Common disease - Rare Variant

Common disease - Rare variant (CD-RV) hypothesis is an alternative to Common disease - Common Variant (CD-CV). It says that the disease is caused by multiple strong-effect variants, each of which is found in only a few people. Instead of the common signpost pointing to a common weak-effect variant, it might be pointing to many strong-effect variants. According to CD-RV, a few people have one strong-effect variant (which causes the disease), a few have another, and so on.

This hypothesis does not necessarily claim that common disease cannot have common variant. It rather suggests that rare variants possibly requires careful consideration. Here, whole genome sequencing, instead of SNP polymorphism, can help a lot.

Two important links:

1. http://www.plosbiology.org/article/info%3Adoi%2F10.1371%2Fjournal.pbio.1000294
2. http://www.plosbiology.org/article/info:doi/10.1371/journal.pbio.1000293