Gene Prediction and Targeted Sequencing Detect Causal Mutations in Complex Mitochondrial Disease | GenomeWeb

By Monica Heger

Researchers from Harvard University and the University of Melbourne have used candidate gene-prediction algorithms combined with targeted sequencing on the Illumina Genome Analyzer to identify novel causal mutations in the mitochondrial disease human complex I deficiency, a respiratory disorder that cause skeletal muscle myopathy, cardiomyopathy, hypotonia, and other clinical manifestations.

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