Use of Whole-Genome Sequencing for Mitochondrial Disease Diagnosis.

ABSTRACT:

Objectives

Mitochondrial diseases are the commonest group of heritable metabolic disorders. Phenotypic diversity can make molecular diagnosis challenging and causative genetic mutations may reside in either mitochondrial or nuclear DNA. A single comprehensive genetic diagnostic test would be highly useful and transform the field. We applied whole genome sequencing to evaluate the variant detection rate and diagnostic capacity of this technology with a view to simplifying and improving the mitochondrial disease diagnostic pathway.

Methods

Adult patients presenting to a specialist mitochondrial disease clinic in Sydney, Australia were recruited to the study if they satisfied clinical mitochondrial disease (Nijmegen) criteria. Whole genome sequencing was performed on blood DNA,

SUBMITTER: Davis RL 

PROVIDER: S-EPMC9484606 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature