• 응용통계연구
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• 제21권1호
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• pp.53-63
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• 2008

일반적으로 인간의 질병과 가축의 경제적인 특성은 하나의 유전자가 아닌 여러 유전자의 상호작용으로 일어난다고 믿고 있다. 따라서 본 연구에서는 세대를 거듭할수록 대립유전자의 유전이 안정적으로 발생되어지고 개체의 기능적인 유전적 가치를 직접적으로 추정할 수 있는 single nucleotide polymorphism(SNP)을 한우의 경제적 특성인도체중(carcass cold weight)에 대하여 모수적인 방법인 ANOVA와 비모수적인 방법인 multifactor dimensionality reduction(MDR)을 이용하여 하나의 유전자의 효과와 두 개의 유전자의 상호작용 효과를 비교하였다. ANOVA에서는 하나의 유전자 SNP1이 도체중에 유의한 효과가 있었고 상호작용 효과에서는 도체중에 유의한 효과는 없었다. MDR에서는 하나의 유전자의 효과인 SNP1과 두 개의 유전자의 상호작용인 SNP1*SNP2의 효과가 컸으며 SNP1과 SNP1*SNP2를 비교했을 시에는 SNP1*SNP2의 효과가 더 크게 나타났다. 이는 개별 SNP유전자 보다 복합 SNP유전자의 상호작용이 경제적인 특성인 도체증에 더 영향을 준다는 것을 알 수 있었다.

• ETRI Journal
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• 제38권1호
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• pp.206-215
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• 2016

The detection of gene-gene interactions during genetic studies of common human diseases is important, and the technique of multifactor dimensionality reduction (MDR) has been widely applied to this end. However, this technique is not free from the "curse of dimensionality" -that is, it works well for two- or three-way interactions but requires a long execution time and extensive computing resources to detect, for example, a 10-way interaction. Here, we propose a boosting method to reduce MDR execution time. With the use of pre-evaluation measurements, gene sets with low levels of interaction can be removed prior to the application of MDR. Thus, the problem space is decreased and considerable time can be saved in the execution of MDR.

• Genomics & Informatics
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• 제14권4호
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• pp.166-172
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• 2016

Although a large number of genetic variants have been identified to be associated with common diseases through genome-wide association studies, there still exits limitations in explaining the missing heritability. One approach to solving this missing heritability problem is to investigate gene-gene interactions, rather than a single-locus approach. For gene-gene interaction analysis, the multifactor dimensionality reduction (MDR) method has been widely applied, since the constructive induction algorithm of MDR efficiently reduces high-order dimensions into one dimension by classifying multi-level genotypes into high- and low-risk groups. The MDR method has been extended to various phenotypes and has been improved to provide a significance test for gene-gene interactions. In this paper, we propose a simple method, called accelerated failure time (AFT) UM-MDR, in which the idea of a unified model-based MDR is extended to the survival phenotype by incorporating AFT-MDR into the classification step. The proposed AFT UM-MDR method is compared with AFT-MDR through simulation studies, and a short discussion is given.

• Genomics & Informatics
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• 제16권4호
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• pp.37.1-37.3
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• 2018

Gene-gene interaction is a key factor for explaining missing heritability. Many methods have been proposed to identify gene-gene interactions. Multifactor dimensionality reduction (MDR) is a well-known method for the detection of gene-gene interactions by reduction from genotypes of single-nucleotide polymorphism combinations to a binary variable with a value of high risk or low risk. This method has been widely expanded to own a specific objective. Among those expansions, fuzzy-MDR uses the fuzzy set theory for the membership of high risk or low risk and increases the detection rates of gene-gene interactions. Fuzzy-MDR is expanded by a maximum likelihood estimator as a new membership function in empirical fuzzy MDR (EFMDR). However, EFMDR is relatively slow, because it is implemented by R script language. Therefore, in this study, we implemented EFMDR using RCPP ($c^{{+}{+}}$ package) for faster executions. Our implementation for faster EFMDR, called EMMDR-Fast, is about 800 times faster than EFMDR written by R script only.

• Communications for Statistical Applications and Methods
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• 제17권5호
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• pp.667-678
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• 2010

인간의 유전자 상호작용을 분석하기 위해 제시된 다중인자 차원축소방법은 연속형자료에는 적용할 수 없다. 그래서 이를 보완한 CART 알고리즘을 활용한 확장된 다중인자 차원축소방법이 제안되었다. 하지만 CART 알고리즘을 활용한 확장된 다중인자 차원축소방법의 검정력이 밝혀지지 않았다. 따라서 본 연구에서는 모의실험을 통하여 CART 알고리즘을 활용한 확장된 다중인자 차원축소방법의 우수한 검정력을 평가하고, 확인된 검정력을 바탕으로 실제 한우 데이터에 적용하여 한우의 경제형질에 영향을 주는 우수 유전자조합을 규명하였다.

