Mapping complex disease loci in whole-genome association studies

CS Carlson, MA Eberle, L Kruglyak, DA Nickerson - Nature, 2004 - nature.com
Nature, 2004nature.com
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 …
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.
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