Genetics of mitochondrial diseases: Identifying mutations to help diagnosis.

Abstract excerpt

Mitochondrial diseases are amongst the most genetically and phenotypically diverse groups of inherited diseases. The vast phenotypic overlap with other disease entities together with the absence of reliable biomarkers act as driving forces for the integration of unbiased methodologies early in the diagnostic algorithm, such as whole exome sequencing (WES) and whole genome sequencing (WGS). Such approaches are...

Topics

• Early Diagnosis
• Genetic Association Studies
• High-Throughput Nucleotide Sequencing
• Humans
• Mitochondrial Diseases
• Mutation
• Exome Sequencing
• Whole Genome Sequencing