• Communications for Statistical Applications and Methods
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• 제18권4호
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• pp.413-422
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• 2011

유전학에서 유전자 상호작용효과 규명을 위한 방법으로 비모수적인 방법인 Multifactor Dimensionality Reduction(MDR) 방법이 제안되어 현재까지 사용되고 있다. MDR 방법은 이분형 자료에 적합한 방법으로 연속형 자료에는 적용할 수 없는 단점이 있다. 이러한 한계를 극복하기 위해서 Dummy MDR(D-MDR) 방법 그리고 SVM을 활용한 MDR(SVM MDR) 방법 등이 제안 되었다. 본 논문에서는 연속형 자료에 적용 가능한 SVM MDR 방법과 D-MDR 방법을 비교하고, 실제 한우 데이터에 두 방법에 적용한다. 그리고 각 방법의 적용결과를 바탕으로 한우의 종합경제형질에 영향을 주는 유전자 상호작용 조합을 규명한다. 그리고 마지막으로 기존의 SVM MDR 방법과 D-MDR 방법의 장단점 비교를 통해서 추후 새로운 연구방향을 제시한다.

• Journal of the Korean Data and Information Science Society
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• 제22권6호
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• pp.1257-1264
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• 2011

Delirium is a neuropsychiatric disorder accompanying symptoms of hallucination, drowsiness, and tremors. It has high occurrence rates among elders, heart disease patients, and burn patients. It is a medical emergency associated with increased morbidity and mortality rates. That s why early detection and prevention of delirium ar significantly important. And This mental illness like delirium occurred by complex interaction between risk factors. In this paper, we identify risk factors and interactions between these factors for delirium using multi-factor dimensionality reduction (MDR) method.

• Communications for Statistical Applications and Methods
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• 제15권2호
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• pp.265-271
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• 2008

It is commonly believed that diseases of human or economic traits of livestock are caused not by single genes acting alone, but multiple genes interacting with one another. This issue is difficult due to the limitations of parametric-statistic methods of gene effects. So we introduce multifactor-dimensionality reduction(MDR) as a methods for reducing the dimensionality of multilocus information. The MDR method is nonparametric (i. e., no hypothesis about the value of a statistical parameter is made), model free (i. e., it assumes no particular inheritance model) and is directly applicable to case-control studies. Application of the MDR method revealed the best model with an interaction effect between the SNPs, SNP1 and SNP3, while only one main effect of SNP1 was statistically significant for LMA (p < 0.01) under a general linear mixed model.

• 응용통계연구
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• 제22권2호
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• pp.435-442
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• 2009

통계모형의 상호작용 효과를 분석하기 위해 비모수적인 방법인 다중인자 차원 축소(MDR) 방법을 사용해왔다. MDR 방법은 사례-대조 데이터에만 적용 할 수 있다. 본 논문에서는 연속형 데이터에도 적용 할 수 있는 더미(dummy) 변수를 활용한 MDR방법을 소개한다. 아울러 이를 통해 한우의 주요 경제형질인 등심단면적 (longissimus muscle dorsi area: LMA), 도체중(carcass cold weight: CWT), 일당증체량(average daily gain: ADC)에 영향을 주는 우수 유전자 단일염기다형성(SNP)을 규명한다.

• Asian-Australasian Journal of Animal Sciences
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• 제21권6호
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• pp.784-788
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• 2008

Studies to detect genes responsible for economic traits in farm animals have been performed using parametric linear models. A non-parametric, model-free approach using the 'expanded multifactor-dimensionality reduction (MDR) method' considering high dimensionalities of interaction effects between multiple single nucleotide polymorphisms (SNPs), was applied to identify interaction effects of SNPs responsible for carcass traits in a Hanwoo beef cattle population. Data were obtained from the Hanwoo Improvement Center, National Agricultural Cooperation Federation, Korea, and comprised 299 steers from 16 paternal half-sib proven sires that were delivered in Namwon or Daegwanryong livestock testing stations between spring of 2002 and fall of 2003. For each steer at approximately 722 days of age, the Longssimus dorsi muscle area (LMA) was measured after slaughter. Three functional SNPs (19_1, 18_4, 28_2) near the microsatellite marker ILSTS035 on BTA6, around which the QTL for meat quality were previously detected, were assessed. Application of the expanded MDR method revealed the best model with an interaction effect between the SNPs 19_1 and 28_2, while only one main effect of SNP19_1 was statistically significant for LMA (p<0.01) under a general linear mixed model. Our results suggest that the expanded MDR method better identifies interaction effects between multiple genes that are related to polygenic traits, and that the method is an alternative to the current model choices to find associations of multiple functional SNPs and/or their interaction effects with economic traits in livestock populations.