Abstract
The Importance of Synthetic Associations Will Only Be Resolved Empirically
Highlights
Before we had the tools to systematically interrogate variation throughout the human genome, there were two schools of thought in sometimes mortal combat
It is generally agreed that genomewide association studies (GWAS) successfully represent most of the common variation in the human genome
The cumulative impact of common variants implicated to date is modest, leading to the ‘‘missing heritability’’ question [3]. Another key observation has been the pathogenicity of copy number variants (CNVs)
Summary
Before we had the tools to systematically interrogate variation throughout the human genome, there were two schools of thought in sometimes mortal combat. We concluded that rare variants can create genome-wide significant associations credited to more common variants given the sample sizes being considered today, and it is unjustified to assume that a GWAS signal must reflect the effect of a common variant.
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Free) 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
