Mapping complex disease loci in whole-genome association studies

Christopher S. Carlson (), Michael A. Eberle, Leonid Kruglyak and Deborah A. Nickerson
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Christopher S. Carlson: University of Washington
Michael A. Eberle: Fred Hutchinson Cancer Research Center
Leonid Kruglyak: Howard Hughes Medical Institute, Fred Hutchinson Cancer Research Center
Deborah A. Nickerson: University of Washington

Nature, 2004, vol. 429, issue 6990, 446-452

Abstract: Abstract 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.

Date: 2004
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DOI: 10.1038/nature02623

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