Synthetic associations in the context of genome-wide association scan signals

Gisela Orozco, Jeffrey C. Barrett, Eleftheria Zeggini

Research output: Contribution to journalArticlepeer-review

49 Scopus citations


Genome-wide association studies (GWAS) have successfully identified a large number of genetic variants associated with complex traits, but these only explain a small proportion of the total heritability. It has been recently proposed that rare variants can create 'synthetic association' signals in GWAS, by occurring more often in association with one of the alleles of a common tag single nucleotide completion of large-scale sequencing studies, it is informative to place it in the broader context of what is known about the genetic architecture of complex disease. In this review, we draw from empirical and theoretical data to summarize evidence showing that synthetic associations do not underlie many reported GWAS associations.

Original languageEnglish
Pages (from-to)R137-R144
JournalHuman Molecular Genetics
Issue numberR2
StatePublished - 15 Oct 2010
Externally publishedYes


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