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Brief Bioinform. 2002 Jun;3(2):146-53.

Genetic association studies: design, analysis and interpretation.

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Division of Medical and Molecular Genetics, Guy's Hospital, London, UK.


This paper provides a review of the design and analysis of genetic association studies. In case control studies, the different contingency tables and their relationships to the underlying genetic model are defined. Population stratification is discussed, with suggested methods to identify and correct for the effect. The transmission disequilibrium test is provided as an alternative family-based test, which is robust to population stratification. The relative benefits of each analysis are summarised.

[Indexed for MEDLINE]

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