Article

Chasing a moving target: Detection of mitochondrial heteroplasmy for clinical diagnostics

2017-11-19

Abstract excerpt

Clinical interpretation of human mitochondrial DNA (mtDNA) variants has been challenging for technical and biological reasons but the involvement of dysfunctional mitochondria in many diseases makes it imperative to have a validated assay for detecting pathogenic variants. We have tested several methods to identify those best suited to detect and confirm mtDNA variants. The choice of methods is dependent on the am...

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Literature Corpus work: 2d893749-5513-5c2c-9c29-9775578883dc
DOI: 10.1101/222109

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