Whole genome action

Daniel MacArthur writes a thoughtful summary of a new study of the DNA of Stephen Quake: “What can you learn from a whole genome sequence?”

That means that the real benefit of whole-genome sequencing over other assays - the uncovering of truly novel or rare genetic variants - has much less of an impact than it should, because in most cases it's impossible to assign function to such variants. Indeed, it's striking in this study that the really compelling, actionable findings - the increased risk of myocardial infarction and metabolic diseases, and the drug metabolism effects - come largely from common variants, most of which would be captured by chip-based assays such as that used by 23andMe.