Mitochondrial diseases are a group of genetic disorders characterized by mutations in nuclear or mitochondrial DNA, causing a range of manifestations that can present at various times. This ...
But while constraint models have been highly effective for identifying disease-causing variants in the nuclear genome, they have not been useful for mutations in the mitochondrial genome ...
Mitochondrial DNA depletion syndrome (MTDPS) is a rare genetic disorder characterized by a marked decrease in mitochondrial DNA (mtDNA). This condition can cause symptoms including muscle weakness, ...