Cutting the Gordian Knot of a Mitochondrial Disease.

The advent of whole-exome sequencing ushered in a new era of in the genetic diagnosis of rare diseases, but characterizing large alterations in genome architecture has remained challenging. In this issue of Med, Frazier et al. harnessed the power of genomics and proteomics to identify a recurrent duplication as the molecular basis of a fatal perinatal mitochondrial cardiomyopathy.1.