Connections between Mendelian diseases and natural variation

I’ve written before about a pattern emerging from genome-wide association studies–genes in which mutations cause rare extreme forms of a phenotype often harbor common variation that influence natural, non-disease variation in that same phenotype. A pair of new studies on variation in cardiac repolarization (summarized here) provide an additional example of this pattern. It’s worth … Continue reading Connections between Mendelian diseases and natural variation