Rare variants distributed across large genomic regions make a substantial contribution to the genetic basis of complex diseases, according to a simulated genome-wide association (GWA) study that is backed by real disease-mapping data. GWA studies are based on the assumption that complex diseases are caused by many common variants of small effect, and the signals observed in GWA studies are assumed to correspond to common variants. The hypothesis tested by Goldstein and colleagues is whether, in fact, GWA signals might be due to one or more rare variants that end up having a portion of their effects 'credited' to common variants (a possibility that the authors call 'synthetic associations').
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