Detecting heteroplasmy from high-throughput sequencing of complete human mitochondrial DNA genomes.

ABSTRACT: Heteroplasmy, the existence of multiple mtDNA types within an individual, has been previously detected by using mostly indirect methods and focusing largely on just the hypervariable segments of the control region. Next-generation sequencing technologies should enable studies of heteroplasmy across the entire mtDNA genome at much higher resolution, because many independent reads are generated for each position. However, the higher error rate associated with these technologies must be taken into consideration to avoid false detection of heteroplasmy. We used simulations and phiX174 sequence data to design criteria for accurate detection of heteroplasmy with the Illumina Genome Analyzer platform, and we used artificial mixtures and replicate data to test and refine the criteria. We then appl

SUBMITTER: Li M 

PROVIDER: S-EPMC2917713 | biostudies-literature | 2010 Aug

REPOSITORIES: biostudies-literature