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Second generation sequencing allows for mtDNA mixture deconvolution and high resolution detection of heteroplasmy

1 Jun 2011

Abstract excerpt

AIM: To use parallel array pyrosequencing to deconvolute mixtures of mitochondrial DNA (mtDNA) sequence and provide high resolution analysis of mtDNA heteroplasmy. METHODS: The hypervariable segment 1 (HV1) of the mtDNA control region was analyzed from 30 individuals using the 454 GS Junior instrument. Mock mixtures were used to evaluate the system's ability to deconvolute mixtures and to reliably detect...

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PMID: 21674826
DOI: 10.3325/cmj.2011.52.299

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