Summary

These results demonstrate the advantages of fluorescent sequencing for the identification of both heteroplasmic and homoplasmic sequence variants in small quantities of human tissues and bodily fluids. In addition, cost analysis revealed that automated CE is cheaper than microarray resequencing in its currently available format. CE high-throughput analysis of the entire mitochondrial genome from lung cancer patients detected sequence variants in Stage I, Stage III, and Stage IV tumors, suggesting that mitochondrial instability could serve as a biomarker for early detection. Because mitochondrial mutations, unlike nuclear genes, are not restricted by cancer type, the identification of mtDNA sequence variants may serve as a universal fingerprint for other cancers and mitochondrial-linked diseases.

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