CDCV

Dickson SP, Wang K, Krantz I, Hakonarson H & Goldstein DB 2010 Rare variants create synthetic genome-wide associations. PLoS Biol 8:e1000294.

• efforts to fine map the causal variants responsible for genome-wide association studies (GWAS) signals have been largely predicated on the common disease common variant theory
• this has led to extensive resequencing efforts that have been largely unsuccessful
• part of the reason for this may be that the disease class causing an observed association may consist of multiple low-frequency variants across large regions of the genome
• a phenomenon we call synthetic association