The Korean Journal of Applied Statistics (응용통계연구)

The Korean Statistical Society (한국통계학회)
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A Review of Genetic Association Analyses in Population and Family Based Data: Methods and Software

집단 및 가족기반연구에서의 유전적 연관성 분석 고찰: 방법론과 소프트웨어

  • Lee, Hyo-Jung (Department of Statistics, Korea University) ;
  • Kim, Min-Ji (Biostatistics Team, Samsung Biomedical Research Institute) ;
  • Park, Mi-Ra (Department of Preventive Medicine, Eulji University)
  • 이효정 (고려대학교 통계학과) ;
  • 김민지 (삼성생명과학연구소 통계지원팀) ;
  • 박미라 (을지대학교 예방의학교실)
  • Received : 20090900
  • Accepted : 20091200
  • Published : 2010.02.28
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Abstract

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.

최근 단일염기다형성 및 일배체형을 이용한 질병-유전자간 연관성연구가 많이 진행되고 있으며, 이를 위한 다양한 분석방법과 분석도구가 개발되고 있다. 그러나 통합 소프트웨어는 충분히 확립되지 못하였으며, 각 소프트웨어가 제공하는 분석방법 및 양식에 차이가 많아 연구자가 적절한 것을 선택하기가 쉽지 않다. 본고에서는 유전적 연관성연구를 사전분석단계, 집단기반연구방법, 가족기반연구방법으로 나누어 각각의 목적에 따른 분석방법을 고찰하고, 이의 분석을 위한 주요 소프트웨어로서 FBAT, SAS/Genetics, SAGE, R의 지원내용과 방법을 비교하였다.

Keywords

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