Genome Sequencing

Researchers of the Nijmegen Center for Mitochondrial Disorders (NCMD) have identified numerous mutations in the nuclear DNA responsible for defects in the mitochondrial energy generating capacity. However, for only a small part of the mitochondrial disorders the genetic defect has been established and it is clear that mitochondrial disease shows extreme genetic heterogeneity. Next generation sequencing technology now allows us to rapidly and affordably investigate the entire coding part of the genome, the exome, or even the entire genome. This opens up possibilities to detect all possible genetic variation that can be linked to mitochondrial disease, identify novel causes of disease, investigate the role of modifier variants and offer novel diagnostic opportunities.

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