Several approaches have been developed for integrating analysis of CNVs into GWAS, including innovation in the design of GWA arrays (with associated discoveries in neuropsychiatric disorders59,60) and the use of the linkage disequilibrium relationships between SNPs and common CNPs (with associated discoveries in Crohn’s disease and body weight52,61). These approaches are early in their development and have important limitations, although rapid progress is expected as CNV detection algorithms evolve and large-scale sequencing studies produce comprehensive, high-resolution maps of segregating CNPs that can be measured in large reference panels.
