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Mapping complex disease loci in whole-genome association studies

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NATURE
卷 429, 期 6990, 页码 446-452

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NATURE PUBLISHING GROUP
DOI: 10.1038/nature02623

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Identification of the genetic polymorphisms that contribute to susceptibility for common diseases such as type 2 diabetes and schizophrenia will aid in the development of diagnostics and therapeutics. Previous studies have focused on the technique of genetic linkage, but new technologies and experimental resources make whole-genome association studies more feasible. Association studies of this type have good prospects for dissecting the genetics of common disease, but they currently face a number of challenges, including problems with multiple testing and study design, definition of intermediate phenotypes and interaction between polymorphisms.

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