the deletion polymorphism being the causal allele [5]. Similarly, a 45 kb deletion polymorphism in NEGR1 has been shown to be the likely causal variant for the reproducible association with body mass index in humans, demonstrating a neuronal influence on body weight regulation [6]. These discoveries and similar developments suggest that the interpretation of known disease associations continues to be fraught with challenges, as CNVs may be in linkage disequilibrium (LD) with associated variants, and that the identification of causal variants requires an approach that considers both SNPs and CNVs at associated loci.
