been reported to be associated with depression and therapeutic outcome in depression. The purpose of this study was to determine whether ACE gene polymorphism is associated with seasonal variation in mood and behavior in a young Korean college student sample. Methods: 297 young Korean medical students were recruited in this study. All subjects were free of major medical and psychiatric problems. They were genotyped for the ACE gene polymorphism and evaluated the seasonal variation in mood and behavior by the Seasonality Pattern Assessment Questionnaire (SPAQ). Results: Global Seasonality Score (GSS) of SPAQ between three genotypes were not different. However, comparison of the group that showed seasonality of mood and behavior during winter with the group that did not showed seasonality indicated significant difference in genotype distribution ($x^2=6.79$, p=0.034). The D allele non-carrier (ll genotype) frequency was significantly higher in winter seasonality group than non-seasonality group ($x^2=6.59$, p=0.010；odds ratio [OR]=2.27, 95% confidence interval [CI] 1.20-4.28). Conclusion: These results suggest that the ACE gene polymorphism is related to winter-type seasonality in a Korean population.

• Proceedings of the Korea Information Processing Society Conference
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• 2002.04b
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• pp.1183-1186
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• 2002

DNA 의 염기서열 탐색을 위한 유전체학의 다음 세대인 구조유전체학은 유전체 사업으로 인한 인간 게놈지도의 완성과 축적된 생물정보를 이용한 생물정보학의 발달과 함께 급속한 성장을 계속하고 있다. 포스트 게놈 시대를 맞이하여 생명현상에 대한 궁극적인 이해를 위한 노력으로 단백질의 구조와 기능에 대한 연구가 주목을 받게 되었다. 다양한 구조 규명을 위한 도구들과 단백질 정보를 관리하기 위한 데이터베이스 구축에 따른 관련 기술의 발전은, 앞으로 다가올 생물정보의 방대함을 감안할 때, 가치 있는 지식정보를 얻기 위한 데이터 마이닝 기법들을 통해서만 가능하다. 본 논문은 데이터 마이닝의 근간 기술인 연관규칙 마이닝을 응용한 효율적인 서열 연관 규칙 알고리즘을 제안하며, 단백질 구조의 예측을 위한 단백질 서열 및 DNA 서열간의 패턴 비교 및 연관성을 목적으로 한다. 또한, 공간적 시간적 복잡성을 CMS-tree 라는 자료구조를 통해 알고리즘의 확장성 및 병렬화의 기본 알고리즘으로 사용하도록 개발하였다.

• The Korean Journal of Applied Statistics
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• v.23 no.6
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• pp.1103-1113
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• 2010

An extensively used approach for family based association test(FBAT) is compared with the sib transmission/disequilibrium test(S-TDT), and in particular the adjusted S-TDT, in which the covariance among related siblings is taken into consideration, can provide a more sensitive test statistic for association. A simulation study comparing the three test statistics demonstrates that the type I error rates of all three tests are larger than the prespecified significance level and the power of the FBAT is lower than those of the other two tests. More detailed studies are required in order to assess the influence of the assumed conditions in FBAT on the efficiency of the test.