Sunday, March 21, 2010

Do rare variants create "synthetic" associations in GWAS?

Rare Variants Create Synthetic Genome-Wide Associations

The hypothesis is that rare variants could have “synthetic associations” by happening, stochastically, more often in association with one allele at the common site compared to the other allele at that site.  The authors use smulations are used to show the conditions underneath which synthetic associations might occur.
"Now it is demonstrated in a simulation study that even those signals that have been detected for common variants could, in principle, come from the effect of rare ones. This has important implications for our understanding of the genetic architecture of human disease and in the design of future studies to detect causal genetic variants."

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