The existence of sequence variants within the mitochondrial DNA of an individual cell known as heteroplasmy can be detected using numerous methods. The development of sequencing methods beyond the traditional Sanger method to massively parallel sequencing has made it possible to produce rapidly vast amounts of sequence information. The levels of heteroplasmy reported vary and may depend on a multitude of factors, including technical artifacts. Most of the variability is attributed to the established threshold for mtDNA mutation detection. Technical artifacts can arise from the sequencing chemistry used as well as the data handling approaches used. Only after a standard method for generating and reporting heteroplasmy data exists will it be possible to move forward towards determining the significance of mitochondrial DNA variations. The amount of heteroplasmy required to cause disease must be examined in greater detail before an exact conclusion is reached. The present report will note that the focus of many researchers has been to argue about techniques instead of understanding the extent and implications of mitochondrial heteroplasmy.
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