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Monday 27 March 2006

Definition: A gene-association study is an experimental design to test whether genetic markers predict the risk of developing a disease.

Hundreds of genome-wide association studies have been performed in recent years in order to try to identify common variants that associate with complex disease. These have met with varying success.

Some of the strongest effects of common variants have been found in late-onset diseases and in drug response. The major histocompatibility complex has also shown very strong association with a variety of disorders. Although there have been some notable success stories in neuropsychiatric genetics, on the whole, common variation has explained little of the high heritability of these traits.

In contrast, early studies of rare copy number variants have led rapidly to a number of genes and loci that strongly associate with neuropsychiatric disorders.

It is likely that the use of whole-genome sequencing to extend the study of rare variation in neuropsychiatry will greatly advance our understanding of neuropsychiatric genetics.

Genome-wide association (GWA) studies are an effective approach for identifying genetic variants associated with disease risk.

Population stratification

GWA studies can be confounded by population stratification - systematic ancestry differences between cases and controls - which has previously been addressed by methods that infer genetic ancestry.

Those methods perform well in data sets in which population structure is the only kind of structure present but are inadequate in data sets that also contain family structure or cryptic relatedness.

Those methods perform well in data sets in which population structure is the only kind of structure present but are inadequate in data sets that also contain family structure or cryptic relatedness.

See also

- whole-genome sequencing


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